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"text": "\n110051\nMeta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.\n\nLanktree, MB\n\nGuo, Y\n\nMurtaza, M\n\nGlessner, JT\n\nBailey, SD\n\nOnland-Moret, NC\n\nLettre, G\n\nOngen, H\n\nRajagopalan, R\n\nJohnson, T\n\nShen, H\n\nNelson, CP\n\nKlopp, N\n\nBaumert, J\n\nPadmanabhan, S\n\nPankratz, N\n\nPankow, JS\n\nShah, S\n\nTaylor, K\n\nBarnard, J\n\nPeters, BJ\n\nMaloney, CM\n\nLobmeyer, MT\n\nStanton, A\n\nZafarmand, MH\n\nRomaine, SP\n\nMehta, A\n\nvan Iperen, EP\n\nGong, Y\n\nPrice, TS\n\nSmith, EN\n\nKim, CE\n\nLi, YR\n\nAsselbergs, FW\n\nAtwood, LD\n\nBailey, KM\n\nBhatt, D\n\nBauer, F\n\nBehr, ER\n\nBhangale, T\n\nBoer, JM\n\nBoehm, BO\n\nBradfield, JP\n\nBrown, M\n\nBraund, PS\n\nBurton, PR\n\nCarty, C\n\nChandrupatla, HR\n\nChen, W\n\nConnell, J\n\nDalgeorgou, C\n\nBoer, Ad\n\nDrenos, F\n\nElbers, CC\n\nFang, JC\n\nFox, CS\n\nFrackelton, EC\n\nFuchs, B\n\nFurlong, CE\n\nGibson, Q\n\nGieger, C\n\nGoel, A\n\nGrobbee, DE\n\nHastie, C\n\nHoward, PJ\n\nHuang, GH\n\nJohnson, WC\n\nLi, Q\n\nKleber, ME\n\nKlein, BE\n\nKlein, R\n\nKooperberg, C\n\nKy, B\n\nLacroix, A\n\nLanken, P\n\nLathrop, M\n\nLi, M\n\nMarshall, V\n\nMelander, O\n\nMentch, FD\n\nMeyer, NJ\n\nMonda, KL\n\nMontpetit, A\n\nMurugesan, G\n\nNakayama, K\n\nNondahl, D\n\nOnipinla, A\n\nRafelt, S\n\nNewhouse, SJ\n\nOtieno, FG\n\nPatel, SR\n\nPutt, ME\n\nRodriguez, S\n\nSafa, RN\n\nSawyer, DB\n\nSchreiner, PJ\n\nSimpson, C\n\nSivapalaratnam, S\n\nSrinivasan, SR\n\nSuver, C\n\nSwergold, G\n\nSweitzer, NK\n\nThomas, KA\n\nThorand, B\n\nTimpson, NJ\n\nTischfield, S\n\nTobin, M\n\nTomaszewski, M\n\nTomaszweski, M\n\nVerschuren, WM\n\nWallace, C\n\nWinkelmann, B\n\nZhang, H\n\nZheng, D\n\nZhang, L\n\nZmuda, JM\n\nClarke, R\n\nBalmforth, AJ\n\nDanesh, J\n\nDay, IN\n\nSchork, NJ\n\nde Bakker, PI\n\nDelles, C\n\nDuggan, D\n\nHingorani, AD\n\nHirschhorn, JN\n\nHofker, MH\n\nHumphries, SE\n\nKivimaki, M\n\nLawlor, DA\n\nKottke-Marchant, K\n\nMega, JL\n\nMitchell, BD\n\nMorrow, DA\n\nPalmen, J\n\nRedline, S\n\nShields, DC\n\nShuldiner, AR\n\nSleiman, PM\n\nSmith, GD\n\nFarrall, M\n\nJamshidi, Y\n\nChristiani, DC\n\nCasas, JP\n\nHall, AS\n\nDoevendans, PA\n\nChristie, JD\n\nBerenson, GS\n\nMurray, SS\n\nIllig, T\n\nDorn, GW\n\nCappola, TP\n\nBoerwinkle, E\n\nSever, P\n\nRader, DJ\n\nReilly, MP\n\nCaulfield, M\n\nTalmud, PJ\n\nTopol, E\n\nEngert, JC\n\nWang, K\n\nDominiczak, A\n\nHamsten, A\n\nCurtis, SP\n\nSilverstein, RL\n\nLange, LA\n\nSabatine, MS\n\nTrip, M\n\nSaleheen, D\n\nPeden, JF\n\nCruickshanks, KJ\n\nMärz, W\n\nO'Connell, JR\n\nKlungel, OH\n\nWijmenga, C\n\nMaitland-van der Zee, AH\n\nSchadt, EE\n\nJohnson, JA\n\nJarvik, GP\n\nPapanicolaou, GJ\n\nHugh Watkins on behalf of PROCARDIS\n\nGrant, SF\n\nMunroe, PB\n\nNorth, KE\n\nSamani, NJ\n\nKoenig, W\n\nGaunt, TR\n\nAnand, SS\n\nvan der Schouw, YT\n\nMeena Kumari on behalf of the Whitehall II Study and the WHII 50K Group\n\nSoranzo, N\n\nFitzgerald, GA\n\nReiner, A\n\nHegele, RA\n\nHakonarson, H\n\nKeating, BJ\n\nBeiträge in Fachzeitschriften\nISI:000286501500001\n21194676.0\n10.1016/j.ajhg.2010.11.007\nPMC3014369\nHeight is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49, 20 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114, 23 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.\n\nMärz, Winfried\n\n\n"
},
{
"text": "\n2166\nQuantitative determination of left ventricular myocardial perfusion with electron beam computerized tomography\n\nRienmüller, R\n\nBaumgartner, C\n\nKern, R\n\nHarb, S\n\nAigner, R\n\nFueger, G\n\nWeihs, W\n\nBeiträge in Fachzeitschriften\nISI:A1997WV04700001\n9206706.0\n10.1007/BF03044305\nNone\nMyocardial perfusion is one of the most important functional parameters of the heart. Presently various indirect methods are used to determine coronary blood flow or myocardial perfusion as inertgas-, thermodilution-, Doppler catheter- and radiopharmacological techniques. Electron-beam-computed-tomographical technology is able to perform CT data acquisition with a very short exposure time of 50 ms. Using this method it is not only possible to determine left ventricular volumes but also to measure myocardial perfusion in ml/100 g/min. The measurement of the left myocardial perfusion is performed using the short axis view. This position is obtained by moving the table 25 degrees to the patient's right and 15 degrees caudally. To determine the position of the left ventricle, a localization scan is obtained in multi-slice-mode using all for target-rings, thus obtaining 8 tomographic levels over 68 mm (each tomographic level having a slice thickness of 7 mm, with an interslice gap of 4 mm between each two adjacent tomographic levels). In this short axis position, using the multi slice flow mode with 3 target-rings and after administration of 50 ml of contrast medium intravenously with a flow of 3 ml/s, 6 tomographic levels are imaged. Each tomographic level is obtained 13 times at 80% of the R-R-interval at each 2 or 3 heart beat (ECG-gated). The left ventricular myocardial contrast enhancement is measured by drawing manually the outline of the left ventricular myocardium using time-density-software of the Imatron workstation. For calculation of the myocardial perfusion the so-called "slope method" is used and the results are expressed as the maximum slope of enhancement of the myocardium divided by the difference of the precontrast and peak CT-value in the left ventricle. The global myocardial perfusion is calculated as a mean of all evaluated tomographic levels. In this study left ventricular volumes as enddiastolic volume endsystolic volume and stroke volume were measured and ejection fraction and cardiac output calculated. The measurements were performed in the log axis view. This view is obtained by moving the table 15 degrees to the patients left in a horizontal position. In this long axis position 6 tomographic levels are imaged using the multi-slice-cine-mode with 3 target-rings after administration of 50 ml of contrast medium intravenously with a flow of 3 ml/s. Each tomographic level is obtained 13 times starting at 0% of the R-R-interval (ECG-triggering). The exposure time is 50 ms with an interscan time delay of 8 ms. In 9 studied patients of whom one had 3 significant coronary artery stenotic lesions (> 50%), 2 patients had each 2 non significant stenotic lesions (< 50%) and 6 revealed nearly normal coronary angiograms. The mean global myocardial perfusion was 70 ml/100 g/min (min.32 and max. 116 ml/100 g/min). This mean value of 70 ml/100 g/min is reflecting 5% of the cardiac output supposing that the mean heart weight of these patients was 300 g. In this study the mean of the left ventricular muscle mass determined by the use of EBCT was 130 g. A comparative evaluation of coronary angiographic findings in these patients with the measured myocardial perfusion values revealed, that is not sufficient to look only at the absolute values of the measured myocardial perfusion. Furthermore it seems to be necessary to interpret these perfusion values with respect to the calculated cardiac output. Additional studies of well defined patients groups are necessary to determine normal values of myocardial perfusion at rest in patients with and without coronary artery disease. This seems to be important as comparative analysis of myocardial scintigraphic and EBCT-studies is difficult because of methodical inherent differences. The results of this study suggest that despite the presence of some beam hardening artifacts it is possible to measure myocardial perfusion using EBCT in patients with suspected coronary artery disease in the\n\nAigner, Reingard\n\nRienmüller, Rainer\n\n\n"
},
{
"text": "\n177517\nTarget genes, variants, tissues and transcriptional pathways influencing human serum urate levels.\n\nTin, A\n\nMarten, J\n\nHalperin Kuhns, VL\n\nLi, Y\n\nWuttke, M\n\nKirsten, H\n\nSieber, KB\n\nQiu, C\n\nGorski, M\n\nYu, Z\n\nGiri, A\n\nSveinbjornsson, G\n\nLi, M\n\nChu, AY\n\nHoppmann, A\n\nO'Connor, LJ\n\nPrins, B\n\nNutile, T\n\nNoce, D\n\nAkiyama, M\n\nCocca, M\n\nGhasemi, S\n\nvan der Most, PJ\n\nHorn, K\n\nXu, Y\n\nFuchsberger, C\n\nSedaghat, S\n\nAfaq, S\n\nAmin, N\n\nÄrnlöv, J\n\nBakker, SJL\n\nBansal, N\n\nBaptista, D\n\nBergmann, S\n\nBiggs, ML\n\nBiino, G\n\nBoerwinkle, E\n\nBottinger, EP\n\nBoutin, TS\n\nBrumat, M\n\nBurkhardt, R\n\nCampana, E\n\nCampbell, A\n\nCampbell, H\n\nCarroll, RJ\n\nCatamo, E\n\nChambers, JC\n\nCiullo, M\n\nConcas, MP\n\nCoresh, J\n\nCorre, T\n\nCusi, D\n\nFelicita, SC\n\nde Borst, MH\n\nDe Grandi, A\n\nde Mutsert, R\n\nde Vries, APJ\n\nDelgado, G\n\nDemirkan, A\n\nDevuyst, O\n\nDittrich, K\n\nEckardt, KU\n\nEhret, G\n\nEndlich, K\n\nEvans, MK\n\nGansevoort, RT\n\nGasparini, P\n\nGiedraitis, V\n\nGieger, C\n\nGirotto, G\n\nGögele, M\n\nGordon, SD\n\nGudbjartsson, DF\n\nGudnason, V\n\nGerman Chronic Kidney Disease Study\n\nHaller, T\n\nHamet, P\n\nHarris, TB\n\nHayward, C\n\nHicks, AA\n\nHofer, E\n\nHolm, H\n\nHuang, W\n\nHutri-Kähönen, N\n\nHwang, SJ\n\nIkram, MA\n\nLewis, RM\n\nIngelsson, E\n\nJakobsdottir, J\n\nJonsdottir, I\n\nJonsson, H\n\nJoshi, PK\n\nJosyula, NS\n\nJung, B\n\nKähönen, M\n\nKamatani, Y\n\nKanai, M\n\nKerr, SM\n\nKiess, W\n\nKleber, ME\n\nKoenig, W\n\nKooner, JS\n\nKörner, A\n\nKovacs, P\n\nKrämer, BK\n\nKronenberg, F\n\nKubo, M\n\nKühnel, B\n\nLa Bianca, M\n\nLange, LA\n\nLehne, B\n\nLehtimäki, T\n\nLifelines Cohort Study\n\nLiu, J\n\nLoeffler, M\n\nLoos, RJF\n\nLyytikäinen, LP\n\nMagi, R\n\nMahajan, A\n\nMartin, NG\n\nMärz, W\n\nMascalzoni, D\n\nMatsuda, K\n\nMeisinger, C\n\nMeitinger, T\n\nMetspalu, A\n\nMilaneschi, Y\n\nV. A. Million Veteran Program\n\nO'Donnell, CJ\n\nWilson, OD\n\nGaziano, JM\n\nMishra, PP\n\nMohlke, KL\n\nMononen, N\n\nMontgomery, GW\n\nMook-Kanamori, DO\n\nMüller-Nurasyid, M\n\nNadkarni, GN\n\nNalls, MA\n\nNauck, M\n\nNikus, K\n\nNing, B\n\nNolte, IM\n\nNoordam, R\n\nO'Connell, JR\n\nOlafsson, I\n\nPadmanabhan, S\n\nPenninx, BWJH\n\nPerls, T\n\nPeters, A\n\nPirastu, M\n\nPirastu, N\n\nPistis, G\n\nPolasek, O\n\nPonte, B\n\nPorteous, DJ\n\nPoulain, T\n\nPreuss, MH\n\nRabelink, TJ\n\nRaffield, LM\n\nRaitakari, OT\n\nRettig, R\n\nRheinberger, M\n\nRice, KM\n\nRizzi, F\n\nRobino, A\n\nRudan, I\n\nKrajcoviechova, A\n\nCifkova, R\n\nRueedi, R\n\nRuggiero, D\n\nRyan, KA\n\nSaba, Y\n\nSalvi, E\n\nSchmidt, H\n\nSchmidt, R\n\nShaffer, CM\n\nSmith, AV\n\nSmith, BH\n\nSpracklen, CN\n\nStrauch, K\n\nStumvoll, M\n\nSulem, P\n\nTajuddin, SM\n\nTeren, A\n\nThiery, J\n\nThio, CHL\n\nThorsteinsdottir, U\n\nToniolo, D\n\nTönjes, A\n\nTremblay, J\n\nUitterlinden, AG\n\nVaccargiu, S\n\nvan der Harst, P\n\nvan Duijn, CM\n\nVerweij, N\n\nVölker, U\n\nVollenweider, P\n\nWaeber, G\n\nWaldenberger, M\n\nWhitfield, JB\n\nWild, SH\n\nWilson, JF\n\nYang, Q\n\nZhang, W\n\nZonderman, AB\n\nBochud, M\n\nWilson, JG\n\nPendergrass, SA\n\nHo, K\n\nParsa, A\n\nPramstaller, PP\n\nPsaty, BM\n\nBöger, CA\n\nSnieder, H\n\nButterworth, AS\n\nOkada, Y\n\nEdwards, TL\n\nStefansson, K\n\nSusztak, K\n\nScholz, M\n\nHeid, IM\n\nHung, AM\n\nTeumer, A\n\nPattaro, C\n\nWoodward, OM\n\nVitart, V\n\nKöttgen, A\n\nBeiträge in Fachzeitschriften\nISI:000489016400010\n31578528.0\n10.1038/s41588-019-0504-x\nPMC6858555\nElevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457, 90 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334, 80 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.\n\nHofer, Edith\n\nMärz, Winfried\n\nSABA, Yasaman\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
