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

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Abstract
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 −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 × 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 × 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.