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

doi:10.1038/sj.ejhg.5201485

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

Birmingham Medical School

Research output: Contribution to journal › Article

128 Citations (Scopus)

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

Original language	English
Pages (from-to)	1223-1230
Number of pages	8
Journal	European Journal of Human Genetics
Volume	13
DOIs	https://doi.org/10.1038/sj.ejhg.5201485
Publication status	Published - 17 Aug 2005

Keywords

GD
htSNP
genetic
AITD
Graves
TSHR

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Dechairo, BM., Zabaneh, D., Collins, J., Brand, O., Dawson, GJ., Green, AP., Mackay, I., Franklyn, J., Connell, JM., Wass, JAH., Wiersinga, WM., Hegedus, L., Brix, T., Robinson, BG., Hunt, PJ., Weetman, AP., Carey, AH., & Gough, S. (2005). Association of the TSHR gene with Graves' disease: the first disease specific locus. European Journal of Human Genetics, 13, 1223-1230. https://doi.org/10.1038/sj.ejhg.5201485

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title = "Association of the TSHR gene with Graves' disease: the first disease specific locus",

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",

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Dechairo, BM, Zabaneh, D, Collins, J, Brand, O, Dawson, GJ, Green, AP, Mackay, I, Franklyn, J, Connell, JM, Wass, JAH, Wiersinga, WM, Hegedus, L, Brix, T, Robinson, BG, Hunt, PJ, Weetman, AP, Carey, AH & Gough, S 2005, 'Association of the TSHR gene with Graves' disease: the first disease specific locus', European Journal of Human Genetics, vol. 13, pp. 1223-1230. https://doi.org/10.1038/sj.ejhg.5201485

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AU - Zabaneh, D

AU - Collins, Joanne

AU - Brand, Oliver

AU - Dawson, GJ

AU - Green, AP

AU - Mackay, I

AU - Franklyn, Jayne

AU - Connell, JM

AU - Wass, JAH

AU - Wiersinga, WM

AU - Hegedus, L

AU - Brix, T

AU - Robinson, BG

AU - Hunt, PJ

AU - Weetman, AP

AU - Carey, AH

AU - Gough, Stephen

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N2 - 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

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KW - Graves

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JO - European Journal of Human Genetics

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ER -

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

Abstract

Keywords

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