},
{
"text": "\n113056\nGenome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.\n\nWain, LV\n\nVerwoert, GC\n\nO'Reilly, PF\n\nShi, G\n\nJohnson, T\n\nJohnson, AD\n\nBochud, M\n\nRice, KM\n\nHenneman, P\n\nSmith, AV\n\nEhret, GB\n\nAmin, N\n\nLarson, MG\n\nMooser, V\n\nHadley, D\n\nDörr, M\n\nBis, JC\n\nAspelund, T\n\nEsko, T\n\nJanssens, AC\n\nZhao, JH\n\nHeath, S\n\nLaan, M\n\nFu, J\n\nPistis, G\n\nLuan, J\n\nArora, P\n\nLucas, G\n\nPirastu, N\n\nPichler, I\n\nJackson, AU\n\nWebster, RJ\n\nZhang, F\n\nPeden, JF\n\nSchmidt, H\n\nTanaka, T\n\nCampbell, H\n\nIgl, W\n\nMilaneschi, Y\n\nHottenga, JJ\n\nVitart, V\n\nChasman, DI\n\nTrompet, S\n\nBragg-Gresham, JL\n\nAlizadeh, BZ\n\nChambers, JC\n\nGuo, X\n\nLehtimäki, T\n\nKühnel, B\n\nLopez, LM\n\nPolašek, O\n\nBoban, M\n\nNelson, CP\n\nMorrison, AC\n\nPihur, V\n\nGanesh, SK\n\nHofman, A\n\nKundu, S\n\nMattace-Raso, FU\n\nRivadeneira, F\n\nSijbrands, EJ\n\nUitterlinden, AG\n\nHwang, SJ\n\nVasan, RS\n\nWang, TJ\n\nBergmann, S\n\nVollenweider, P\n\nWaeber, G\n\nLaitinen, J\n\nPouta, A\n\nZitting, P\n\nMcArdle, WL\n\nKroemer, HK\n\nVölker, U\n\nVölzke, H\n\nGlazer, NL\n\nTaylor, KD\n\nHarris, TB\n\nAlavere, H\n\nHaller, T\n\nKeis, A\n\nTammesoo, ML\n\nAulchenko, Y\n\nBarroso, I\n\nKhaw, KT\n\nGalan, P\n\nHercberg, S\n\nLathrop, M\n\nEyheramendy, S\n\nOrg, E\n\nSõber, S\n\nLu, X\n\nNolte, IM\n\nPenninx, BW\n\nCorre, T\n\nMasciullo, C\n\nSala, C\n\nGroop, L\n\nVoight, BF\n\nMelander, O\n\nO'Donnell, CJ\n\nSalomaa, V\n\nd'Adamo, AP\n\nFabretto, A\n\nFaletra, F\n\nUlivi, S\n\nDel Greco, F\n\nFacheris, M\n\nCollins, FS\n\nBergman, RN\n\nBeilby, JP\n\nHung, J\n\nMusk, AW\n\nMangino, M\n\nShin, SY\n\nSoranzo, N\n\nWatkins, H\n\nGoel, A\n\nHamsten, A\n\nGider, P\n\nLoitfelder, M\n\nZeginigg, M\n\nHernandez, D\n\nNajjar, SS\n\nNavarro, P\n\nWild, SH\n\nCorsi, AM\n\nSingleton, A\n\nde Geus, EJ\n\nWillemsen, G\n\nParker, AN\n\nRose, LM\n\nBuckley, B\n\nStott, D\n\nOrru, M\n\nUda, M\n\nLifeLines Cohort Study\n\nvan der Klauw, MM\n\nZhang, W\n\nLi, X\n\nScott, J\n\nChen, YD\n\nBurke, GL\n\nKähönen, M\n\nViikari, J\n\nDöring, A\n\nMeitinger, T\n\nDavies, G\n\nStarr, JM\n\nEmilsson, V\n\nPlump, A\n\nLindeman, JH\n\nHoen, PA\n\nKönig, IR\n\nEchoGen consortium\n\nFelix, JF\n\nClarke, R\n\nHopewell, JC\n\nOngen, H\n\nBreteler, M\n\nDebette, S\n\nDestefano, AL\n\nFornage, M\n\nAortaGen Consortium\n\nMitchell, GF\n\nCHARGE Consortium Heart Failure Working Group\n\nSmith, NL\n\nKidneyGen consortium\n\nHolm, H\n\nStefansson, K\n\nThorleifsson, G\n\nThorsteinsdottir, U\n\nCKDGen consortium\n\nCardiogenics consortium\n\nCardioGram\n\nSamani, NJ\n\nPreuss, M\n\nRudan, I\n\nHayward, C\n\nDeary, IJ\n\nWichmann, HE\n\nRaitakari, OT\n\nPalmas, W\n\nKooner, JS\n\nStolk, RP\n\nJukema, JW\n\nWright, AF\n\nBoomsma, DI\n\nBandinelli, S\n\nGyllensten, UB\n\nWilson, JF\n\nFerrucci, L\n\nSchmidt, R\n\nFarrall, M\n\nSpector, TD\n\nPalmer, LJ\n\nTuomilehto, J\n\nPfeufer, A\n\nGasparini, P\n\nSiscovick, D\n\nAltshuler, D\n\nLoos, RJ\n\nToniolo, D\n\nSnieder, H\n\nGieger, C\n\nMeneton, P\n\nWareham, NJ\n\nOostra, BA\n\nMetspalu, A\n\nLauner, L\n\nRettig, R\n\nStrachan, DP\n\nBeckmann, JS\n\nWitteman, JC\n\nErdmann, J\n\nvan Dijk, KW\n\nBoerwinkle, E\n\nBoehnke, M\n\nRidker, PM\n\nJarvelin, MR\n\nChakravarti, A\n\nAbecasis, GR\n\nGudnason, V\n\nNewton-Cheh, C\n\nLevy, D\n\nMunroe, PB\n\nPsaty, BM\n\nCaulfield, MJ\n\nRao, DC\n\nTobin, MD\n\nElliott, P\n\nvan Duijn, CM\n\nBeiträge in Fachzeitschriften\nISI:000295316200017\n21909110.0\n10.1038/ng.922\nPMC3445021\nNumerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74, 64) and follow-up studies (N = 48, 07), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.\n\nKoini, Marisa\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
},
{
"text": "\n163343\nAssociation of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.\n\nInternational Consortium on Lithium Genetics (ConLi+Gen)\n\nAmare, AT\n\nSchubert, KO\n\nHou, L\n\nClark, SR\n\nPapiol, S\n\nHeilbronner, U\n\nDegenhardt, F\n\nTekola-Ayele, F\n\nHsu, YH\n\nShekhtman, T\n\nAdli, M\n\nAkula, N\n\nAkiyama, K\n\nArdau, R\n\nArias, B\n\nAubry, JM\n\nBacklund, L\n\nBhattacharjee, AK\n\nBellivier, F\n\nBenabarre, A\n\nBengesser, S\n\nBiernacka, JM\n\nBirner, A\n\nBrichant-Petitjean, C\n\nCervantes, P\n\nChen, HC\n\nChillotti, C\n\nCichon, S\n\nCruceanu, C\n\nCzerski, PM\n\nDalkner, N\n\nDayer, A\n\nDel Zompo, M\n\nDePaulo, JR\n\nÉtain, B\n\nFalkai, P\n\nForstner, AJ\n\nFrisen, L\n\nFrye, MA\n\nFullerton, JM\n\nGard, S\n\nGarnham, JS\n\nGoes, FS\n\nGrigoroiu-Serbanescu, M\n\nGrof, P\n\nHashimoto, R\n\nHauser, J\n\nHerms, S\n\nHoffmann, P\n\nHofmann, A\n\nJamain, S\n\nJiménez, E\n\nKahn, JP\n\nKassem, L\n\nKuo, PH\n\nKato, T\n\nKelsoe, J\n\nKittel-Schneider, S\n\nKliwicki, S\n\nKönig, B\n\nKusumi, I\n\nLaje, G\n\nLandén, M\n\nLavebratt, C\n\nLeboyer, M\n\nLeckband, SG\n\nTortorella, A\n\nManchia, M\n\nMartinsson, L\n\nMcCarthy, MJ\n\nMcElroy, S\n\nColom, F\n\nMitjans, M\n\nMondimore, FM\n\nMonteleone, P\n\nNievergelt, CM\n\nNöthen, MM\n\nNovák, T\n\nO'Donovan, C\n\nOzaki, N\n\nÖsby, U\n\nPfennig, A\n\nPotash, JB\n\nReif, A\n\nReininghaus, E\n\nRouleau, GA\n\nRybakowski, JK\n\nSchalling, M\n\nSchofield, PR\n\nSchweizer, BW\n\nSeverino, G\n\nShilling, PD\n\nShimoda, K\n\nSimhandl, C\n\nSlaney, CM\n\nSquassina, A\n\nStamm, T\n\nStopkova, P\n\nMaj, M\n\nTurecki, G\n\nVieta, E\n\nVolkert, J\n\nWitt, S\n\nWright, A\n\nZandi, PP\n\nMitchell, PB\n\nBauer, M\n\nAlda, M\n\nRietschel, M\n\nMcMahon, FJ\n\nSchulze, TG\n\nBaune, BT\n\nBeiträge in Fachzeitschriften\nISI:000419177700012\n29121268.0\n10.1001/jamapsychiatry.2017.3433\nPMC5833535\nLithium is a first-line mood stabilizer for the treatment of bipolar affective disorder (BPAD). However, the efficacy of lithium varies widely, with a nonresponse rate of up to 30%. Biological response markers are lacking. Genetic factors are thought to mediate treatment response to lithium, and there is a previously reported genetic overlap between BPAD and schizophrenia (SCZ).\n To test whether a polygenic score for SCZ is associated with treatment response to lithium in BPAD and to explore the potential molecular underpinnings of this association.\n A total of 2586 patients with BPAD who had undergone lithium treatment were genotyped and assessed for long-term response to treatment between 2008 and 2013. Weighted SCZ polygenic scores were computed at different P value thresholds using summary statistics from an international multicenter genome-wide association study (GWAS) of 36 989 individuals with SCZ and genotype data from patients with BPAD from the Consortium on Lithium Genetics. For functional exploration, a cross-trait meta-GWAS and pathway analysis was performed, combining GWAS summary statistics on SCZ and response to treatment with lithium. Data analysis was performed from September 2016 to February 2017.\n Treatment response to lithium was defined on both the categorical and continuous scales using the Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder score. The effect measures include odds ratios and the proportion of variance explained.\n Of the 2586 patients in the study (mean [SD] age, 47.2 [13.9] years), 1478 were women and 1108 were men. The polygenic score for SCZ was inversely associated with lithium treatment response in the categorical outcome, at a threshold P < 5 × 10-2. Patients with BPAD who had a low polygenic load for SCZ responded better to lithium, with odds ratios for lithium response ranging from 3.46 (95% CI, 1.42-8.41) at the first decile to 2.03 (95% CI, 0.86-4.81) at the ninth decile, compared with the patients in the 10th decile of SCZ risk. In the cross-trait meta-GWAS, 15 genetic loci that may have overlapping effects on lithium treatment response and susceptibility to SCZ were identified. Functional pathway and network analysis of these loci point to the HLA antigen complex and inflammatory cytokines.\n This study provides evidence for a negative association between high genetic loading for SCZ and poor response to lithium in patients with BPAD. These results suggest the potential for translational research aimed at personalized prescribing of lithium.\n\nBengesser, Susanne\n\nBirner, Armin\n\nDalkner, Nina\n\nReininghaus, Eva\n\n\n"
},
{
"text": "\n155365\nGenome-wide analysis identifies 12 loci influencing human reproductive behavior.