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Seven newly identified loci for autoimmune thyroid disease

  • Jason D. Cooper (Lead / Corresponding author)
  • , Matthew J. Simmonds
  • , Neil M. Walker
  • , Oliver Burren
  • , Oliver J. Brand
  • , Hui Guo
  • , Chris Wallace
  • , Helen Stevens
  • , Gillian Coleman
  • , Wellcome Trust Case Control Consortium
  • , Jayne A. Franklyn
  • , John A. Todd
  • , Stephen C.L. Gough
  • , Craig Mowat (Contributing member)

    Research output: Contribution to journal › Article › peer-review

    76 Downloads (Pure)

    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.

    Original languageEnglish
    Pages (from-to)5202-5208
    Number of pages7
    JournalHuman Molecular Genetics
    Volume21
    Issue number23
    DOIs
    Publication statusPublished - 1 Dec 2012

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics
    • Genetics(clinical)

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