作者
Oliver J Brand, Jeffrey C Barrett, Matthew J Simmonds, Paul R Newby, Christopher J McCabe, Christopher K Bruce, Boris Kysela, Jackie D Carr-Smith, Thomas Brix, Penny J Hunt, Wilmar M Wiersinga, Laszlo Hegedüs, John Connell, John AH Wass, Jayne A Franklyn, Anthony P Weetman, Joanne M Heward, Stephen CL Gough
发表日期
2009/5/1
期刊
Human molecular genetics
卷号
18
期号
9
页码范围
1704-1713
出版商
Oxford University Press
简介
Graves’ disease (GD) is a common autoimmune disease (AID) that shares many of its susceptibility loci with other AIDs. The thyroid stimulating hormone receptor (TSHR) represents the primary autoantigen in GD, in which autoantibodies bind to the receptor and mimic its ligand, thyroid stimulating hormone, causing the characteristic clinical phenotype. Although early studies investigating the TSHR and GD proved inconclusive, more recently we provided convincing evidence for association of the TSHR region with disease. In the current study, we investigated a combined panel of 98 SNPs, including 70 tag SNPs, across an extended 800 kb region of the TSHR to refine association in a cohort of 768 GD subjects and 768 matched controls. In total, 28 SNPs revealed association with GD ( P < 0.05), with strongest SNP associations at rs179247 …
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OJ Brand, JC Barrett, MJ Simmonds, PR Newby… - Human molecular genetics, 2009