\n\nBarban, N\n\nJansen, R\n\nde Vlaming, R\n\nVaez, A\n\nMandemakers, JJ\n\nTropf, FC\n\nShen, X\n\nWilson, JF\n\nChasman, DI\n\nNolte, IM\n\nTragante, V\n\nvan der Laan, SW\n\nPerry, JR\n\nKong, A\n\nBIOS Consortium\n\nAhluwalia, TS\n\nAlbrecht, E\n\nYerges-Armstrong, L\n\nAtzmon, G\n\nAuro, K\n\nAyers, K\n\nBakshi, A\n\nBen-Avraham, D\n\nBerger, K\n\nBergman, A\n\nBertram, L\n\nBielak, LF\n\nBjornsdottir, G\n\nBonder, MJ\n\nBroer, L\n\nBui, M\n\nBarbieri, C\n\nCavadino, A\n\nChavarro, JE\n\nTurman, C\n\nConcas, MP\n\nCordell, HJ\n\nDavies, G\n\nEibich, P\n\nEriksson, N\n\nEsko, T\n\nEriksson, J\n\nFalahi, F\n\nFelix, JF\n\nFontana, MA\n\nFranke, L\n\nGandin, I\n\nGaskins, AJ\n\nGieger, C\n\nGunderson, EP\n\nGuo, X\n\nHayward, C\n\nHe, C\n\nHofer, E\n\nHuang, H\n\nJoshi, PK\n\nKanoni, S\n\nKarlsson, R\n\nKiechl, S\n\nKifley, A\n\nKluttig, A\n\nKraft, P\n\nLagou, V\n\nLecoeur, C\n\nLahti, J\n\nLi-Gao, R\n\nLind, PA\n\nLiu, T\n\nMakalic, E\n\nMamasoula, C\n\nMatteson, L\n\nMbarek, H\n\nMcArdle, PF\n\nMcMahon, G\n\nMeddens, SF\n\nMihailov, E\n\nMiller, M\n\nMissmer, SA\n\nMonnereau, C\n\nvan der Most, PJ\n\nMyhre, R\n\nNalls, MA\n\nNutile, T\n\nKalafati, IP\n\nPorcu, E\n\nProkopenko, I\n\nRajan, KB\n\nRich-Edwards, J\n\nRietveld, CA\n\nRobino, A\n\nRose, LM\n\nRueedi, R\n\nRyan, KA\n\nSaba, Y\n\nSchmidt, D\n\nSmith, JA\n\nStolk, L\n\nStreeten, E\n\nTönjes, A\n\nThorleifsson, G\n\nUlivi, S\n\nWedenoja, J\n\nWellmann, J\n\nWilleit, P\n\nYao, J\n\nYengo, L\n\nZhao, JH\n\nZhao, W\n\nZhernakova, DV\n\nAmin, N\n\nAndrews, H\n\nBalkau, B\n\nBarzilai, N\n\nBergmann, S\n\nBiino, G\n\nBisgaard, H\n\nBønnelykke, K\n\nBoomsma, DI\n\nBuring, JE\n\nCampbell, H\n\nCappellani, S\n\nCiullo, M\n\nCox, SR\n\nCucca, F\n\nToniolo, D\n\nDavey-Smith, G\n\nDeary, IJ\n\nDedoussis, G\n\nDeloukas, P\n\nvan Duijn, CM\n\nde Geus, EJ\n\nEriksson, JG\n\nEvans, DA\n\nFaul, JD\n\nSala, CF\n\nFroguel, P\n\nGasparini, P\n\nGirotto, G\n\nGrabe, HJ\n\nGreiser, KH\n\nGroenen, PJ\n\nde Haan, HG\n\nHaerting, J\n\nHarris, TB\n\nHeath, AC\n\nHeikkilä, K\n\nHofman, A\n\nHomuth, G\n\nHolliday, EG\n\nHopper, J\n\nHyppönen, E\n\nJacobsson, B\n\nJaddoe, VW\n\nJohannesson, M\n\nJugessur, A\n\nKähönen, M\n\nKajantie, E\n\nKardia, SL\n\nKeavney, B\n\nKolcic, I\n\nKoponen, P\n\nKovacs, P\n\nKronenberg, F\n\nKutalik, Z\n\nLa Bianca, M\n\nLachance, G\n\nIacono, WG\n\nLai, S\n\nLehtimäki, T\n\nLiewald, DC\n\nLifeLines Cohort Study\n\nLindgren, CM\n\nLiu, Y\n\nLuben, R\n\nLucht, M\n\nLuoto, R\n\nMagnus, P\n\nMagnusson, PK\n\nMartin, NG\n\nMcGue, M\n\nMcQuillan, R\n\nMedland, SE\n\nMeisinger, C\n\nMellström, D\n\nMetspalu, A\n\nTraglia, M\n\nMilani, L\n\nMitchell, P\n\nMontgomery, GW\n\nMook-Kanamori, D\n\nde Mutsert, R\n\nNohr, EA\n\nOhlsson, C\n\nOlsen, J\n\nOng, KK\n\nPaternoster, L\n\nPattie, A\n\nPenninx, BW\n\nPerola, M\n\nPeyser, PA\n\nPirastu, M\n\nPolasek, O\n\nPower, C\n\nKaprio, J\n\nRaffel, LJ\n\nRäikkönen, K\n\nRaitakari, O\n\nRidker, PM\n\nRing, SM\n\nRoll, K\n\nRudan, I\n\nRuggiero, D\n\nRujescu, D\n\nSalomaa, V\n\nSchlessinger, D\n\nSchmidt, H\n\nSchmidt, R\n\nSchupf, N\n\nSmit, J\n\nSorice, R\n\nSpector, TD\n\nStarr, JM\n\nStöckl, D\n\nStrauch, K\n\nStumvoll, M\n\nSwertz, MA\n\nThorsteinsdottir, U\n\nThurik, AR\n\nTimpson, NJ\n\nTung, JY\n\nUitterlinden, AG\n\nVaccargiu, S\n\nViikari, J\n\nVitart, V\n\nVölzke, H\n\nVollenweider, P\n\nVuckovic, D\n\nWaage, J\n\nWagner, GG\n\nWang, JJ\n\nWareham, NJ\n\nWeir, DR\n\nWillemsen, G\n\nWilleit, J\n\nWright, AF\n\nZondervan, KT\n\nStefansson, K\n\nKrueger, RF\n\nLee, JJ\n\nBenjamin, DJ\n\nCesarini, D\n\nKoellinger, PD\n\nden Hoed, M\n\nSnieder, H\n\nMills, MC\n\nBeiträge in Fachzeitschriften\nISI:000389011100006\n27798627.0\n10.1038/ng.3698\nPMC5695684\nThe genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251, 51 individuals for AFB and 343, 72 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.\n\nHofer, Edith\n\nSABA, Yasaman\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
},
{
"text": "\n3063\nCentral nervous system control of micturition in patients with bladder dysfunctions in comparison with healthy control probands. An electrophysiological study\n\nColombo, T\n\nWieselmann, G\n\nPichler-Zalaudek, K\n\nSteinbrenner, B\n\nJantscher, M\n\nHalbwedl, I\n\nZapotoczky, HG\n\nHubmer, G\n\nBeiträge in Fachzeitschriften\nISI:000086913000007\n10768227.0\n10.1007/s001200050025\nNone\nPURPOSE: The pontine micturition center plays a central role in regulating the micturition reflex, but the precise neural mechanisms are unclear. The cerebral cortex is involved in coordinating micturition but there is little knowledge on specific evolutionary higher brain regions. The present study aimed to investigate whether cortical activation during micturition can be demonstrated by EEG power spectra patterns and to explore whether specific cortical regions involved in the interaction of inhibition and release during the micturition reflex can be discerned. We also aimed to test whether intravesical electrostimulation (IVES) therapy in patients with micturition disorders has an effect on patterns of cortical activity. METHODS: The healthy control group was divided into those who were able to void when requested (6 women, 12 men) and those who were not (8 women, 10 men). These subgroups were compared separately with the 14 patients before and after IVES for voiding dysfunction. Following IVES all patients were able to void spontaneously. Mean age of the patients and healthy volunteers was 52 and 30 years, respectively. At the beginning of the study all subjects had a bladder volume of approximately 250 mL as measured by sonography. The EEG was obtained at rest and during the attempt to void. In the patients' group EEG was obtained before IVES treatment and at the day of the last stimulation. The measurement period lasted about 6 minutes. At the beginning of the recording the proband was asked to close his/her eyes. During the resting period after 1 minute the patient was asked to open his/her eyes. After 10 seconds he/she was asked to close his/her eyes again. Then, with eyes still closed, the patient was asked to void. During the entire EEG recording the patient was seated in a comfortable, electrically isolated chair in a darkened room and separated from the examiner by a partition. The subject was asked to relax and not move his/her eyes. The EEG was recorded from the 19 standard points (10-20 System) versus an averaged mastoid electrode with a gold-plated cup electrode (Glass). An EOG was recorded simultaneously to register eye artefacts. The amplification chain was calibrated with a 10-Hz 100-microVss sinus signal generated with a biosignal amplifier. The transitional resistances of all EEG channels were less than 5 kOhm and established as soon as possible. EEG and EOG signals were amplified and recorded with a B.E.S.T. Brain Mapping System. The recording frequency was 256 Hz and the resolution of the analog digital conversion was 12 bit. A high pass and a low pass filter were set to 0.53 Hz and 70 Hz, respectively. All recordings were inspected visually before computer analysis. Artefacts were marked and excluded from the further analysis. None of the EEG recordings showed clinical abnormalities. As expected, the EEGs during voiding attempts showed some muscle potentials and slow motion artefacts. For each subject two artefact-free resting segments of about 20 seconds, one from the resting phase and one from the voiding attempt, were defined by hand for automated analysis. Relative power spectra (microV2) were calculated for the defined segments. From the spectra the relative alpha band power (7.5-13.0 Hz) was calculated for each subject for rest and voiding. Group (patients vs. voiding probands vs. probands unable to void) and sex were independent variables. The alpha power of the 17 electrode positions of the 10-20 system (without Fp1 and Fp2) during rest and attempted voiding were repeated measurement variables. The frontopolar electrode was not used because of its susceptibility to artefacts. The number of dependent variables was due to the explorative nature of the study. With interactions of variables with more than two factor levels a Greenhouse-Geisser correction was performed. Interactions were subjected to contrast analysis and Newman-Keuls-Post tests. RESULTS: Significant effects were seen for BEDINGUNG (\n\nHalbwedl, Iris\n\nSchmid-Zalaudek, Karin\n\n\n"
},
{
"text": "\n171057\nInterdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.\n\nEmons, G\n\nSteiner, E\n\nVordermark, D\n\nUleer, C\n\nBock, N\n\nParadies, K\n\nOrtmann, O\n\nAretz, S\n\nMallmann, P\n\nKurzeder, C\n\nHagen, V\n\nvan Oorschot, B\n\nHöcht, S\n\nFeyer, P\n\nEgerer, G\n\nFriedrich, M\n\nCremer, W\n\nPrott, FJ\n\nHorn, LC\n\nPrömpeler, H\n\nLangrehr, J\n\nLeinung, S\n\nBeckmann, MW\n\nKimmig, R\n\nLetsch, A\n\nReinhardt, M\n\nAlt-Epping, B\n\nKiesel, L\n\nMenke, J\n\nGebhardt, M\n\nSteinke-Lange, V\n\nRahner, N\n\nLichtenegger, W\n\nZeimet, A\n\nHanf, V\n\nWeis, J\n\nMueller, M\n\nHenscher, U\n\nSchmutzler, RK\n\nMeindl, A\n\nHilpert, F\n\nPanke, JE\n\nStrnad, V\n\nNiehues, C\n\nDauelsberg, T\n\nNiehoff, P\n\nMayr, D\n\nGrab, D\n\nKreißl, M\n\nWitteler, R\n\nSchorsch, A\n\nMustea, A\n\nPetru, E\n\nHübner, J\n\nRose, AD\n\nWight, E\n\nTholen, R\n\nBauerschmitz, GJ\n\nFleisch, M\n\nJuhasz-Boess, I\n\nLax, S\n\nRunnebaum, I\n\nTempfer, C\n\nNothacker, MJ\n\nBlödt, S\n\nFollmann, M\n\nLanger, T\n\nRaatz, H\n\nWesselmann, S\n\nErdogan, S\n\nBeiträge in Fachzeitschriften\nISI:000451318500008\n30581199.0\n10.1055/a-0715-2964\nPMC6261739\nSummary The first German interdisciplinary S3-guideline on the diagnosis, therapy and follow-up of patients with endometrial cancer was published in April 2018. Funded by German Cancer Aid as part of an Oncology Guidelines Program, the lead coordinators of the guideline were the German Society of Gynecology and Obstetrics (DGGG) and the Gynecological Oncology Working Group (AGO) of the German Cancer Society (DKG). Purpose Using evidence-based, risk-adapted therapy to treat low-risk women with endometrial cancer avoids unnecessarily radical surgery and non-useful adjuvant radiotherapy and/or chemotherapy. This can significantly reduce therapy-induced morbidity and improve the patient's quality of life as well as avoiding unnecessary costs. For women with endometrial cancer and a high risk of recurrence, the guideline defines the optimal extent of surgical radicality together with the appropriate chemotherapy and/or adjuvant radiotherapy if required. An evidence-based optimal use of different therapeutic modalities should improve the survival rates and quality of life of these patients. This S3-guideline on endometrial cancer is intended as a basis for certified gynecological cancer centers. The aim is that the quality indicators established in this guideline will be incorporated in the certification processes of these centers. Methods The guideline was compiled in accordance with the requirements for S3-level guidelines. This includes, in the first instance, the adaptation of source guidelines selected using the DELBI instrument for appraising guidelines. Other consulted sources included reviews of evidence, which were compiled from literature selected during systematic searches of literature databases using the PICO scheme. In addition, an external biostatistics institute was commissioned to carry out a systematic search and assessment of the literature for one part of the guideline. Identified materials were used by the interdisciplinary working groups to develop suggestions for Recommendations and Statements, which were then subsequently modified during structured consensus conferences and/or additionally amended online using the DELPHI method, with consent between members achieved online. The guideline report is freely available online. Recommendations Part 2 of this short version of the guideline presents recommendations for the therapy of endometrial cancer including precancers and early endometrial cancer as well as recommendations on palliative medicine, psycho-oncology, rehabilitation, patient information and healthcare facilities to treat endometrial cancer. The management of precancers of early endometrial precancerous conditions including fertility-preserving strategies is presented. The concept used for surgical primary therapy of endometrial cancer is described. Radiotherapy and adjuvant medical therapy to treat endometrial cancer and uterine carcinosarcomas are described. Recommendations are given for the follow-up care of endometrial cancer, recurrence and metastasis. Palliative medicine, psycho-oncology including psychosocial care, and patient information and rehabilitation are presented. Finally, the care algorithm and quality assurance steps for the diagnosis, therapy and follow-up of patients with endometrial cancer are outlined.\n\nPetru, Edgar\n\n\n"
