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 journalArticle

124 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 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
Volume13
Issue number11
DOIs
Publication statusPrint publication - Nov 2005
Externally publishedYes

Fingerprint

Thyrotropin Receptors
Graves Disease
Thyroid Diseases
Linkage Disequilibrium
Haplotypes
Autoimmune Diseases
Single Nucleotide Polymorphism
Genes
Autoantibodies
Phenotype

Keywords

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

Cite this

Dechairo, B. M., Zabaneh, D., Collins, J., Brand, O., Dawson, G. J., Green, A. P., ... Gough, S. C. (2005). Association of the TSHR gene with Graves' disease: the first disease specific locus. European Journal of Human Genetics, 13(11), 1223-1230. https://doi.org/10.1038/sj.ejhg.5201485
Dechairo, Bryan M. ; Zabaneh, Delilah ; Collins, Joanne ; Brand, Oliver ; Dawson, Gary J. ; Green, Angie P. ; Mackay, Ian ; Franklyn, Jayne A. ; Connell, John M. ; Wass, John A.H. ; Wiersinga, Wilmar M. ; Hegedus, Laszlo ; Brix, Thomas ; Robinson, Bruce G. ; Hunt, Penny J. ; Weetman, Anthony P. ; Carey, Alisoun H. ; Gough, Stephen C. / Association of the TSHR gene with Graves' disease: the first disease specific locus. In: European Journal of Human Genetics. 2005 ; Vol. 13, No. 11. pp. 1223-1230.
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Dechairo, BM, Zabaneh, D, Collins, J, Brand, O, Dawson, GJ, Green, AP, Mackay, I, Franklyn, JA, Connell, JM, Wass, JAH, Wiersinga, WM, Hegedus, L, Brix, T, Robinson, BG, Hunt, PJ, Weetman, AP, Carey, AH & Gough, SC 2005, 'Association of the TSHR gene with Graves' disease: the first disease specific locus', European Journal of Human Genetics, vol. 13, no. 11, pp. 1223-1230. https://doi.org/10.1038/sj.ejhg.5201485

Association of the TSHR gene with Graves' disease: the first disease specific locus. / Dechairo, Bryan M.; Zabaneh, Delilah; Collins, Joanne; Brand, Oliver; Dawson, Gary J.; Green, Angie P.; Mackay, Ian; Franklyn, Jayne A.; Connell, John M.; Wass, John A.H.; Wiersinga, Wilmar M.; Hegedus, Laszlo; Brix, Thomas; Robinson, Bruce G.; Hunt, Penny J.; Weetman, Anthony P.; Carey, Alisoun H.; Gough, Stephen C.

In: European Journal of Human Genetics, Vol. 13, No. 11, 11.2005, p. 1223-1230.

Research output: Contribution to journalArticle

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T1 - Association of the TSHR gene with Graves' disease: the first disease specific locus

AU - Dechairo, Bryan M.

AU - Zabaneh, Delilah

AU - Collins, Joanne

AU - Brand, Oliver

AU - Dawson, Gary J.

AU - Green, Angie P.

AU - Mackay, Ian

AU - Franklyn, Jayne A.

AU - Connell, John M.

AU - Wass, John A.H.

AU - Wiersinga, Wilmar M.

AU - Hegedus, Laszlo

AU - Brix, Thomas

AU - Robinson, Bruce G.

AU - Hunt, Penny J.

AU - Weetman, Anthony P.

AU - Carey, Alisoun H.

AU - Gough, Stephen C.

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Y1 - 2005/11

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AB - 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

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KW - GD

KW - Genetic

KW - Graves

KW - TSHR

KW - htSNP

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U2 - 10.1038/sj.ejhg.5201485

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M3 - Article

VL - 13

SP - 1223

EP - 1230

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

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ER -