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

Dechairo, BM
Zabaneh, D
Collins, J
Brand, O
Dawson, GJ
Green, AP
Mackay, I
Franklyn, JA
Connell, JM
Wass, JA
Wiersinga, WM
Hegedus, L
Brix, T
Robinson, BG
Hunt, PJ
Weetman, AP
Carey, AH
Gough, SC

Open link

Publication date

November 2005

DOI

10.1038/sj.ejhg.5201485

Publisher

Springer Science and Business Media LLC

Journal

European Journal of Human Genetics

Abstract

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<1 x 10(-6), OR 1.7) with Graves' disease (GD) but not autoimmune hy...