},
{
"text": "\n182342\nARIA digital anamorphosis: Digital transformation of health and care in airway diseases from research to practice.\n\nBousquet, J\n\nAnto, JM\n\nBachert, C\n\nHaahtela, T\n\nZuberbier, T\n\nCzarlewski, W\n\nBedbrook, A\n\nBosnic-Anticevich, S\n\nWalter Canonica, G\n\nCardona, V\n\nElisioCosta, V\n\nCruz, AA\n\nErhola, M\n\nFokkens, WJ\n\nFonseca, JA\n\nIllario, M\n\nCarlosIvancevich, J\n\nJutel, M\n\nKlimek, L\n\nPiotrKuna, L\n\nKvedariene, V\n\nLe, L\n\nLarenas-Linnemann, D\n\nLaune, D\n\nLourenço, OM\n\nMelén, E\n\nMullol, J\n\nNiedoszytko, M\n\nOdemyr, M\n\nOkamoto, Y\n\nPapadopoulos, NG\n\nPatella, V\n\nPfaar, O\n\nPham-Thi, N\n\nRolland, C\n\nSamolinski, B\n\nSheikh, A\n\nSofiev, M\n\nSuppliUlrik, C\n\nTodo-Bom, A\n\nTomazic, PV\n\nToppila-Salmi, S\n\nTsiligianni, I\n\nValiulis, A\n\nValovirta, E\n\nVentura, MT\n\nWalker, S\n\nWilliams, S\n\nYorgancioglu, A\n\nAgache, I\n\nAkdis, CA\n\nAlmeida, R\n\nAnsotegui, IJ\n\nAnnesi-Maesano, I\n\nArnavielhe, S\n\nBasagaña, X\n\nBateman, E\n\nBédard, A\n\nBedolla-Barajas, M\n\nBecker, S\n\nBennoor, KS\n\nBenveniste, S\n\nBergmann, KC\n\nBewick, M\n\nBialek, S\n\nBillo, N\n\nBindslev-Jensen, C\n\nBjermer, L\n\nBlain, H\n\nBonini, M\n\nBonniaud, P\n\nBosse, I\n\nBouchard, J\n\nBoulet, LP\n\nBourret, R\n\nBoussery, K\n\nBraido, F\n\nBriedis, V\n\nBriggs, A\n\nBrightling, CE\n\nJanBrozek, CE\n\nBrusselle, G\n\nBrussino, L\n\nBuhl, R\n\nBuonaiuto, R\n\nCalderon, MA\n\nCamargos, P\n\nCamuzat, T\n\nCaraballo, L\n\nCarriazo, AM\n\nCarr, W\n\nCartier, C\n\nCasale, T\n\nCecchi, L\n\nCepeda Sarabia, AM\n\nChavannes, N\n\nChkhartishvili, E\n\nChu, DK\n\nCingi, C\n\nCorreia de Sousa, J\n\nCosta, DJ\n\nCourbis, AL\n\nCustovic, A\n\nCvetkosvki, B\n\nD´Amato, G\n\nda Silva, J\n\nDantas, C\n\nDokic, D\n\nDauvilliers, Y\n\nDe Feo, G\n\nDe Vries, G\n\nDevillier, P\n\nDi Capua, S\n\nDray, G\n\nDubakiene, R\n\nDurham, SR\n\nDykewicz, M\n\nEbisawa, M\n\nGaga, M\n\nEl-Gamal, Y\n\nHeffler, E\n\nEmuzyte, R\n\nFarrell, J\n\nFauquert, JL\n\nFiocchi, A\n\nFink-Wagner, A\n\nFontaine, JF\n\nFuentes Perez, JM\n\nGemicioğlu, B\n\nGamkrelidze, A\n\nGarcia-Aymerich, J\n\nGevaert, P\n\nGomez, M\n\nGonzález Diaz, S\n\nGotua, M\n\nGuldemond, NA\n\nGuzmán, MA\n\nHajjam, J\n\nHuerta Villalobos, YR\n\nHumbert, M\n\nIaccarino, G\n\nIerodiakonou, D\n\nTomohisaIinuma, D\n\nJassem, E\n\nJoos, G\n\nJung, KS\n\nKaidashev, I\n\nKalayci, O\n\nKardas, P\n\nKeil, T\n\nKhaitov, M\n\nKhaltaev, N\n\nKleine-Tebbe, J\n\nKouznetsov, R\n\nKowalski, ML\n\nKritikos, V\n\nKull, I\n\nLa Grutta, S\n\nLeonardini, L\n\nLjungberg, H\n\nLieberman, P\n\nLipworth, B\n\nLodrup Carlsen, KC\n\nLopes-Pereira, C\n\nLoureiro, CC\n\nLouis, R\n\nMair, A\n\nMahboub, B\n\nMakris, M\n\nMalva, J\n\nManning, P\n\nMarshall, GD\n\nMasjedi, MR\n\nMaspero, JF\n\nCarreiro-Martins, P\n\nMakela, M\n\nMathieu-Dupas, E\n\nMaurer, M\n\nDe Manuel Keenoy, E\n\nMelo-Gomes, E\n\nMeltzer, EO\n\nMenditto, E\n\nMercier, J\n\nMicheli, Y\n\nMiculinic, N\n\nMihaltan, F\n\nMilenkovic, B\n\nMitsias, D\n\nModa, G\n\nMogica-Martinez, MD\n\nMohammad, Y\n\nMontefort, S\n\nMonti, R\n\nMorais-Almeida, M\n\nMösges, R\n\nMünter, L\n\nMuraro, A\n\nMurray, R\n\nNaclerio, R\n\nNapoli, L\n\nNamazova-Baranova, L\n\nNeffen, H\n\nNekam, K\n\nNeou, A\n\nNordlund, B\n\nNovellino, E\n\nNyembue, D\n\nO´Hehir, R\n\nOhta, K\n\nOkubo, K\n\nOnorato, GL\n\nOuedraogo, S\n\nPalamarchuk, J\n\nPali-Schöll, I\n\nPanzner, P\n\nPark, HS\n\nPassalacqua, G\n\nPépin, JL\n\nPaulino, E\n\nPhillips, J\n\nPicard, R\n\nPinnock, H\n\nPlavec, D\n\nPopov, TA\n\nPortejoie, F\n\nPrice, D\n\nProkopakis, EP\n\nPsarros, F\n\nPugin, B\n\nPuggioni, F\n\nQuinones-Delgado, P\n\nRaciborski, F\n\nRajabian-Söderlund, R\n\nRegateiro, FS\n\nReitsma, S\n\nRivero-Yeverino, D\n\nRoberts, G\n\nRoche, N\n\nRodriguez-Zagal, E\n\nRolland, C\n\nRoller-Wirnsberger, RE\n\nRosario, N\n\nRomano, A\n\nRottem, M\n\nRyan, D\n\nSalimäki, J\n\nSanchez-Borges, MM\n\nSastre, J\n\nScadding, GK\n\nScheire, S\n\nSchmid-Grendelmeier, P\n\nSchünemann, HJ\n\nSerpa, F\n\nShamji, M\n\nSisul, JC\n\nSofiev, M\n\nSolé, D\n\nSomekh, D\n\nSooronbaev, T\n\nSova, M\n\nSpertini, F\n\nSpranger, O\n\nStellato, C\n\n\n\nBeiträge in Fachzeitschriften\nISI:000581175300001\n32512619.0\n10.1111/all.14422\nNone\nDigital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis.It strengthens the ARIA change management strategy in the prevention and managementof airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.\n This article is protected by copyright. All rights reserved.\n\nRoller-Wirnsberger, Regina\n\nTomazic, Peter Valentin\n\n\n"
},
{
"text": "\n137682\nAssociation of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.\n\nVimaleswaran, KS\n\nCavadino, A\n\nBerry, DJ\n\nLifeLines Cohort Study investigators\n\nJorde, R\n\nDieffenbach, AK\n\nLu, C\n\nAlves, AC\n\nHeerspink, HJ\n\nTikkanen, E\n\nEriksson, J\n\nWong, A\n\nMangino, M\n\nJablonski, KA\n\nNolte, IM\n\nHouston, DK\n\nAhluwalia, TS\n\nvan der Most, PJ\n\nPasko, D\n\nZgaga, L\n\nThiering, E\n\nVitart, V\n\nFraser, RM\n\nHuffman, JE\n\nde Boer, RA\n\nSchöttker, B\n\nSaum, KU\n\nMcCarthy, MI\n\nDupuis, J\n\nHerzig, KH\n\nSebert, S\n\nPouta, A\n\nLaitinen, J\n\nKleber, ME\n\nNavis, G\n\nLorentzon, M\n\nJameson, K\n\nArden, N\n\nCooper, JA\n\nAcharya, J\n\nHardy, R\n\nRaitakari, O\n\nRipatti, S\n\nBillings, LK\n\nLahti, J\n\nOsmond, C\n\nPenninx, BW\n\nRejnmark, L\n\nLohman, KK\n\nPaternoster, L\n\nStolk, RP\n\nHernandez, DG\n\nByberg, L\n\nHagström, E\n\nMelhus, H\n\nIngelsson, E\n\nMellström, D\n\nLjunggren, O\n\nTzoulaki, I\n\nMcLachlan, S\n\nTheodoratou, E\n\nTiesler, CM\n\nJula, A\n\nNavarro, P\n\nWright, AF\n\nPolasek, O\n\nInternational Consortium for Blood Pressure (ICBP)\n\nCohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium\n\nGlobal Blood Pressure Genetics (Global BPGen) consortium\n\nCaroline Hayward\n\nWilson, JF\n\nRudan, I\n\nSalomaa, V\n\nHeinrich, J\n\nCampbell, H\n\nPrice, JF\n\nKarlsson, M\n\nLind, L\n\nMichaëlsson, K\n\nBandinelli, S\n\nFrayling, TM\n\nHartman, CA\n\nSørensen, TI\n\nKritchevsky, SB\n\nLangdahl, BL\n\nEriksson, JG\n\nFlorez, JC\n\nSpector, TD\n\nLehtimäki, T\n\nKuh, D\n\nHumphries, SE\n\nCooper, C\n\nOhlsson, C\n\nMärz, W\n\nde Borst, MH\n\nKumari, M\n\nKivimaki, M\n\nWang, TJ\n\nPower, C\n\nBrenner, H\n\nGrimnes, G\n\nvan der Harst, P\n\nSnieder, H\n\nHingorani, AD\n\nPilz, S\n\nWhittaker, JC\n\nJärvelin, MR\n\nHyppönen, E\n\nBeiträge in Fachzeitschriften\nISI:000341800000014\n24974252.0\n10.1016/S2213-8587(14)70113-5\nPMC4582411\nLow plasma 25-hydroxyvitamin D (25[OH]D) concentration is associated with high arterial blood pressure and hypertension risk, but whether this association is causal is unknown. We used a mendelian randomisation approach to test whether 25(OH)D concentration is causally associated with blood pressure and hypertension risk.\n In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7), which we used as a proxy for 25(OH)D concentration. We meta-analysed data for up to 108 173 individuals from 35 studies in the D-CarDia collaboration to investigate associations between the allele score and blood pressure measurements. We complemented these analyses with previously published summary statistics from the International Consortium on Blood Pressure (ICBP), the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and the Global Blood Pressure Genetics (Global BPGen) consortium.\n In phenotypic analyses (up to n=49 363), increased 25(OH)D concentration was associated with decreased systolic blood pressure (β per 10% increase, -0·12 mm Hg, 95% CI -0·20 to -0·04; p=0·003) and reduced odds of hypertension (odds ratio [OR] 0·98, 95% CI 0·97-0·99; p=0·0003), but not with decreased diastolic blood pressure (β per 10% increase, -0·02 mm Hg, -0·08 to 0·03; p=0·37). In meta-analyses in which we combined data from D-CarDia and the ICBP (n=146 581, after exclusion of overlapping studies), each 25(OH)D-increasing allele of the synthesis score was associated with a change of -0·10 mm Hg in systolic blood pressure (-0·21 to -0·0001; p=0·0498) and a change of -0·08 mm Hg in diastolic blood pressure (-0·15 to -0·02; p=0·01). When D-CarDia and consortia data for hypertension were meta-analysed together (n=142 255), the synthesis score was associated with a reduced odds of hypertension (OR per allele, 0·98, 0·96-0·99; p=0·001). In instrumental variable analysis, each 10% increase in genetically instrumented 25(OH)D concentration was associated with a change of -0·29 mm Hg in diastolic blood pressure (-0·52 to -0·07; p=0·01), a change of -0·37 mm Hg in systolic blood pressure (-0·73 to 0·003; p=0·052), and an 8·1% decreased odds of hypertension (OR 0·92, 0·87-0·97; p=0·002).\n Increased plasma concentrations of 25(OH)D might reduce the risk of hypertension. This finding warrants further investigation in an independent, similarly powered study.\n British Heart Foundation, UK Medical Research Council, and Academy of Finland.\n Copyright © 2014 Vimaleswaran et al. Open Access article distributed under the terms of CC BY. Published by .. All rights reserved.\n\nMärz, Winfried\n\nPilz, Stefan\n\n\n"
},
{
