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

作者：Cooper J D^*; Walker N M; Healy B C; Smyth D J; Downes K; Todd J A

来源：Genes and Immunity, 2009, 10: S95-S120.

DOI：10.1038/gene.2009.98

• autoimmune disease
• type I diabetes
• type II diabetes
• SNPs
• T1DGC

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

• 出版日期2009-12
• 单位河北医科大学