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Seven newly identified loci for autoimmune thyroid disease

2012/08/24 by Jason D. Cooper, Matthew J. Simmonds, Neil M. Walker +13 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Diabetes and associated disorders #Digestive system and related health #Genetic Associations and Epidemiology

paper · pdf · doi:10.1093/hmg/dds357

openalex publication_date 2012/08/24 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

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.

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