"text": "\n161544\nThe <i>Global Alliance for Infections in Surgery:</i> defining a model for antimicrobial stewardship-results from an international cross-sectional survey.\n\nSartelli, M\n\nLabricciosa, FM\n\nBarbadoro, P\n\nPagani, L\n\nAnsaloni, L\n\nBrink, AJ\n\nCarlet, J\n\nKhanna, A\n\nChichom-Mefire, A\n\nCoccolini, F\n\nDi Saverio, S\n\nMay, AK\n\nViale, P\n\nWatkins, RR\n\nScudeller, L\n\nAbbo, LM\n\nAbu-Zidan, FM\n\nAdesunkanmi, AK\n\nAl-Dahir, S\n\nAl-Hasan, MN\n\nAlis, H\n\nAlves, C\n\nAraujo da Silva, AR\n\nAugustin, G\n\nBala, M\n\nBarie, PS\n\nBeltrán, MA\n\nBhangu, A\n\nBouchra, B\n\nBrecher, SM\n\nCaínzos, MA\n\nCamacho-Ortiz, A\n\nCatani, M\n\nChandy, SJ\n\nJusoh, AC\n\nCherry-Bukowiec, JR\n\nChiara, O\n\nColak, E\n\nCornely, OA\n\nCui, Y\n\nDemetrashvili, Z\n\nDe Simone, B\n\nDe Waele, JJ\n\nDhingra, S\n\nDi Marzo, F\n\nDogjani, A\n\nDorj, G\n\nDortet, L\n\nDuane, TM\n\nElmangory, MM\n\nEnani, MA\n\nFerrada, P\n\nEsteban Foianini, J\n\nGachabayov, M\n\nGandhi, C\n\nGhnnam, WM\n\nGiamarellou, H\n\nGkiokas, G\n\nGomi, H\n\nGoranovic, T\n\nGriffiths, EA\n\nGuerra Gronerth, RI\n\nHaidamus Monteiro, JC\n\nHardcastle, TC\n\nHecker, A\n\nHodonou, AM\n\nIoannidis, O\n\nIsik, A\n\nIskandar, KA\n\nKafil, HS\n\nKanj, SS\n\nKaplan, LJ\n\nKapoor, G\n\nKaramarkovic, AR\n\nKenig, J\n\nKerschaever, I\n\nKhamis, F\n\nKhokha, V\n\nKiguba, R\n\nKim, HB\n\nKo, WC\n\nKoike, K\n\nKozlovska, I\n\nKumar, A\n\nLagunes, L\n\nLatifi, R\n\nLee, JG\n\nLee, YR\n\nLeppäniemi, A\n\nLi, Y\n\nLiang, SY\n\nLowman, W\n\nMachain, GM\n\nMaegele, M\n\nMajor, P\n\nMalama, S\n\nManzano-Nunez, R\n\nMarinis, A\n\nMartinez Casas, I\n\nMarwah, S\n\nMaseda, E\n\nMcFarlane, ME\n\nMemish, Z\n\nMertz, D\n\nMesina, C\n\nMishra, SK\n\nMoore, EE\n\nMunyika, A\n\nMylonakis, E\n\nNapolitano, L\n\nNegoi, I\n\nNestorovic, MD\n\nNicolau, DP\n\nOmari, AH\n\nOrdonez, CA\n\nPaiva, JA\n\nPant, ND\n\nParreira, JG\n\nPędziwiatr, M\n\nPereira, BM\n\nPonce-de-Leon, A\n\nPoulakou, G\n\nPreller, J\n\nPulcini, C\n\nPupelis, G\n\nQuiodettis, M\n\nRawson, TM\n\nReis, T\n\nRems, M\n\nRizoli, S\n\nRoberts, J\n\nPereira, NR\n\nRodríguez-Baño, J\n\nSakakushev, B\n\nSanders, J\n\nSantos, N\n\nSato, N\n\nSawyer, RG\n\nScarpelini, S\n\nScoccia, L\n\nShafiq, N\n\nShelat, V\n\nSifri, CD\n\nSiribumrungwong, B\n\nSøreide, K\n\nSoto, R\n\nde Souza, HP\n\nTalving, P\n\nTrung, NT\n\nTessier, JM\n\nTumbarello, M\n\nUlrych, J\n\nUranues, S\n\nVan Goor, H\n\nVereczkei, A\n\nWagenlehner, F\n\nXiao, Y\n\nYuan, KC\n\nWechsler-Fördös, A\n\nZahar, JR\n\nZakrison, TL\n\nZuckerbraun, B\n\nZuidema, WP\n\nCatena, F\n\nBeiträge in Fachzeitschriften\nISI:000406955300001\n28775763.0\n10.1186/s13017-017-0145-2\nPMC5540347\nAntimicrobial Stewardship Programs (ASPs) have been promoted to optimize antimicrobial usage and patient outcomes, and to reduce the emergence of antimicrobial-resistant organisms. However, the best strategies for an ASP are not definitively established and are likely to vary based on local culture, policy, and routine clinical practice, and probably limited resources in middle-income countries. The aim of this study is to evaluate structures and resources of antimicrobial stewardship teams (ASTs) in surgical departments from different regions of the world.\n A cross-sectional web-based survey was conducted in 2016 on 173 physicians who participated in the AGORA (Antimicrobials: A Global Alliance for Optimizing their Rational Use in Intra-Abdominal Infections) project and on 658 international experts in the fields of ASPs, infection control, and infections in surgery.\n The response rate was 19.4%. One hundred fifty-six (98.7%) participants stated their hospital had a multidisciplinary AST. The median number of physicians working inside the team was five [interquartile range 4-6]. An infectious disease specialist, a microbiologist and an infection control specialist were, respectively, present in 80.1, 76.3, and 67.9% of the ASTs. A surgeon was a component in 59.0% of cases and was significantly more likely to be present in university hospitals (89.5%, p < 0.05) compared to community teaching (83.3%) and community hospitals (66.7%). Protocols for pre-operative prophylaxis and for antimicrobial treatment of surgical infections were respectively implemented in 96.2 and 82.3% of the hospitals. The majority of the surgical departments implemented both persuasive and restrictive interventions (72.8%). The most common types of interventions in surgical departments were dissemination of educational materials (62.5%), expert approval (61.0%), audit and feedback (55.1%), educational outreach (53.7%), and compulsory order forms (51.5%).\n The survey showed a heterogeneous organization of ASPs worldwide, demonstrating the necessity of a multidisciplinary and collaborative approach in the battle against antimicrobial resistance in surgical infections, and the importance of educational efforts towards this goal.\n\nUranüs, Selman\n\n\n"
},
{
"text": "\n176542\nBodyweight-adjusted rivaroxaban for children with venous thromboembolism (EINSTEIN-Jr): results from three multicentre, single-arm, phase 2 studies.\n\nMonagle, P\n\nLensing, AWA\n\nThelen, K\n\nMartinelli, I\n\nMale, C\n\nSantamaría, A\n\nSamochatova, E\n\nKumar, R\n\nHolzhauer, S\n\nSaracco, P\n\nSimioni, P\n\nRobertson, J\n\nGrangl, G\n\nHalton, J\n\nConnor, P\n\nYoung, G\n\nMolinari, AC\n\nNowak-Göttl, U\n\nKenet, G\n\nKapsa, S\n\nWillmann, S\n\nPap, AF\n\nBecka, M\n\nTwomey, T\n\nBeyer-Westendorf, J\n\nPrins, MH\n\nKubitza, D\n\nEINSTEIN-Jr Phase 2 Investigators\n\nBeiträge in Fachzeitschriften\nISI:000487595800007\n31420317.0\n10.1016/S2352-3026(19)30161-9\nNone\nRivaroxaban has been shown to be efficacious for treatment of venous thromboembolism in adults, and has a reduced risk of bleeding compared with standard anticoagulants. We aimed to develop paediatric rivaroxaban regimens for the treatment of venous thromboembolism in children and adolescents.\n In this phase 2 programme, we did three studies to evaluate rivaroxaban treatment in children younger than 6 months, aged 6 months to 5 years, and aged 6-17 years. Our studies used a multicentre, single-arm design at 54 sites in Australia, Europe, Israel, Japan, and north America. We included children with objectively confirmed venous thromboembolism previously treated with low-molecular weight heparin, fondaparinux, or a vitamin K antagonist for at least 2 months or, in children who had catheter-related venous thromboembolism for at least 6 weeks. We administered rivaroxaban orally in a bodyweight-adjusted 20 mg-equivalent dose, based on physiologically-based pharmacokinetic modelling predictions and EINSTEIN-Jr phase 1 data in young adults, in either a once-daily (tablets; for those aged 6-17 years), twice-daily (in suspension; for those aged 6 months to 11 years), or three times-daily (in suspension; for those younger than 6 months) dosing regimen for 30 days (or 7 days for those younger than 6 months). The primary aim was to define rivaroxaban treatment regimens that match the target adult exposure range. The principal safety outcome was major bleeding and clinically relevant non-major bleeding. Analyses were per-protocol. The predefined efficacy outcomes were symptomatic recurrent venous thromboembolism, asymptomatic deterioration on repeat imaging at the end of the study treatment period. These trials are registered at ClinicalTrials.gov, numbers NCT02564718, NCT02309411, and NCT02234843.\n Between Feb 11, 2013, and Dec 20, 2017, we enrolled 93 children (ten children younger than 6 months; 15 children aged 6 months to 1 year; 25 children aged 2-5 years; 32 children aged 6-11 years; and 11 children aged 12-17 years) into our study. 89 (96%) children completed study treatment (30 days of treatment, or 7 days in those younger than 6 months), and 93 (100%) children received at least one dose of study treatment and were evaluable for the primary endpoints. None of the children had a major bleed, and four (4%, 95% CI 1·2-10·6) of these children had a clinically relevant non-major bleed (three children aged 12-17 years with menorrhagia and one child aged 6-11 years with gingival bleeding). We found no symptomatic recurrent venous thromboembolism in any patients (0%, 0·0-3·9). 24 (32%) of 75 patients with repeat imaging had their thrombotic burden resolved, 43 (57%) patients improved, and eight (11%) patients were unchanged. No patient deteriorated. We confirmed therapeutic rivaroxaban exposures with once-daily dosing in children with bodyweights of at least 30 kg and with twice-daily dosing in children with bodyweights of at least 20 kg and less than 30 kg. Children with low bodyweights (<20 kg, particularly <12 kg) showed low exposures so, for future studies, rivaroxaban dosages were revised for these weight categories, to match the target adult exposure range. 61 (66%) of 93 children had adverse events during the study. Pyrexia was the most common adverse event (ten [11%] events), and anaemia and neutropenia or febrile neutropenia were the most frequent grade 3 or worse events (four [4%] events each). No children died or were discontinued from rivaroxaban because of adverse events.\n Treatment with bodyweight-adjusted rivaroxaban appears to be safe in children. The treatment regimens that we confirmed in children with bodyweights of at least 20 kg and the revised treatment regimens that we predicted in those with bodyweights less than 20 kg will be evaluated in the EINSTEIN-Jr phase 3 trial in children with acute venous thromboembolism.\n Bayer AG, Janssen Research and Development.\n Copyright © 2019 Elsevier Ltd. All rights reserved.\n\nGrangl, Gernot\n\n\n"
},
{
"text": "\n123901\nAllergic Rhinitis and its Impact on Asthma (ARIA): Achievements in 10 years and future needs.\n\nBousquet, J\n\nSchünemann, HJ\n\nSamolinski, B\n\nDemoly, P\n\nBaena-Cagnani, CE\n\nBachert, C\n\nBonini, S\n\nBoulet, LP\n\nBousquet, PJ\n\nBrozek, JL\n\nCanonica, GW\n\nCasale, TB\n\nCruz, AA\n\nFokkens, WJ\n\nFonseca, JA\n\nvan Wijk, RG\n\nGrouse, L\n\nHaahtela, T\n\nKhaltaev, N\n\nKuna, P\n\nLockey, RF\n\nLodrup Carlsen, KC\n\nMullol, J\n\nNaclerio, R\n\nO'Hehir, RE\n\nOhta, K\n\nPalkonen, S\n\nPapadopoulos, NG\n\nPassalacqua, G\n\nPawankar, R\n\nPrice, D\n\nRyan, D\n\nSimons, FE\n\nTogias, A\n\nWilliams, D\n\nYorgancioglu, A\n\nYusuf, OM\n\nAberer, W\n\nAdachi, M\n\nAgache, I\n\nAït-Khaled, N\n\nAkdis, CA\n\nAndrianarisoa, A\n\nAnnesi-Maesano, I\n\nAnsotegui, IJ\n\nBaiardini, I\n\nBateman, ED\n\nBedbrook, A\n\nBeghé, B\n\nBeji, M\n\nBel, EH\n\nBen Kheder, A\n\nBennoor, KS\n\nBergmann, KC\n\nBerrissoul, F\n\nBieber, T\n\nBindslev Jensen, C\n\nBlaiss, MS\n\nBoner, AL\n\nBouchard, J\n\nBraido, F\n\nBrightling, CE\n\nBush, A\n\nCaballero, F\n\nCalderon, MA\n\nCalvo, MA\n\nCamargos, PA\n\nCaraballo, LR\n\nCarlsen, KH\n\nCarr, W\n\nCepeda, AM\n\nCesario, A\n\nChavannes, NH\n\nChen, YZ\n\nChiriac, AM\n\nChivato Pérez, T\n\nChkhartishvili, E\n\nCiprandi, G\n\nCosta, DJ\n\nCox, L\n\nCustovic, A\n\nDahl, R\n\nDarsow, U\n\nDe Blay, F\n\nDeleanu, D\n\nDenburg, JA\n\nDevillier, P\n\nDidi, T\n\nDokic, D\n\nDolen, WK\n\nDouagui, H\n\nDubakiene, R\n\nDurham, SR\n\nDykewicz, MS\n\nEl-Gamal, Y\n\nEl-Meziane, A\n\nEmuzyte, R\n\nFiocchi, A\n\nFletcher, M\n\nFukuda, T\n\nGamkrelidze, A\n\nGereda, JE\n\nGonzález Diaz, S\n\nGotua, M\n\nGuzmán, MA\n\nHellings, PW\n\nHellquist-Dahl, B\n\nHorak, F\n\nHourihane, JO\n\nHowarth, P\n\nHumbert, M\n\nIvancevich, JC\n\nJackson, C\n\nJust, J\n\nKalayci, O\n\nKaliner, MA\n\nKalyoncu, AF\n\nKeil, T\n\nKeith, PK\n\nKhayat, G\n\nKim, YY\n\nKoffi