Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1

被引：21

作者：

Cooper, J. D. ^{[1
]}

Walker, N. M. ^{[1
]}

Healy, B. C. ^{[1
]}

Smyth, D. J. ^{[1
]}

Downes, K. ^{[1
]}

Todd, J. A. ^{[1
]}

机构：

[1] Univ Cambridge, JDRF WT Diabet & Inflammat Lab, Cambridge Inst Med Res, Addenbrookes Hosp,Dept Med Genet, Cambridge CB2 0XY, England

来源：

GENES AND IMMUNITY | 2009年 / 10卷

基金：

英国惠康基金;

关键词：

autoimmune disease; type I diabetes; type II diabetes; SNPs; T1DGC; ASSOCIATION; VARIANTS;

D O I：

10.1038/gene.2009.98

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A candidate gene study was conducted on 10 established type II diabetes genes and 45 genes associated with autoimmune diseases, including type I diabetes (T1D), in a maximum of 1410 affected sib-pair families assembled by the Type I Diabetes Genetics Consortium. Associations at P values <10(-3) were found for three known T1D regions at chromosomes 4q27, 12q13.2 and 12q24.13 (http://www.T1DBase.org). Support was obtained for a newly identified T1D candidate locus on chromosome 12q13.3-12q14.1 (rs1678536/KIF5A: P = 8.1 x 10(-3); relative risk (RR) for minor allele = 0.89, 95% CI = 0.82-0.97), which has a separate association from the previously reported T1D candidate locus ERBB3/12q13.2-q13.3. Our new evidence adds to that previously published for the same gene region in a T1D case-control study (rs1678542; P = 3.0 x 10(-4); odds ratio (OR) = 0.92, 95% CI = 0.88-0.96). This region, which contains many genes, has also been associated with rheumatoid arthritis. Genes and Immunity (2009) 10, S95-S120; doi:10.1038/gene.2009.98

引用

页码：S95 / S120

页数：26

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