Seven newly identified loci for autoimmune thyroid disease

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 po...

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Bibliographic Details
Published in:Human molecular genetics 2012-12, Vol.21 (23), p.5202-5208
Main Authors: Cooper, Jason D, Simmonds, Matthew J, Walker, Neil M, Burren, Oliver, Brand, Oliver J, Guo, Hui, Wallace, Chris, Stevens, Helen, Coleman, Gillian, Franklyn, Jayne A, Todd, John A, Gough, Stephen C L
Format: Article
Language:English
Subjects:
Association Studies
Autoimmune Diseases - genetics
Autoimmune Diseases - immunology
Case-Control Studies
Chromosome Banding
Chromosome Mapping
Female
Gene frequency
Genetic Loci
Genetic Predisposition to Disease
Graves Disease - genetics
Graves Disease - immunology
Hashimoto Disease - genetics
Hashimoto Disease - immunology
Humans
Male
Polymorphism, Single Nucleotide
Thyroid Diseases - genetics
Thyroid Diseases - immunology
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/dds357