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Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), is one of the most common of the immune-mediated diseases. To further investigate the genetic determinants of AITD, we conducted an association study using a custom-made single-nucleotide polymorphism (SNP) array, the ImmunoChip. The SNP array contains all known and genotype-able SNPs across 186 distinct susceptibility loci associated with one or more immune-mediated diseases. After stringent quality control, we analysed 103 875 common SNPs (minor allele frequency >0.05) in 2285 GD and 462 HT patients and 9364 controls. We found evidence for seven new AITD risk loci (P < 1.12 × 10(-6); a permutation test derived significance threshold), five at locations previously associated and two at locations awaiting confirmation, with other immune-mediated diseases.

Original publication

DOI

10.1093/hmg/dds357

Type

Journal article

Journal

Hum Mol Genet

Publication Date

01/12/2012

Volume

21

Pages

5202 - 5208

Keywords

Autoimmune Diseases, Case-Control Studies, Chromosome Banding, Chromosome Mapping, Female, Genetic Loci, Genetic Predisposition to Disease, Graves Disease, Hashimoto Disease, Humans, Male, Polymorphism, Single Nucleotide, Thyroid Diseases