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

doi:10.1038/sj.ejhg.5201485

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

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146 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 language	English
Pages (from-to)	1223-1230
Number of pages	8
Journal	European Journal of Human Genetics
Volume	13
Issue number	11
DOIs	https://doi.org/10.1038/sj.ejhg.5201485
Publication status	Print publication - Nov 2005
Externally published	Yes

Keywords

AITD
GD
Genetic
Graves
TSHR
htSNP

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10.1038/sj.ejhg.5201485

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Dechairo, B. M., Zabaneh, D., Collins, J., Brand, O., Dawson, G. J., Green, A. P., Mackay, I., Franklyn, J. A., Connell, J. M., Wass, J. A. H., Wiersinga, W. M., Hegedus, L., Brix, T., Robinson, B. G., Hunt, P. J., Weetman, A. P., Carey, A. H., & 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

@article{061faad0052343a58bc29e1d3536328d,

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 1059 AITD Caucasian cases and 971 Caucasian controls. A haplotype, across two LD blocks, showed association (P",

keywords = "AITD, GD, Genetic, Graves, TSHR, htSNP",

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

year = "2005",

month = nov,

doi = "10.1038/sj.ejhg.5201485",

language = "English",

volume = "13",

pages = "1223--1230",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "11",

}

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

TY - JOUR

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.

PY - 2005/11

Y1 - 2005/11

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 1059 AITD Caucasian cases and 971 Caucasian controls. A haplotype, across two LD blocks, showed association (P

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

KW - AITD

KW - GD

KW - Genetic

KW - Graves

KW - TSHR

KW - htSNP

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DO - 10.1038/sj.ejhg.5201485

M3 - Article

SN - 1018-4813

VL - 13

SP - 1223

EP - 1230

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -

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

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Keywords

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