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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




Journal article


Human molecular genetics

Publication Date





5202 - 5208


Department of Medical Genetics, Cambridge Institute for Medical Research, Juvenile Diabetes Research Foundation/ Wellcome Trust Diabetes and Inflammation Laboratory, NIHR Cambridge Biomedical Research Centre, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK.


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