Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A. et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat. Genet. 41, 703-707

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Nature Genetics (Impact Factor: 29.35). 05/2009; 41(6):703-7. DOI: 10.1038/ng.381
Source: PubMed


Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 reference samples. Forty-one distinct genomic locations provided evidence for association with T1D in the meta-analysis (P < 10(-6)). After excluding previously reported associations, we further tested 27 regions in an independent set of 4,267 cases, 4,463 controls and 2,319 affected sib-pair (ASP) families. Of these, 18 regions were replicated (P < 0.01; overall P < 5 × 10(-8)) and 4 additional regions provided nominal evidence of replication (P < 0.05). The many new candidate genes suggested by these results include IL10, IL19, IL20, GLIS3, CD69 and IL27.

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    • "The fifth most significant association was observed with C6orf173/rs9388489 located on chromosome 6q22.32. Chromosome 6 open reading frame 173 (C6orf173) plays a central role in assembly of kinetochore proteins, mitotic progression, and chromosome segregation and has been shown to act as a susceptibility locus for T1D and cardiovascular disease (Barrett et al. 2009; Ding and Kullo 2011). "
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    • "SNPs are represented as diamonds and the brightness of each SNP is proportional to the r2 threshold value for that SNP. SNPs rs11755527 and rs1847472 had an r2 value of 0.949 (T1D p-valuemeta 5.38e-08, Barrett et al 2009 [52]) and 0.565 (IBD p-valueichip 1.19e-04, IBD p-valuemeta 1.10e-09, Jostins et al 2012 [71]) respectively (shown in red). "
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