N'goran, B\n\nKoppelman, GH\n\nKowalski, ML\n\nKull, I\n\nKvedariene, V\n\nLarenas-Linnemann, D\n\nLe, LT\n\nLemière, C\n\nLi, J\n\nLieberman, P\n\nLipworth, B\n\nMahboub, B\n\nMakela, MJ\n\nMartin, F\n\nMarshall, GD\n\nMartinez, FD\n\nMasjedi, MR\n\nMaurer, M\n\nMavale-Manuel, S\n\nMazon, A\n\nMelen, E\n\nMeltzer, EO\n\nMendez, NH\n\nMerk, H\n\nMihaltan, F\n\nMohammad, Y\n\nMorais-Almeida, M\n\nMuraro, A\n\nNafti, S\n\nNamazova-Baranova, L\n\nNekam, K\n\nNeou, A\n\nNiggemann, B\n\nNizankowska-Mogilnicka, E\n\nNyembue, TD\n\nOkamoto, Y\n\nOkubo, K\n\nOrru, MP\n\nOuedraogo, S\n\nOzdemir, C\n\nPanzner, P\n\nPali-Schöll, I\n\nPark, HS\n\nPigearias, B\n\nPohl, W\n\nPopov, TA\n\nPostma, DS\n\nPotter, P\n\nRabe, KF\n\nRatomaharo, J\n\nReitamo, S\n\nRing, J\n\nRoberts, R\n\nRogala, B\n\nRomano, A\n\nRoman Rodriguez, M\n\nRosado-Pinto, J\n\nRosenwasser, L\n\nRottem, M\n\nSanchez-Borges, M\n\nScadding, GK\n\nSchmid-Grendelmeier, P\n\nSheikh, A\n\nSisul, JC\n\nSolé, D\n\nSooronbaev, T\n\nSpicak, V\n\nSpranger, O\n\nStein, RT\n\nStoloff, SW\n\nSunyer, J\n\nSzczeklik, A\n\nTodo-Bom, A\n\nToskala, E\n\nTremblay, Y\n\nValenta, R\n\nValero, AL\n\nValeyre, D\n\nValiulis, A\n\nValovirta, E\n\nVan Cauwenberge, P\n\nVandenplas, O\n\nvan Weel, C\n\nVichyanond, P\n\nViegi, G\n\nWang, DY\n\nWickman, M\n\nWöhrl, S\n\nWright, J\n\nYawn, BP\n\nYiallouros, PK\n\nZar, HJ\n\nZernotti, ME\n\nZhong, N\n\nZidarn, M\n\nZuberbier, T\n\nWorld Health Organization Collaborating Center for Asthma and Rhinitis\n\nBeiträge in Fachzeitschriften\nISI:000310571400003\n23040884.0\n10.1016/j.jaci.2012.07.053\nNone\nAllergic rhinitis (AR) and asthma represent global health problems for all age groups. Asthma and rhinitis frequently coexist in the same subjects. Allergic Rhinitis and its Impact on Asthma (ARIA) was initiated during a World Health Organization workshop in 1999 (published in 2001). ARIA has reclassified AR as mild/moderate-severe and intermittent/persistent. This classification closely reflects patients' needs and underlines the close relationship between rhinitis and asthma. Patients, clinicians, and other health care professionals are confronted with various treatment choices for the management of AR. This contributes to considerable variation in clinical practice, and worldwide, patients, clinicians, and other health care professionals are faced with uncertainty about the relative merits and downsides of the various treatment options. In its 2010 Revision, ARIA developed clinical practice guidelines for the management of AR and asthma comorbidities based on the Grading of Recommendation, Assessment, Development and Evaluation (GRADE) system. ARIA is disseminated and implemented in more than 50 countries of the world. Ten years after the publication of the ARIA World Health Organization workshop report, it is important to make a summary of its achievements and identify the still unmet clinical, research, and implementation needs to strengthen the 2011 European Union Priority on allergy and asthma in children.\n\nAberer, Werner\n\n\n"
},
{
"text": "\n112966\nMirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.\n\nJacquemont, S\n\nReymond, A\n\nZufferey, F\n\nHarewood, L\n\nWalters, RG\n\nKutalik, Z\n\nMartinet, D\n\nShen, Y\n\nValsesia, A\n\nBeckmann, ND\n\nThorleifsson, G\n\nBelfiore, M\n\nBouquillon, S\n\nCampion, D\n\nde Leeuw, N\n\nde Vries, BB\n\nEsko, T\n\nFernandez, BA\n\nFernández-Aranda, F\n\nFernández-Real, JM\n\nGratacòs, M\n\nGuilmatre, A\n\nHoyer, J\n\nJarvelin, MR\n\nKooy, RF\n\nKurg, A\n\nLe Caignec, C\n\nMännik, K\n\nPlatt, OS\n\nSanlaville, D\n\nVan Haelst, MM\n\nVillatoro Gomez, S\n\nWalha, F\n\nWu, BL\n\nYu, Y\n\nAboura, A\n\nAddor, MC\n\nAlembik, Y\n\nAntonarakis, SE\n\nArveiler, B\n\nBarth, M\n\nBednarek, N\n\nBéna, F\n\nBergmann, S\n\nBeri, M\n\nBernardini, L\n\nBlaumeiser, B\n\nBonneau, D\n\nBottani, A\n\nBoute, O\n\nBrunner, HG\n\nCailley, D\n\nCallier, P\n\nChiesa, J\n\nChrast, J\n\nCoin, L\n\nCoutton, C\n\nCuisset, JM\n\nCuvellier, JC\n\nDavid, A\n\nde Freminville, B\n\nDelobel, B\n\nDelrue, MA\n\nDemeer, B\n\nDescamps, D\n\nDidelot, G\n\nDieterich, K\n\nDisciglio, V\n\nDoco-Fenzy, M\n\nDrunat, S\n\nDuban-Bedu, B\n\nDubourg, C\n\nEl-Sayed Moustafa, JS\n\nElliott, P\n\nFaas, BH\n\nFaivre, L\n\nFaudet, A\n\nFellmann, F\n\nFerrarini, A\n\nFisher, R\n\nFlori, E\n\nForer, L\n\nGaillard, D\n\nGerard, M\n\nGieger, C\n\nGimelli, S\n\nGimelli, G\n\nGrabe, HJ\n\nGuichet, A\n\nGuillin, O\n\nHartikainen, AL\n\nHeron, D\n\nHippolyte, L\n\nHolder, M\n\nHomuth, G\n\nIsidor, B\n\nJaillard, S\n\nJaros, Z\n\nJiménez-Murcia, S\n\nHelas, GJ\n\nJonveaux, P\n\nKaksonen, S\n\nKeren, B\n\nKloss-Brandstätter, A\n\nKnoers, NV\n\nKoolen, DA\n\nKroisel, PM\n\nKronenberg, F\n\nLabalme, A\n\nLandais, E\n\nLapi, E\n\nLayet, V\n\nLegallic, S\n\nLeheup, B\n\nLeube, B\n\nLewis, S\n\nLucas, J\n\nMacDermot, KD\n\nMagnusson, P\n\nMarshall, C\n\nMathieu-Dramard, M\n\nMcCarthy, MI\n\nMeitinger, T\n\nMencarelli, MA\n\nMerla, G\n\nMoerman, A\n\nMooser, V\n\nMorice-Picard, F\n\nMucciolo, M\n\nNauck, M\n\nNdiaye, NC\n\nNordgren, A\n\nPasquier, L\n\nPetit, F\n\nPfundt, R\n\nPlessis, G\n\nRajcan-Separovic, E\n\nRamelli, GP\n\nRauch, A\n\nRavazzolo, R\n\nReis, A\n\nRenieri, A\n\nRichart, C\n\nRied, JS\n\nRieubland, C\n\nRoberts, W\n\nRoetzer, KM\n\nRooryck, C\n\nRossi, M\n\nSaemundsen, E\n\nSatre, V\n\nSchurmann, C\n\nSigurdsson, E\n\nStavropoulos, DJ\n\nStefansson, H\n\nTengström, C\n\nThorsteinsdóttir, U\n\nTinahones, FJ\n\nTouraine, R\n\nVallée, L\n\nvan Binsbergen, E\n\nVan der Aa, N\n\nVincent-Delorme, C\n\nVisvikis-Siest, S\n\nVollenweider, P\n\nVölzke, H\n\nVulto-van Silfhout, AT\n\nWaeber, G\n\nWallgren-Pettersson, C\n\nWitwicki, RM\n\nZwolinksi, S\n\nAndrieux, J\n\nEstivill, X\n\nGusella, JF\n\nGustafsson, O\n\nMetspalu, A\n\nScherer, SW\n\nStefansson, K\n\nBlakemore, AI\n\nBeckmann, JS\n\nFroguel, P\n\nBeiträge in Fachzeitschriften\nISI:000295575400042\n21881559.0\n10.1038/nature10406\nPMC3637175\nBoth obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.\n\nKroisel, Peter\n\n\n"
},
{
"text": "\n161461\nNovel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.\n\nWain, LV\n\nVaez, A\n\nJansen, R\n\nJoehanes, R\n\nvan der Most, PJ\n\nErzurumluoglu, AM\n\nO'Reilly, PF\n\nCabrera, CP\n\nWarren, HR\n\nRose, LM\n\nVerwoert, GC\n\nHottenga, JJ\n\nStrawbridge, RJ\n\nEsko, T\n\nArking, DE\n\nHwang, SJ\n\nGuo, X\n\nKutalik, Z\n\nTrompet, S\n\nShrine, N\n\nTeumer, A\n\nRied, JS\n\nBis, JC\n\nSmith, AV\n\nAmin, N\n\nNolte, IM\n\nLyytikäinen, LP\n\nMahajan, A\n\nWareham, NJ\n\nHofer, E\n\nJoshi, PK\n\nKristiansson, K\n\nTraglia, M\n\nHavulinna, AS\n\nGoel, A\n\nNalls, MA\n\nSõber, S\n\nVuckovic, D\n\nLuan, J\n\nDel Greco M, F\n\nAyers, KL\n\nMarrugat, J\n\nRuggiero, D\n\nLopez, LM\n\nNiiranen, T\n\nEnroth, S\n\nJackson, AU\n\nNelson, CP\n\nHuffman, JE\n\nZhang, W\n\nMarten, J\n\nGandin, I\n\nHarris, SE\n\nZemunik, T\n\nLu, Y\n\nEvangelou, E\n\nShah, N\n\nde Borst, MH\n\nMangino, M\n\nPrins, BP\n\nCampbell, A\n\nLi-Gao, R\n\nChauhan, G\n\nOldmeadow, C\n\nAbecasis, G\n\nAbedi, M\n\nBarbieri, CM\n\nBarnes, MR\n\nBatini, C\n\nBeilby, J\n\nBlake, T\n\nBoehnke, M\n\nBottinger, EP\n\nBraund, PS\n\nBrown, M\n\nBrumat, M\n\nCampbell, H\n\nChambers, JC\n\nCocca, M\n\nCollins, F\n\nConnell, J\n\nCordell, HJ\n\nDamman, JJ\n\nDavies, G\n\nde Geus, EJ\n\nde Mutsert, R\n\nDeelen, J\n\nDemirkale, Y\n\nDoney, ASF\n\nDörr, M\n\nFarrall, M\n\nFerreira, T\n\nFrånberg, M\n\nGao, H\n\nGiedraitis, V\n\nGieger, C\n\nGiulianini, F\n\nGow, AJ\n\nHamsten, A\n\nHarris, TB\n\nHofman, A\n\nHolliday, EG\n\nHui, J\n\nJarvelin, MR\n\nJohansson, Å\n\nJohnson, AD\n\nJousilahti, P\n\nJula, A\n\nKähönen, M\n\nKathiresan, S\n\nKhaw, KT\n\nKolcic, I\n\nKoskinen, S\n\nLangenberg, C\n\nLarson, M\n\nLauner, LJ\n\nLehne, B\n\nLiewald, DCM\n\nLin, L\n\nLind, L\n\nMach, F\n\nMamasoula, C\n\nMenni, C\n\nMifsud, B\n\nMilaneschi, Y\n\nMorgan, A\n\nMorris, AD\n\nMorrison, AC\n\nMunson, PJ\n\nNandakumar, P\n\nNguyen, QT\n\nNutile, T\n\nOldehinkel, AJ\n\nOostra, BA\n\nOrg, E\n\nPadmanabhan, S\n\nPalotie, A\n\nParé, G\n\nPattie, A\n\nPenninx, BWJH\n\nPoulter, N\n\nPramstaller, PP\n\nRaitakari, OT\n\nRen, M\n\nRice, K\n\nRidker, PM\n\nRiese, H\n\nRipatti, S\n\nRobino, A\n\nRotter, JI\n\nRudan, I\n\nSaba, Y\n\nSaint Pierre, A\n\nSala, CF\n\nSarin, AP\n\nSchmidt, R\n\nScott, R\n\nSeelen, MA\n\nShields, DC\n\nSiscovick, D\n\nSorice, R\n\nStanton, A\n\nStott, DJ\n\nSundström, J\n\nSwertz, M\n\nTaylor, KD\n\nThom, S\n\nTzoulaki, I\n\nTzourio, C\n\nUitterlinden, AG\n\nVölker, U\n\nVollenweider, P\n\nWild, S\n\nWillemsen, G\n\nWright, AF\n\nYao, J\n\nThériault, S\n\nConen, D\n\nAttia, J\n\nSever, P\n\nDebette, S\n\nMook-Kanamori, DO\n\nZeggini, E\n\nSpector, TD\n\nvan der Harst, P\n\nPalmer, CNA\n\nVergnaud, AC\n\nLoos, RJF\n\nPolasek, O\n\nStarr, JM\n\nGirotto, G\n\nHayward, C\n\nKooner, JS\n\nLindgren, CM\n\nVitart, V\n\nSamani, NJ\n\nTuomilehto, J\n\nGyllensten, U\n\nKnekt, P\n\nDeary, IJ\n\nCiullo, M\n\nElosua, R\n\nKeavney, BD\n\nHicks, AA\n\nScott, RA\n\nGasparini, P\n\nLaan, M\n\nLiu, Y\n\nWatkins, H\n\nHartman, CA\n\nSalomaa, V\n\nToniolo, D\n\nPerola, M\n\nWilson, JF\n\nSchmidt, H\n\nZhao, JH\n\nLehtimäki, T\n\nvan Duijn, CM\n\nGudnason, V\n\nPsaty, BM\n\nPeters, A\n\nRettig, R\n\nJames, A\n\nJukema, JW\n\nStrachan, DP\n\nPalmas, W\n\nMetspalu, A\n\nIngelsson, E\n\nBoomsma, DI\n\nFranco, OH\n\nBochud, M\n\nNewton-Cheh, C\n\nMunroe, PB\n\nElliott, P\n\nChasman, DI\n\nChakravarti, A\n\nKnight, J\n\nMorris, AP\n\nLevy, D\n\nTobin, MD\n\nSnieder, H\n\nCaulfield, MJ\n\nEhret, GB\n\nBeiträge in Fachzeitschriften\nISI:000407241500001\n28739976.0\n10.1161/HYPERTENSIONAHA.117.09438\nPMC5783787\nElevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7, TNXB, LRP12, LOC283335, SEPT9, and AKT2, and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.\n © 2017 American Heart Association, Inc.\n\nHofer, Edith\n\nSABA, Yasaman\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
},
{
