Seven newly identified loci for autoimmune thyroid disease

• Published in: Human molecular genetics Vol. 21; no. 23; pp. 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: Journal Article
• Language: English
• Published: England Oxford University Press 01.12.2012
• 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
• ISSN: 1460-2083; 0964-6906; 1460-2083
• DOI: 10.1093/hmg/dds357

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.