Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

被引：67

作者：

Barton, Anne ^{[1
]}

Eyre, Steve ^{[1
]}

Ke, Xiayi ^{[1
]}

Hinks, Anne ^{[1
]}

Bowes, John ^{[1
]}

Flynn, Edward ^{[1
]}

Martin, Paul ^{[1
]}

Wilson, Anthony G. ^{[6
]}

Morgan, Ann W. ^{[2
]}

Emery, Paul ^{[2
]}

Steer, Sophia ^{[3
]}

Hocking, Lynne J. ^{[4
]}

Reid, David M. ^{[4
]}

Harrison, Pille ^{[5
]}

Wordsworth, Paul ^{[5
]}

Thomson, Wendy ^{[1
]}

Worthington, Jane ^{[1
]}

机构：

[1] Univ Manchester, Arc Epidemiol Unit, Manchester, Lancs, England

[2] Univ Leeds, Leeds Inst Mol Med, Sect Musculoskeletal Dis, Leeds, W Yorkshire, England

[3] Kings Coll Hosp NHS Fdn Trust, London SE5 9RS, England

[4] Univ Aberdeen, Div Appl Med, Musculoskeletal & Genet Sect, Aberdeen AB25 2ZD, Scotland

[5] Univ Oxford, Inst Musculoskeletal Sci, Botnar Res Ctr, Oxford OX3 7LD, England

[6] Univ Sheffield, Sch Med & Biomed Sci, Sheffield S10 2JF, S Yorkshire, England

来源：

HUMAN MOLECULAR GENETICS | 2009年 / 18卷 / 13期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

MULTIPLE-SCLEROSIS; INTERLEUKIN-7; RECEPTOR; RISK LOCUS; ASSOCIATION; DISEASE; CLASSIFICATION; METHOTREXATE; CTLA4; 6Q23;

D O I：

10.1093/hmg/ddp177

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 x 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 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 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.

引用

页码：2518 / 2522

页数：5

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