"text": "\n169248\nGenetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.\n\nEvangelou, E\n\nWarren, HR\n\nMosen-Ansorena, D\n\nMifsud, B\n\nPazoki, R\n\nGao, H\n\nNtritsos, G\n\nDimou, N\n\nCabrera, CP\n\nKaraman, I\n\nNg, FL\n\nEvangelou, M\n\nWitkowska, K\n\nTzanis, E\n\nHellwege, JN\n\nGiri, A\n\nVelez Edwards, DR\n\nSun, YV\n\nCho, K\n\nGaziano, JM\n\nWilson, PWF\n\nTsao, PS\n\nKovesdy, CP\n\nEsko, T\n\nMägi, R\n\nMilani, L\n\nAlmgren, P\n\nBoutin, T\n\nDebette, S\n\nDing, J\n\nGiulianini, F\n\nHolliday, EG\n\nJackson, AU\n\nLi-Gao, R\n\nLin, WY\n\nLuan, J\n\nMangino, M\n\nOldmeadow, C\n\nPrins, BP\n\nQian, Y\n\nSargurupremraj, M\n\nShah, N\n\nSurendran, P\n\nThériault, S\n\nVerweij, N\n\nWillems, SM\n\nZhao, JH\n\nAmouyel, P\n\nConnell, J\n\nde Mutsert, R\n\nDoney, ASF\n\nFarrall, M\n\nMenni, C\n\nMorris, AD\n\nNoordam, R\n\nParé, G\n\nPoulter, NR\n\nShields, DC\n\nStanton, A\n\nThom, S\n\nAbecasis, G\n\nAmin, N\n\nArking, DE\n\nAyers, KL\n\nBarbieri, CM\n\nBatini, C\n\nBis, JC\n\nBlake, T\n\nBochud, M\n\nBoehnke, M\n\nBoerwinkle, E\n\nBoomsma, DI\n\nBottinger, EP\n\nBraund, PS\n\nBrumat, M\n\nCampbell, A\n\nCampbell, H\n\nChakravarti, A\n\nChambers, JC\n\nChauhan, G\n\nCiullo, M\n\nCocca, M\n\nCollins, F\n\nCordell, HJ\n\nDavies, G\n\nBorst, MH\n\nGeus, EJ\n\nDeary, IJ\n\nDeelen, J\n\nDel Greco M, F\n\nDemirkale, CY\n\nDörr, M\n\nEhret, GB\n\nElosua, R\n\nEnroth, S\n\nErzurumluoglu, AM\n\nFerreira, T\n\nFrånberg, M\n\nFranco, OH\n\nGandin, I\n\nGasparini, P\n\nGiedraitis, V\n\nGieger, C\n\nGirotto, G\n\nGoel, A\n\nGow, AJ\n\nGudnason, V\n\nGuo, X\n\nGyllensten, U\n\nHamsten, A\n\nHarris, TB\n\nHarris, SE\n\nHartman, CA\n\nHavulinna, AS\n\nHicks, AA\n\nHofer, E\n\nHofman, A\n\nHottenga, JJ\n\nHuffman, JE\n\nHwang, SJ\n\nIngelsson, E\n\nJames, A\n\nJansen, R\n\nJarvelin, MR\n\nJoehanes, R\n\nJohansson, Å\n\nJohnson, AD\n\nJoshi, PK\n\nJousilahti, P\n\nJukema, JW\n\nJula, A\n\nKähönen, M\n\nKathiresan, S\n\nKeavney, BD\n\nKhaw, KT\n\nKnekt, P\n\nKnight, J\n\nKolcic, I\n\nKooner, JS\n\nKoskinen, S\n\nKristiansson, K\n\nKutalik, Z\n\nLaan, M\n\nLarson, M\n\nLauner, LJ\n\nLehne, B\n\nLehtimäki, T\n\nLiewald, DCM\n\nLin, L\n\nLind, L\n\nLindgren, CM\n\nLiu, Y\n\nLoos, RJF\n\nLopez, LM\n\nLu, Y\n\nLyytikäinen, LP\n\nMahajan, A\n\nMamasoula, C\n\nMarrugat, J\n\nMarten, J\n\nMilaneschi, Y\n\nMorgan, A\n\nMorris, AP\n\nMorrison, AC\n\nMunson, PJ\n\nNalls, MA\n\nNandakumar, P\n\nNelson, CP\n\nNiiranen, T\n\nNolte, IM\n\nNutile, T\n\nOldehinkel, AJ\n\nOostra, BA\n\nO'Reilly, PF\n\nOrg, E\n\nPadmanabhan, S\n\nPalmas, W\n\nPalotie, A\n\nPattie, A\n\nPenninx, BWJH\n\nPerola, M\n\nPeters, A\n\nPolasek, O\n\nPramstaller, PP\n\nNguyen, QT\n\nRaitakari, OT\n\nRen, M\n\nRettig, R\n\nRice, K\n\nRidker, PM\n\nRied, JS\n\nRiese, H\n\nRipatti, S\n\nRobino, A\n\nRose, LM\n\nRotter, JI\n\nRudan, I\n\nRuggiero, D\n\nSaba, Y\n\nSala, CF\n\nSalomaa, V\n\nSamani, NJ\n\nSarin, AP\n\nSchmidt, R\n\nSchmidt, H\n\nShrine, N\n\nSiscovick, D\n\nSmith, AV\n\nSnieder, H\n\nSõber, S\n\nSorice, R\n\nStarr, JM\n\nStott, DJ\n\nStrachan, DP\n\nStrawbridge, RJ\n\nSundström, J\n\nSwertz, MA\n\nTaylor, KD\n\nTeumer, A\n\nTobin, MD\n\nTomaszewski, M\n\nToniolo, D\n\nTraglia, M\n\nTrompet, S\n\nTuomilehto, J\n\nTzourio, C\n\nUitterlinden, AG\n\nVaez, A\n\nvan der Most, PJ\n\nvan Duijn, CM\n\nVergnaud, AC\n\nVerwoert, GC\n\nVitart, V\n\nVölker, U\n\nVollenweider, P\n\nVuckovic, D\n\nWatkins, H\n\nWild, SH\n\nWillemsen, G\n\nWilson, JF\n\nWright, AF\n\nYao, J\n\nZemunik, T\n\nZhang, W\n\nAttia, JR\n\nButterworth, AS\n\nChasman, DI\n\nConen, D\n\nCucca, F\n\nDanesh, J\n\nHayward, C\n\nHowson, JMM\n\nLaakso, M\n\nLakatta, EG\n\nLangenberg, C\n\nMelander, O\n\nMook-Kanamori, DO\n\nPalmer, CNA\n\nRisch, L\n\nScott, RA\n\nScott, RJ\n\nSever, P\n\nSpector, TD\n\nvan der Harst, P\n\nWareham, NJ\n\nZeggini, E\n\nLevy, D\n\nMunroe, PB\n\nNewton-Cheh, C\n\nBrown, MJ\n\nMetspalu, A\n\nHung, AM\n\nO'Donnell, CJ\n\nEdwards, TL\n\nMillion Veteran Program\n\nPsaty, BM\n\nTzoulaki, I\n\nBarnes, MR\n\nWain, LV\n\nElliott, P\n\nCaulfield, MJ\n\nBeiträge in Fachzeitschriften\nISI:000446047000013\n30224653.0\n10.1038/s41588-018-0205-x\nPMC6284793\nHigh blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.\n\nHofer, Edith\n\nSABA, Yasaman\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
},
{
"text": "\n131214\nDiscovery and refinement of loci associated with lipid levels.\n\nGlobal Lipids Genetics Consortium\n\nWiller, CJ\n\nSchmidt, EM\n\nSengupta, S\n\nPeloso, GM\n\nGustafsson, S\n\nKanoni, S\n\nGanna, A\n\nChen, J\n\nBuchkovich, ML\n\nMora, S\n\nBeckmann, JS\n\nBragg-Gresham, JL\n\nChang, HY\n\nDemirkan, A\n\nDen Hertog, HM\n\nDo, R\n\nDonnelly, LA\n\nEhret, GB\n\nEsko, T\n\nFeitosa, MF\n\nFerreira, T\n\nFischer, K\n\nFontanillas, P\n\nFraser, RM\n\nFreitag, DF\n\nGurdasani, D\n\nHeikkilä, K\n\nHyppönen, E\n\nIsaacs, A\n\nJackson, AU\n\nJohansson, A\n\nJohnson, T\n\nKaakinen, M\n\nKettunen, J\n\nKleber, ME\n\nLi, X\n\nLuan, J\n\nLyytikäinen, LP\n\nMagnusson, PK\n\nMangino, M\n\nMihailov, E\n\nMontasser, ME\n\nMüller-Nurasyid, M\n\nNolte, IM\n\nO'Connell, JR\n\nPalmer, CD\n\nPerola, M\n\nPetersen, AK\n\nSanna, S\n\nSaxena, R\n\nService, SK\n\nShah, S\n\nShungin, D\n\nSidore, C\n\nSong, C\n\nStrawbridge, RJ\n\nSurakka, I\n\nTanaka, T\n\nTeslovich, TM\n\nThorleifsson, G\n\nVan den Herik, EG\n\nVoight, BF\n\nVolcik, KA\n\nWaite, LL\n\nWong, A\n\nWu, Y\n\nZhang, W\n\nAbsher, D\n\nAsiki, G\n\nBarroso, I\n\nBeen, LF\n\nBolton, JL\n\nBonnycastle, LL\n\nBrambilla, P\n\nBurnett, MS\n\nCesana, G\n\nDimitriou, M\n\nDoney, AS\n\nDöring, A\n\nElliott, P\n\nEpstein, SE\n\nEyjolfsson, GI\n\nGigante, B\n\nGoodarzi, MO\n\nGrallert, H\n\nGravito, ML\n\nGroves, CJ\n\nHallmans, G\n\nHartikainen, AL\n\nHayward, C\n\nHernandez, D\n\nHicks, AA\n\nHolm, H\n\nHung, YJ\n\nIllig, T\n\nJones, MR\n\nKaleebu, P\n\nKastelein, JJ\n\nKhaw, KT\n\nKim, E\n\nKlopp, N\n\nKomulainen, P\n\nKumari, M\n\nLangenberg, C\n\nLehtimäki, T\n\nLin, SY\n\nLindström, J\n\nLoos, RJ\n\nMach, F\n\nMcArdle, WL\n\nMeisinger, C\n\nMitchell, BD\n\nMüller, G\n\nNagaraja, R\n\nNarisu, N\n\nNieminen, TV\n\nNsubuga, RN\n\nOlafsson, I\n\nOng, KK\n\nPalotie, A\n\nPapamarkou, T\n\nPomilla, C\n\nPouta, A\n\nRader, DJ\n\nReilly, MP\n\nRidker, PM\n\nRivadeneira, F\n\nRudan, I\n\nRuokonen, A\n\nSamani, N\n\nScharnagl, H\n\nSeeley, J\n\nSilander, K\n\nStancáková, A\n\nStirrups, K\n\nSwift, AJ\n\nTiret, L\n\nUitterlinden, AG\n\nvan Pelt, LJ\n\nVedantam, S\n\nWainwright, N\n\nWijmenga, C\n\nWild, SH\n\nWillemsen, G\n\nWilsgaard, T\n\nWilson, JF\n\nYoung, EH\n\nZhao, JH\n\nAdair, LS\n\nArveiler, D\n\nAssimes, TL\n\nBandinelli, S\n\nBennett, F\n\nBochud, M\n\nBoehm, BO\n\nBoomsma, DI\n\nBorecki, IB\n\nBornstein, SR\n\nBovet, P\n\nBurnier, M\n\nCampbell, H\n\nChakravarti, A\n\nChambers, JC\n\nChen, YD\n\nCollins, FS\n\nCooper, RS\n\nDanesh, J\n\nDedoussis, G\n\nde Faire, U\n\nFeranil, AB\n\nFerrières, J\n\nFerrucci, L\n\nFreimer, NB\n\nGieger, C\n\nGroop, LC\n\nGudnason, V\n\nGyllensten, U\n\nHamsten, A\n\nHarris, TB\n\nHingorani, A\n\nHirschhorn, JN\n\nHofman, A\n\nHovingh, GK\n\nHsiung, CA\n\nHumphries, SE\n\nHunt, SC\n\nHveem, K\n\nIribarren, C\n\nJärvelin, MR\n\nJula, A\n\nKähönen, M\n\nKaprio, J\n\nKesäniemi, A\n\nKivimaki, M\n\nKooner, JS\n\nKoudstaal, PJ\n\nKrauss, RM\n\nKuh, D\n\nKuusisto, J\n\nKyvik, KO\n\nLaakso, M\n\nLakka, TA\n\nLind, L\n\nLindgren, CM\n\nMartin, NG\n\nMärz, W\n\nMcCarthy, MI\n\nMcKenzie, CA\n\nMeneton, P\n\nMetspalu, A\n\nMoilanen, L\n\nMorris, AD\n\nMunroe, PB\n\nNjølstad, I\n\nPedersen, NL\n\nPower, C\n\nPramstaller, PP\n\nPrice, JF\n\nPsaty, BM\n\nQuertermous, T\n\nRauramaa, R\n\nSaleheen, D\n\nSalomaa, V\n\nSanghera, DK\n\nSaramies, J\n\nSchwarz, PE\n\nSheu, WH\n\nShuldiner, AR\n\nSiegbahn, A\n\nSpector, TD\n\nStefansson, K\n\nStrachan, DP\n\nTayo, BO\n\nTremoli, E\n\nTuomilehto, J\n\nUusitupa, M\n\nvan Duijn, CM\n\nVollenweider, P\n\nWallentin, L\n\nWareham, NJ\n\nWhitfield, JB\n\nWolffenbuttel, BH\n\nOrdovas, JM\n\nBoerwinkle, E\n\nPalmer, CN\n\nThorsteinsdottir, U\n\nChasman, DI\n\nRotter, JI\n\nFranks, PW\n\nRipatti, S\n\nCupples, LA\n\nSandhu, MS\n\nRich, SS\n\nBoehnke, M\n\nDeloukas, P\n\nKathiresan, S\n\nMohlke, KL\n\nIngelsson, E\n\nAbecasis, GR\n\nBeiträge in Fachzeitschriften\nISI:000326384100007\n24097068.0\n10.1038/ng.2797\nPMC3838666\nLevels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188, 77 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 × 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.\n\nMärz, Winfried\n\nScharnagl, Hubert\n\n\n"
},
{
"text": "\n184097\nClinicogenomic factors of biotherapy immunogenicity in autoimmune disease: A prospective multicohort study of the ABIRISK consortium.\n\nHässler, S\n\nBachelet, D\n\nDuhaze, J\n\nSzely, N\n\nGleizes, A\n\nHacein-Bey Abina, S\n\nAktas, O\n\nAuer, M\n\nAvouac, J\n\nBirchler, M\n\nBouhnik, Y\n\nBrocq, O\n\nBuck-Martin, D\n\nCadiot, G\n\nCarbonnel, F\n\nChowers, Y\n\nComabella, M\n\nDerfuss, T\n\nDe Vries, N\n\nDonnellan, N\n\nDoukani, A\n\nGuger, M\n\nHartung, HP\n\nKubala Havrdova, E\n\nHemmer, B\n\nHuizinga, T\n\nIngenhoven, K\n\nHyldgaard-Jensen, PE\n\nJury, EC\n\nKhalil, M\n\nKieseier, B\n\nLaurén, A\n\nLindberg, R\n\nLoercher, A\n\nMaggi, E\n\nManson, J\n\nMauri, C\n\nMohand Oumoussa, B\n\nMontalban, X\n\nNachury, M\n\nNytrova, P\n\nRichez, C\n\nRyner, M\n\nSellebjerg, F\n\nSievers, C\n\nSikkema, D\n\nSoubrier, M\n\nTourdot, S\n\nTrang, C\n\nVultaggio, A\n\nWarnke, C\n\nSpindeldreher, S\n\nDönnes, P\n\nHickling, TP\n\nHincelin Mery, A\n\nAllez, M\n\nDeisenhammer, F\n\nFogdell-Hahn, A\n\nMariette, X\n\nPallardy, M\n\nBroët, P\n\nABIRISK consortium\n\nBeiträge in Fachzeitschriften\nISI:000588360400002\n33125391.0\n10.1371/journal.pmed.1003348\nPMC7598520\nBiopharmaceutical products (BPs) are widely used to treat autoimmune diseases, but immunogenicity limits their efficacy for an important proportion of patients. Our knowledge of patient-related factors influencing the occurrence of antidrug antibodies (ADAs) is still limited.\n The European consortium ABIRISK (Anti-Biopharmaceutical Immunization: prediction and analysis of clinical relevance to minimize the RISK) conducted a clinical and genomic multicohort prospective study of 560 patients with multiple sclerosis (MS, n = 147), rheumatoid arthritis (RA, n = 229), Crohn's disease (n = 148), or ulcerative colitis (n = 36) treated with 8 different biopharmaceuticals (etanercept, n = 84; infliximab, n = 101; adalimumab, n = 153; interferon [IFN]-beta-1a intramuscularly [IM], n = 38; IFN-beta-1a subcutaneously [SC], n = 68; IFN-beta-1b SC, n = 41; rituximab, n = 31; tocilizumab, n = 44) and followed during the first 12 months of therapy for time to ADA development. From the bioclinical data collected, we explored the relationships between patient-related factors and the occurrence of ADAs. Both baseline and time-dependent factors such as concomitant medications were analyzed using Cox proportional hazard regression models. Mean age and disease duration were 35.1 and 0.85 years, respectively, for MS; 54.2 and 3.17 years for RA; and 36.9 and 3.69 years for inflammatory bowel diseases (IBDs). In a multivariate Cox regression model including each of the clinical and genetic factors mentioned hereafter, among the clinical factors, immunosuppressants (adjusted hazard ratio [aHR] = 0.408 [95% confidence interval (CI) 0.253-0.657], p < 0.001) and antibiotics (aHR = 0.121 [0.0437-0.333], p < 0.0001) were independently negatively associated with time to ADA development, whereas infections during the study (aHR = 2.757 [1.616-4.704], p < 0.001) and tobacco smoking (aHR = 2.150 [1.319-3.503], p < 0.01) were positively associated. 