Association of the TSHR gene with Graves' disease: the first disease specific locus

Research output: Contribution to journalArticle


  • BM Dechairo
  • D Zabaneh
  • Joanne Collins
  • GJ Dawson
  • AP Green
  • I Mackay
  • JM Connell
  • JAH Wass
  • WM Wiersinga
  • L Hegedus
  • T Brix
  • BG Robinson
  • PJ Hunt
  • AP Weetman
  • AH Carey

Colleges, School and Institutes


The development of autoimmune thyroid disease (AITD) is associated with autoantibodies directed against the thyroid stimulating hormone receptor (TSHR). Previous studies have failed to demonstrate a consistent association between the TSHR and AITD, or any of its sub-phenotypes. In the present study, we analysed the linkage disequilibrium (LD) structure encompassing the TSHR, to identify LD 'blocks' and SNPs, which capture the majority of intra-block haplotype diversity. The haplotype tagging SNPs, plus all common SNPs reported in previous studies were genotyped in 1,059 AITD Caucasian cases and 971 Caucasian controls. A haplotype, across two LD blocks, showed association (P


Original languageEnglish
Pages (from-to)1223-1230
Number of pages8
JournalEuropean Journal of Human Genetics
Publication statusPublished - 17 Aug 2005


  • GD, htSNP, genetic, AITD, Graves, TSHR