Seven newly identified loci for autoimmune thyroid disease

JD Cooper, MJ Simmonds, NM Walker… - Human molecular …, 2012 - academic.oup.com
JD Cooper, MJ Simmonds, NM Walker, O Burren, OJ Brand, H Guo, C Wallace, H Stevens…
Human molecular genetics, 2012academic.oup.com
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 …
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.
Oxford University Press