351, 24 Single-Nucleotide Polymorphisms (SNPs) and 38 imputed Human Leukocyte Antigen (HLA) alleles were analyzed through a genome-wide association study. We found that the HLA-DQA1*05 allele significantly increased the rate of immunogenicity (aHR = 3.9 [1.923-5.976], p < 0.0001 for the homozygotes). Among the 6 genetic variants selected at a 20% false discovery rate (FDR) threshold, the minor allele of rs10508884, which is situated in an intron of the CXCL12 gene, increased the rate of immunogenicity (aHR = 3.804 [2.139-6.764], p < 1 × 10-5 for patients homozygous for the minor allele) and was chosen for validation through a CXCL12 protein enzyme-linked immunosorbent assay (ELISA) on patient serum at baseline before therapy start. CXCL12 protein levels were higher for patients homozygous for the minor allele carrying higher ADA risk (mean: 2, 93 pg/ml) than for the other genotypes (mean: 2, 17 pg/ml; p = 0.014), and patients with CXCL12 levels above the median in serum were more prone to develop ADAs (aHR = 2.329 [1.106-4.90], p = 0.026). A limitation of the study is the lack of replication; therefore, other studies are required to confirm our findings.\n In our study, we found that immunosuppressants and antibiotics were associated with decreased risk of ADA development, whereas tobacco smoking and infections during the study were associated with increased risk. We found that the HLA-DQA1*05 allele was associated with an increased rate of immunogenicity. Moreover, our results suggest a relationship between CXCL12 production and ADA development independent of the disease, which is consistent with its known function in affinity maturation of antibodies and plasma cell survival. Our findings may help physicians in the management of patients receiving biotherapies.\n\nKhalil, Michael\n\n\n"
},
{
"text": "\n180024\nEAU-ESMO Consensus Statements on the Management of Advanced and Variant Bladder Cancer-An International Collaborative Multistakeholder Effort<sup>†</sup>: Under the Auspices of the EAU-ESMO Guidelines Committees.\n\nWitjes, JA\n\nBabjuk, M\n\nBellmunt, J\n\nBruins, HM\n\nDe Reijke, TM\n\nDe Santis, M\n\nGillessen, S\n\nJames, N\n\nMaclennan, S\n\nPalou, J\n\nPowles, T\n\nRibal, MJ\n\nShariat, SF\n\nDer Kwast, TV\n\nXylinas, E\n\nAgarwal, N\n\nArends, T\n\nBamias, A\n\nBirtle, A\n\nBlack, PC\n\nBochner, BH\n\nBolla, M\n\nBoormans, JL\n\nBossi, A\n\nBriganti, A\n\nBrummelhuis, I\n\nBurger, M\n\nCastellano, D\n\nCathomas, R\n\nChiti, A\n\nChoudhury, A\n\nCompérat, E\n\nCrabb, S\n\nCuline, S\n\nDe Bari, B\n\nDe Blok, W\n\nJ L De Visschere, P\n\nDecaestecker, K\n\nDimitropoulos, K\n\nDominguez-Escrig, JL\n\nFanti, S\n\nFonteyne, V\n\nFrydenberg, M\n\nFutterer, JJ\n\nGakis, G\n\nGeavlete, B\n\nGontero, P\n\nGrubmüller, B\n\nHafeez, S\n\nHansel, DE\n\nHartmann, A\n\nHayne, D\n\nHenry, AM\n\nHernandez, V\n\nHerr, H\n\nHerrmann, K\n\nHoskin, P\n\nHuguet, J\n\nJereczek-Fossa, BA\n\nJones, R\n\nKamat, AM\n\nKhoo, V\n\nKiltie, AE\n\nKrege, S\n\nLadoire, S\n\nLara, PC\n\nLeliveld, A\n\nLinares-Espinós, E\n\nLøgager, V\n\nLorch, A\n\nLoriot, Y\n\nMeijer, R\n\nMir, MC\n\nMoschini, M\n\nMostafid, H\n\nMüller, AC\n\nMüller, CR\n\nN'Dow, J\n\nNecchi, A\n\nNeuzillet, Y\n\nOddens, JR\n\nOldenburg, J\n\nOsanto, S\n\nJ G Oyen, W\n\nPacheco-Figueiredo, L\n\nPappot, H\n\nPatel, MI\n\nPieters, BR\n\nPlass, K\n\nRemzi, M\n\nRetz, M\n\nRichenberg, J\n\nRink, M\n\nRoghmann, F\n\nRosenberg, JE\n\nRouprêt, M\n\nRouvière, O\n\nSalembier, C\n\nSalminen, A\n\nSargos, P\n\nSengupta, S\n\nSherif, A\n\nSmeenk, RJ\n\nSmits, A\n\nStenzl, A\n\nThalmann, GN\n\nTombal, B\n\nTurkbey, B\n\nLauridsen, SV\n\nValdagni, R\n\nVan Der Heijden, AG\n\nVan Poppel, H\n\nVartolomei, MD\n\nVeskimäe, E\n\nVilaseca, A\n\nRivera, FAV\n\nWiegel, T\n\nWiklund, P\n\nWilliams, A\n\nZigeuner, R\n\nHorwich, A\n\nBeiträge in Fachzeitschriften\nISI:000507362200017\n31753752.0\n10.1016/j.eururo.2019.09.035\nNone\nAlthough guidelines exist for advanced and variant bladder cancer management, evidence is limited/conflicting in some areas and the optimal approach remains controversial.\n To bring together a large multidisciplinary group of experts to develop consensus statements on controversial topics in bladder cancer management.\n A steering committee compiled proposed statements regarding advanced and variant bladder cancer management which were assessed by 113 experts in a Delphi survey. Statements not reaching consensus were reviewed; those prioritised were revised by a panel of 45 experts prior to voting during a consensus conference.\n Online Delphi survey and consensus conference.\n The European Association of Urology (EAU), the European Society for Medical Oncology (ESMO), experts in bladder cancer management.\n Statements were ranked by experts according to their level of agreement: 1-3 (disagree), 4-6 (equivocal), and 7-9 (agree). A priori (level 1) consensus was defined as ≥70% agreement and ≤15% disagreement, or vice versa. In the Delphi survey, a second analysis was restricted to stakeholder group(s) considered to have adequate expertise relating to each statement (to achieve level 2 consensus).\n Overall, 116 statements were included in the Delphi survey. Of these statements, 33 (28%) achieved level 1 consensus and 49 (42%) achieved level 1 or 2 consensus. At the consensus conference, 22 of 27 (81%) statements achieved consensus. These consensus statements provide further guidance across a broad range of topics, including the management of variant histologies, the role/limitations of prognostic biomarkers in clinical decision making, bladder preservation strategies, modern radiotherapy techniques, the management of oligometastatic disease, and the evolving role of checkpoint inhibitor therapy in metastatic disease.\n These consensus statements provide further guidance on controversial topics in advanced and variant bladder cancer management until a time when further evidence is available to guide our approach.\n This report summarises findings from an international, multistakeholder project organised by the EAU and ESMO. In this project, a steering committee identified areas of bladder cancer management where there is currently no good-quality evidence to guide treatment decisions. From this, they developed a series of proposed statements, 71 of which achieved consensus by a large group of experts in the field of bladder cancer. It is anticipated that these statements will provide further guidance to health care professionals and could help improve patient outcomes until a time when good-quality evidence is available.\n Copyright © 2019 European Society of Medical Oncology and European Association of Urology. Published by Elsevier B.V. All rights reserved.\n\nZigeuner, Richard\n\n\n"
},
{
"text": "\n150923\nGenetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.\n\nPattaro, C\n\nTeumer, A\n\nGorski, M\n\nChu, AY\n\nLi, M\n\nMijatovic, V\n\nGarnaas, M\n\nTin, A\n\nSorice, R\n\nLi, Y\n\nTaliun, D\n\nOlden, M\n\nFoster, M\n\nYang, Q\n\nChen, MH\n\nPers, TH\n\nJohnson, AD\n\nKo, YA\n\nFuchsberger, C\n\nTayo, B\n\nNalls, M\n\nFeitosa, MF\n\nIsaacs, A\n\nDehghan, A\n\nd'Adamo, P\n\nAdeyemo, A\n\nDieffenbach, AK\n\nZonderman, AB\n\nNolte, IM\n\nvan der Most, PJ\n\nWright, AF\n\nShuldiner, AR\n\nMorrison, AC\n\nHofman, A\n\nSmith, AV\n\nDreisbach, AW\n\nFranke, A\n\nUitterlinden, AG\n\nMetspalu, A\n\nTonjes, A\n\nLupo, A\n\nRobino, A\n\nJohansson, Å\n\nDemirkan, A\n\nKollerits, B\n\nFreedman, BI\n\nPonte, B\n\nOostra, BA\n\nPaulweber, B\n\nKrämer, BK\n\nMitchell, BD\n\nBuckley, BM\n\nPeralta, CA\n\nHayward, C\n\nHelmer, C\n\nRotimi, CN\n\nShaffer, CM\n\nMüller, C\n\nSala, C\n\nvan Duijn, CM\n\nSaint-Pierre, A\n\nAckermann, D\n\nShriner, D\n\nRuggiero, D\n\nToniolo, D\n\nLu, Y\n\nCusi, D\n\nCzamara, D\n\nEllinghaus, D\n\nSiscovick, DS\n\nRuderfer, D\n\nGieger, C\n\nGrallert, H\n\nRochtchina, E\n\nAtkinson, EJ\n\nHolliday, EG\n\nBoerwinkle, E\n\nSalvi, E\n\nBottinger, EP\n\nMurgia, F\n\nRivadeneira, F\n\nErnst, F\n\nKronenberg, F\n\nHu, FB\n\nNavis, GJ\n\nCurhan, GC\n\nEhret, GB\n\nHomuth, G\n\nCoassin, S\n\nThun, GA\n\nPistis, G\n\nGambaro, G\n\nMalerba, G\n\nMontgomery, GW\n\nEiriksdottir, G\n\nJacobs, G\n\nLi, G\n\nWichmann, HE\n\nCampbell, H\n\nSchmidt, H\n\nWallaschofski, H\n\nVölzke, H\n\nBrenner, H\n\nKroemer, HK\n\nKramer, H\n\nLin, H\n\nLeach, IM\n\nFord, I\n\nGuessous, I\n\nRudan, I\n\nProkopenko, I\n\nBorecki, I\n\nHeid, IM\n\nKolcic, I\n\nPersico, I\n\nJukema, JW\n\nWilson, JF\n\nFelix, JF\n\nDivers, J\n\nLambert, JC\n\nStafford, JM\n\nGaspoz, JM\n\nSmith, JA\n\nFaul, JD\n\nWang, JJ\n\nDing, J\n\nHirschhorn, JN\n\nAttia, J\n\nWhitfield, JB\n\nChalmers, J\n\nViikari, J\n\nCoresh, J\n\nDenny, JC\n\nKarjalainen, J\n\nFernandes, JK\n\nEndlich, K\n\nButterbach, K\n\nKeene, KL\n\nLohman, K\n\nPortas, L\n\nLauner, LJ\n\nLyytikäinen, LP\n\nYengo, L\n\nFranke, L\n\nFerrucci, L\n\nRose, LM\n\nKedenko, L\n\nRao, M\n\nStruchalin, M\n\nKleber, ME\n\nCavalieri, M\n\nHaun, M\n\nCornelis, MC\n\nCiullo, M\n\nPirastu, M\n\nde Andrade, M\n\nMcEvoy, MA\n\nWoodward, M\n\nAdam, M\n\nCocca, M\n\nNauck, M\n\nImboden, M\n\nWaldenberger, M\n\nPruijm, M\n\nMetzger, M\n\nStumvoll, M\n\nEvans, MK\n\nSale, MM\n\nKähönen, M\n\nBoban, M\n\nBochud, M\n\nRheinberger, M\n\nVerweij, N\n\nBouatia-Naji, N\n\nMartin, NG\n\nHastie, N\n\nProbst-Hensch, N\n\nSoranzo, N\n\nDevuyst, O\n\nRaitakari, O\n\nGottesman, O\n\nFranco, OH\n\nPolasek, O\n\nGasparini, P\n\nMunroe, PB\n\nRidker, PM\n\nMitchell, P\n\nMuntner, P\n\nMeisinger, C\n\nSmit, JH\n\nICBP Consortium\n\nAGEN Consortium\n\nCARDIOGRAM\n\nCHARGe-Heart Failure Group\n\nECHOGen Consortium\n\nKovacs, P\n\nWild, PS\n\nFroguel, P\n\nRettig, R\n\nMägi, R\n\nBiffar, R\n\nSchmidt, R\n\nMiddelberg, RP\n\nCarroll, RJ\n\nPenninx, BW\n\nScott, RJ\n\nKatz, R\n\nSedaghat, S\n\nWild, SH\n\nKardia, SL\n\nUlivi, S\n\nHwang, SJ\n\nEnroth, S\n\nKloiber, S\n\nTrompet, S\n\nStengel, B\n\nHancock, SJ\n\nTurner, ST\n\nRosas, SE\n\nStracke, S\n\nHarris, TB\n\nZeller, T\n\nZemunik, T\n\nLehtimäki, T\n\nIllig, T\n\nAspelund, T\n\nNikopensius, T\n\nEsko, T\n\nTanaka, T\n\nGyllensten, U\n\nVölker, U\n\nEmilsson, V\n\nVitart, V\n\nAalto, V\n\nGudnason, V\n\nChouraki, V\n\nChen, WM\n\nIgl, W\n\nMärz, W\n\nKoenig, W\n\nLieb, W\n\nLoos, RJ\n\nLiu, Y\n\nSnieder, H\n\nPramstaller, PP\n\nParsa, A\n\nO'Connell, JR\n\nSusztak, K\n\nHamet, P\n\nTremblay, J\n\nde Boer, IH\n\nBöger, CA\n\nGoessling, W\n\nChasman, DI\n\nKöttgen, A\n\nKao, WH\n\nFox, CS\n\nBeiträge in Fachzeitschriften\nISI:000369032800001\n26831199.0\n10.1038/ncomms10023\nPMC4735748\nReduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133, 13 individuals with replication in up to 42, 66 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.\n\nCavalieri, Margherita\n\nMärz, Winfried\n\nSchmidt, Helena\n\nSchmidt, Reinhold\n\n\n"
}
]
}