Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
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DOI：
10.1038/ng.764
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发表时间：
2011-03
期刊：
影响因子：
30.8
通讯作者：
Rioux, John D.
中科院分区：
文献类型：
--
作者：
Anderson, Carl A.;Boucher, Gabrielle;Lees, Charlie W.;Franke, Andre;D'Amato, Mauro;Taylor, Kent D.;Lee, James C.;Goyette, Philippe;Imielinski, Marcin;Latiano, Anna;Lagace, Caroline;Scott, Regan;Amininejad, Leila;Bumpstead, Suzannah;Baidoo, Leonard;Baldassano, Robert N.;Barclay, Murray;Bayless, Theodore M.;Brand, Stephan;Buening, Carsten;Colombel, Jean-Frederic;Denson, Lee A.;De Vos, Martine;Dubinsky, Marla;Edwards, Cathryn;Ellinghaus, David;Fehrmann, Rudolf S. N.;Floyd, James A. B.;Florin, Timothy;Franchimont, Denis;Franke, Lude;Georges, Michel;Glas, Juergen;Glazer, Nicole L.;Guthery, Stephen L.;Haritunians, Talin;Hayward, Nicholas K.;Hugot, Jean-Pierre;Jobin, Gilles;Laukens, Debby;Lawrance, Ian;Lemann, Marc;Levine, Arie;Libioulle, Cecile;Louis, Edouard;McGovern, Dermot P.;Milla, Monica;Montgomery, Grant W.;Morley, Katherine I.;Mowat, Craig;Ng, Aylwin;Newman, William;Ophoff, Roel A.;Papi, Laura;Palmieri, Orazio;Peyrin-Biroulet, Laurent;Panes, Julian;Phillips, Anne;Prescott, Natalie J.;Proctor, Deborah D.;Roberts, Rebecca;Russell, Richard;Rutgeerts, Paul;Sanderson, Jeremy;Sans, Miquel;Schumm, Philip;Seibold, Frank;Sharma, Yashoda;Simms, Lisa A.;Seielstad, Mark;Steinhart, A. Hillary;Targan, Stephan R.;van den Berg, Leonard H.;Vatn, Morten;Verspaget, Hein;Walters, Thomas;Wijmenga, Cisca;Wilson, David C.;Westra, Harm-Jan;Xavier, Ramnik J.;Zhao, Zhen Z.;Ponsioen, Cyriel Y.;Andersen, Vibeke;Torkvist, Leif;Gazouli, Maria;Anagnou, Nicholas P.;Karlsen, Tom H.;Kupcinskas, Limas;Sventoraityte, Jurgita;Mansfield, John C.;Kugathasan, Subra;Silverberg, Mark S.;Halfvarson, Jonas;Rotter, Jerome I.;Mathew, Christopher G.;Griffiths, Anne M.;Gearry, Richard;Ahmad, Tariq;Brant, Steven R.;Chamaillard, Mathias;Satsangi, Jack;Cho, Judy H.;Schreiber, Stefan;Daly, Mark J.;Barrett, Jeffrey C.;Parkes, Miles;Annese, Vito;Hakonarson, Hakon;Radford-Smith, Graham;Duerr, Richard H.;Vermeire, Severine;Weersma, Rinse K.;Rioux, John D.
全基因组关联研究（GWAS）和溃疡性结肠炎（UC）的候选基因研究已确定了18个易感基因位点。我们对6例UC GWAS（包括6，687例病例和19，718例对照）进行了荟萃分析，并对9，628例病例和12，917例对照中的主要相关信号进行了随访。我们确定了29个额外的风险位点（P<5×10-8），使UC相关位点的数量增加到47个。在使用GRAIL、eQTL数据和与非同义SNP的相关性注释相关区域后，我们鉴定了许多候选基因，这些基因为疾病发病机制提供了潜在的重要见解，包括IL 1 R2、IL 8 RA/B、IL 7 R、IL 12 B、DAP、PRDM 1、JAK 2、IRF 5、GNA 12和LSP 1。目前已确认的炎症性肠病（IBD）风险位点总数为99个，包括克罗恩病（CD）和UC之间至少28个共享的关联信号。
Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, comprising 6,687 cases and 19,718 controls, and followed-up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P<5×10-8), increasing the number of UC associated loci to 47. After annotating associated regions using GRAIL, eQTL data and correlations with non-synonymous SNPs, we identified many candidate genes providing potentially important insights into disease pathogenesis, including IL1R2, IL8RA/B, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease (IBD) risk loci is now 99, including a minimum of 28 shared association signals between Crohn’s disease (CD) and UC.
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影响因子：
30.8
作者：
Kugathasan, Subra;Baldassano, Robert N.;Bradfield, Jonathan P.;Sleiman, Patrick M. A.;Imielinski, Marcin;Guthery, Stephen L.;Cucchiara, Salvatore;Kim, Cecilia E.;Frackelton, Edward C.;Annaiah, Kiran;Glessner, Joseph T.;Santa, Erin;Willson, Tara;Eckert, Andrew W.;Bonkowski, Erin;Shaner, Julie L.;Smith, Ryan M.;Otieno, F. George;Peterson, Nicholas;Abrams, Debra J.;Chiavacci, Rosetta M.;Grundmeier, Robert;Mamula, Petar;Tomer, Gitit;Piccoli, David A.;Monos, Dimitri S.;Annese, Vito;Denson, Lee A.;Grant, Struan F. A.;Hakonarson, Hakon
通讯作者：
Hakonarson, Hakon
影响因子：
30.8
作者：
Imielinski, Marcin;Baldassano, Robert N.;Griffiths, Anne;Russell, Richard K.;Annese, Vito;Dubinsky, Marla;Kugathasan, Subra;Bradfield, Jonathan P.;Walters, Thomas D.;Sleiman, Patrick;Kim, Cecilia E.;Muise, Aleixo;Wang, Kai;Glessner, Joseph T.;Saeed, Shehzad;Zhang, Haitao;Frackelton, Edward C.;Hou, Cuiping;Flory, James H.;Otieno, George;Chiavacci, Rosetta M.;Grundmeier, Robert;Castro, Massimo;Latiano, Anna;Dallapiccola, Bruno;Stempak, Joanne;Abrams, Debra J.;Taylor, Kent;McGovern, Dermot;Heyman, Melvin B.;Ferry, George D.;Kirschner, Barbara;Lee, Jessica;Essers, Jonah;Grand, Richard;Stephens, Michael;Levine, Arie;Piccoli, David;Van Limbergen, Johan;Cucchiara, Salvatore;Monos, Dimitri S.;Guthery, Stephen L.;Denson, Lee;Wilson, David C.;Grant, Struan F. A.;Daly, Mark;Silverberg, Mark S.;Satsangi, Jack;Hakonarson, Hakon
通讯作者：
Hakonarson, Hakon
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
2.8
作者：
Kuester, Doerthe;Guenther, Thomas;Schneider-Stock, Regine
通讯作者：
Schneider-Stock, Regine
影响因子：
5.8
作者：
Johnson, Andrew D.;Handsaker, Robert E.;de Bakker, Paul I. W.
通讯作者：
de Bakker, Paul I. W.