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

Bryan M. Dechairo, Delilah Zabaneh, Joanne Collins, Oliver Brand, Gary J. Dawson, Angie P. Green, Ian Mackay, Jayne A. Franklyn, John M. Connell, John A.H. Wass, Wilmar M. Wiersinga, Laszlo Hegedus, Thomas Brix, Bruce G. Robinson, Penny J. Hunt, Anthony P. Weetman, Alisoun H. Carey, Stephen C. Gough

Research output: Contribution to journalArticlepeer-review

142 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 1059 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
Issue number11
Publication statusPrint publication - Nov 2005
Externally publishedYes


  • AITD
  • GD
  • Genetic
  • Graves
  • TSHR
  • htSNP


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