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

BM Dechairo, D Zabaneh, Joanne Collins, Oliver Brand, GJ Dawson, AP Green, I Mackay, Jayne Franklyn, JM Connell, JAH Wass, WM Wiersinga, L Hegedus, T Brix, BG Robinson, PJ Hunt, AP Weetman, AH Carey, Stephen Gough

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128 Citations (Scopus)


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


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