Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
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DOI：
10.1038/ng.2792
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发表时间：
2013-11
期刊：
影响因子：
30.8
通讯作者：
Sivils, Kathy L.
中科院分区：
文献类型：
--
作者：
Lessard, Christopher J.;Li, He;Adrianto, Indra;Ice, John A.;Rasmussen, Astrid;Grundahl, Kiely M.;Kelly, Jennifer A.;Dozmorov, Mikhail G.;Miceli-Richard, Corinne;Bowman, Simon;Lester, Sue;Eriksson, Per;Eloranta, Maija-Leena;Brun, Johan G.;Goransson, Lasse G.;Harboe, Erna;Guthridge, Joel M.;Kaufman, Kenneth M.;Kvarnstrom, Marika;Jazebi, Helmi;Graham, Deborah S. Cunninghame;Grandits, Martha E.;Nazmul-Hossain, Abu N. M.;Patel, Ketan;Adler, Adam J.;Maier-Moore, Jacen S.;Farris, A. Darise;Brennan, Michael T.;Lessard, James A.;Chodosh, James;Gopalakrishnan, Rajaram;Hefner, Kimberly S.;Houston, Glen D.;Huang, Andrew J. W.;Hughes, Pamela J.;Lewis, David M.;Radfar, Lida;Rohrer, Michael D.;Stone, Donald U.;Wren, Jonathan D.;Vyse, Timothy J.;Gaffney, Patrick M.;James, Judith A.;Omdal, Roald;Wahren-Herlenius, Marie;Illei, Gabor G.;Witte, Torsten;Jonsson, Roland;Rischmueller, Maureen;Ronnblom, Lars;Nordmark, Gunnel;Wan-Fai Ng;Mariette, Xavier;Anaya, Juan-Manuel;Rhodus, Nelson L.;Segal, Barbara M.;Scofield, R. Hal;Montgomery, Courtney G.;Harley, John B.;Sivils, Kathy L.
干燥综合征是一种常见的自身免疫性疾病（约占欧洲裔美国人的 0.7%），通常表现为干燥性角结膜炎和口干症。除了 6p21 处 HLA 区域内的强关联 (Pmeta=7.65×10−114) 之外，我们还与 IRF5-TNPO3 (Pmeta=2.73×10−19)、STAT4 (Pmeta=6.80×10−15)、IL12A (Pmeta =1.17×10−10)、FAM167A-BLK 建立关联（Pmeta=4.97×10−10）、DDX6-CXCR5（Pmeta=1.10×10−8）和TNIP1（Pmeta=3.30×10−8）。在 29 个区域中观察到与 Pmeta<5×10−5 的暗示关联，包括 TNFAIP3、PTTG1、PRDM1、DGKQ、FCGR2A、IRAK1BP1、ITSN2 和 PHIP 等。这些结果强调了参与干燥综合征先天免疫和适应性免疫的基因的重要性。
Sjögren’s syndrome is a common autoimmune disease (~0.7% of European Americans) typically presenting as keratoconjunctivitis sicca and xerostomia. In addition to strong association within the HLA region at 6p21 (Pmeta=7.65×10−114), we establish associations with IRF5-TNPO3 (Pmeta=2.73×10−19), STAT4 (Pmeta=6.80×10−15), IL12A (Pmeta =1.17×10−10), FAM167A-BLK (Pmeta=4.97×10−10), DDX6-CXCR5 (Pmeta=1.10×10−8), and TNIP1 (Pmeta=3.30×10−8). Suggestive associations with Pmeta<5×10−5 were observed with 29 regions including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2, and PHIP amongst others. These results highlight the importance of genes involved in both innate and adaptive immunity in Sjögren’s syndrome.
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影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
影响因子：
4.5
作者：
Allanore Y;Saad M;Dieudé P;Avouac J;Distler JH;Amouyel P;Matucci-Cerinic M;Riemekasten G;Airo P;Melchers I;Hachulla E;Cusi D;Wichmann HE;Wipff J;Lambert JC;Hunzelmann N;Tiev K;Caramaschi P;Diot E;Kowal-Bielecka O;Valentini G;Mouthon L;Czirják L;Damjanov N;Salvi E;Conti C;Müller M;Müller-Ladner U;Riccieri V;Ruiz B;Cracowski JL;Letenneur L;Dupuy AM;Meyer O;Kahan A;Munnich A;Boileau C;Martinez M
通讯作者：
Martinez M
影响因子：
14.9
作者：
Frisch M;Klocke B;Haltmeier M;Frech K
通讯作者：
Frech K
DOI：
10.1056/nejmoa0810440
发表时间：
2009-06-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hirschfield GM;Liu X;Xu C;Lu Y;Xie G;Lu Y;Gu X;Walker EJ;Jing K;Juran BD;Mason AL;Myers RP;Peltekian KM;Ghent CN;Coltescu C;Atkinson EJ;Heathcote EJ;Lazaridis KN;Amos CI;Siminovitch KA
通讯作者：
Siminovitch KA
影响因子：
14.9
作者：
Fujita PA;Rhead B;Zweig AS;Hinrichs AS;Karolchik D;Cline MS;Goldman M;Barber GP;Clawson H;Coelho A;Diekhans M;Dreszer TR;Giardine BM;Harte RA;Hillman-Jackson J;Hsu F;Kirkup V;Kuhn RM;Learned K;Li CH;Meyer LR;Pohl A;Raney BJ;Rosenbloom KR;Smith KE;Haussler D;Kent WJ
通讯作者：
Kent WJ