Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases

被引：96

作者：

Musone, S. L. ^{[2
,3
,4
]}

Taylor, K. E.

Nititham, J.

Chu, C. ^{[2
,3
,4
]}

Poon, A. ^{[2
,3
,4
]}

Liao, W. ^{[4
]}

Lam, E. T. ^{[2
,3
,4
]}

Ma, A. ^{[5
]}

Kwok, P-Y ^{[2
,3
,4
]}

Criswell, L. A. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Div Rheumatol, Dept Med, 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, Inst Human Genet, San Francisco, CA 94143 USA

[4] Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA

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

来源：

GENES AND IMMUNITY | 2011年 / 12卷 / 03期

关键词：

resequencing; genetic association study; autoimmunity; a20; TNFAIP3; NF-KAPPA-B; GENOME-WIDE ASSOCIATION; RHEUMATOID-ARTHRITIS; ENZYME A20; RISK; SUSCEPTIBILITY; LOCI; FAMILIES; 6Q23;

D O I：

10.1038/gene.2010.64

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The TNFAIP3 locus at 6q23, encoding A20, has been associated with multiple autoimmune diseases (AIDs). In this study, we sequence the coding portions of the gene to identify contributing causal polymorphisms that may explain some of the observed associations. A collection of 123 individuals from the Multiple Autoimmune Disease Genetics Consortium (MADGC) collection, each with multiple AIDs (mean = 2.2 confirmed diagnoses), and 397 unrelated healthy controls were used for initial sequencing. A total of 32 polymorphisms were identified in the sequencing experiments, including 16 novel and 11 coding variants. Association testing in the entire MADGC collection (1,008 Caucasians with one or more AIDs and 770 unaffected family controls) revealed association of a novel intronic insertion-deletion polymorphism with rheumatoid arthritis (RA) (odds ratio (OR) = 2.48, P = 0.041). Genotyping of the most common coding polymorphism, rs2230926, in the MADGC collection and additional control individuals revealed a significant association with Sjogren's syndrome (OR=3.38, P=0.038), Crohn's disease (OR = 2.25, P = 0.041), psoriasis (OR=0.037, P=0.036) and RA (OR = 1.9, P = 0.025). Finally, haplotype and additional testing of polymorphisms revealed that cases were enriched for 50 and 30 untranslated region variants (one-sided P-value = 0.04), but not specifically for common (>2% minor allele frequency), rare, exonic, intronic, non-synonymous or synonymous variants. Genes and Immunity (2011) 12, 176-182; doi:10.1038/gene.2010.64; published online 17 February 2011

引用

页码：176 / 182

页数：7

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