Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
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DOI：
10.1093/hmg/ddp177
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发表时间：
2009-07-01
影响因子：
3.5
通讯作者：
Worthington J
中科院分区：
文献类型：
--
作者：
Barton A;Eyre S;Ke X;Hinks A;Bowes J;Flynn E;Martin P;YEAR Consortium;BIRAC Consortium;Wilson AG;Morgan AW;Emery P;Steer S;Hocking LJ;Reid DM;Harrison P;Wordsworth P;Thomson W;Worthington J
不同自身免疫性疾病的共同易感基因的概念现在得到了牢固的确立，先前的研究表明，导致1型糖尿病(T1D)的易感基因与乳糜泻和多发性硬化症的易感性基因重叠。类风湿关节炎(RA)是一种典型的自身免疫性疾病，因此，我们针对英国类风湿关节炎患者和非相关对照的T1D易感基因进行基因分型。在6819例RA患者和12650例对照的联合样本队列中发现了一个新的RA易感基因座[OR1.12，95%可信区间(CI)1.07~1.17，P=2.8×10−7]。两个基因座(CTLA-4和4q27)与RA的关联也被复制(OR0.87，95%CI 0.82~0.94，P=1.1×10−4和OR0.86，95%CI 0.79~0.94，P=5.4×10−4)。这些发现使已建立的RA易感基因的数量达到13个，其中只有一个与其他自身免疫性疾病无关。
The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07–1.17, P = 2.8 × 10−7]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82–0.94, P = 1.1 × 10−4 and OR 0.86, 95% CI 0.79–0.94, P = 5.4 × 10−4, respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.
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影响因子：
158.5
作者：
Plenge, Robert M.;Seielstad, Mark;Gregersen, Peter K.
通讯作者：
Gregersen, Peter K.
影响因子：
5
作者：
Booth, David R.;Heard, Robert N.;Haines, Jonathan
通讯作者：
Haines, Jonathan
影响因子：
30.8
作者：
Lundmark, Frida;Duvefelt, Kristina;Hillert, Jan
通讯作者：
Hillert, Jan
DOI：
10.1056/nejmoa0807917
发表时间：
2008-12-25
期刊：
The New England journal of medicine
影响因子：
--
作者：
Smyth DJ;Plagnol V;Walker NM;Cooper JD;Downes K;Yang JH;Howson JM;Stevens H;McManus R;Wijmenga C;Heap GA;Dubois PC;Clayton DG;Hunt KA;van Heel DA;Todd JA
通讯作者：
Todd JA
影响因子：
30.8
作者：
Barton A;Thomson W;Ke X;Eyre S;Hinks A;Bowes J;Plant D;Gibbons LJ;Wellcome Trust Case Control Consortium;YEAR Consortium;BIRAC Consortium;Wilson AG;Bax DE;Morgan AW;Emery P;Steer S;Hocking L;Reid DM;Wordsworth P;Harrison P;Worthington J
通讯作者：
Worthington J