CD226 Gly307Ser association with multiple autoimmune diseases

Hafler, J. P., Maier, L. M., Cooper, J. D. , Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

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Genome-wide association studies provide insight into multigenic diseases through the identification of susceptibility genes and etiological pathways. In addition, the identification of shared variants among autoimmune disorders provides insight into common disease pathways. We previously reported an association of a nonsynonymous single nucleotide polymorphism (SNP) rs763361/Gly307Ser in the immune response gene CD226 on chromosome 18q22 with type 1 diabetes (T1D) susceptibility. Here, we report efforts toward identifying the causal variant by exonic resequencing and tag SNP mapping of the 18q22 region in both T1D and multiple sclerosis (MS). In addition to the analysis of newly available samples in T1D (2088 cases and 3289 controls) and autoimmune thyroid disease (AITD) (821 cases and 1920 controls), resulting in strong support for the Ser307 association with T1D (P = 3.46 � 10-9) and continued potential evidence for AITD (P = 0.0345), we provide evidence for association of Gly307Ser with MS (P = 4.20 � 10-4) and rheumatoid arthritis (RA) (P = 0.017). The Ser307 allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and possibly AITD and RA, and based on the tag SNP analysis, could be the causal variant.

Keywords:alanine, glutamine, glycine, leucine, membrane protein, protein CD226, serine, unclassified drug, adult, article, autoimmune disease, chromosome 18q, controlled study, exon, female, gene mapping, gene sequence, genetic analysis, genetic association, genetic predisposition, genetic susceptibility, genetic variability, genotype, human, major clinical study, male, multiple sclerosis, priority journal, rheumatoid arthritis, single nucleotide polymorphism, thyroid disease, Alleles, Antigens, Differentiation, T-Lymphocyte, Autoimmune Diseases, Case-Control Studies, Chromosomes, Human, Pair 18, Confidence Intervals, Diabetes Mellitus, Type 1, Exons, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Odds Ratio, Physical Chromosome Mapping, Polymorphism, Single Nucleotide
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22616
Deposited On:20 Mar 2016 17:26

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