Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

被引：362

作者：

Musone, Stacy L. ^{[2
]}

Taylor, Kimberly E. ^{[1
]}

Lu, Timothy T. ^{[3
]}

Nititham, Joanne ^{[1
]}

Ferreira, Ricardo C. ^{[4
]}

Ortmann, Ward ^{[4
]}

Shifrin, Nataliya ^{[3
]}

Petri, Michelle A. ^{[5
]}

Kamboh, M. Ilyas ^{[6
]}

Manzi, Susan ^{[6
]}

Seldin, Michael F. ^{[7
]}

Gregersen, Peter K. ^{[8
]}

Behrens, Timothy W. ^{[4
]}

Ma, Averil ^{[3
]}

Kwok, Pui-Yan ^{[2
]}

Criswell, Lindsey A. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Rosalind Russell Med Res Ctr Arthrit, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA

[3] Univ Calif San Francisco, Colitis & Crohns Dis Ctr, Dept Med, San Francisco, CA 94143 USA

[4] Genentech Inc, San Francisco, CA 94080 USA

[5] Johns Hopkins Univ, Sch Med, Baltimore, MD 20205 USA

[6] Univ Pittsburgh, Med Ctr, Pittsburgh, PA 15261 USA

[7] Univ Calif Davis, Rowe Program Mol Med & Human Genet, Davis, CA 95616 USA

[8] Feinstein Inst Med Res, N Shore Long Isl Jewish Hlth Syst, Manhasset, NY 11030 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 09期

关键词：

D O I：

10.1038/ng.202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene encodes a ubiquitin editing enzyme, A20, that restricts NF-kappa B-dependent signaling and prevents inflammation. We show that three independent SNPs in the TNFAIP3 region (rs13192841, rs2230926 and rs6922466) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry. These findings provide critical links between A20 and the etiology of SLE.

引用

页码：1062 / 1064

页数：3

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