Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).

Oliver Brand; JC Barrett; Matthew Simmonds; Paul Newby; Christopher McCabe; Christopher Bruce; Boris Kysela; Jacqueline Carr-Smith; T Brix; PJ Hunt; WM Wiersinga; L Hegedus; J Connell; JA Wass; Jayne Franklyn; AP Weetman; JM Heward; Stephen Gough

doi:10.1093/hmg/ddp087

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).

Oliver Brand, JC Barrett, Matthew Simmonds, Paul Newby, Christopher McCabe, Christopher Bruce, Boris Kysela, Jacqueline Carr-Smith, T Brix, PJ Hunt, WM Wiersinga, L Hegedus, J Connell, JA Wass, Jayne Franklyn, AP Weetman, JM Heward, Stephen Gough

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Abstract

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 (TSH), 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 800Kb 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

Original language	English
Journal	Human Molecular Genetics
DOIs	https://doi.org/10.1093/hmg/ddp087
Publication status	Published - 25 Feb 2009

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Brand, O., Barrett, JC., Simmonds, M., Newby, P., McCabe, C., Bruce, C., Kysela, B., Carr-Smith, J., Brix, T., Hunt, PJ., Wiersinga, WM., Hegedus, L., Connell, J., Wass, JA., Franklyn, J., Weetman, AP., Heward, JM., & Gough, S. (2009). Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD). Human Molecular Genetics. https://doi.org/10.1093/hmg/ddp087

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title = "Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).",

abstract = "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 (TSH), 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 800Kb 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",

author = "Oliver Brand and JC Barrett and Matthew Simmonds and Paul Newby and Christopher McCabe and Christopher Bruce and Boris Kysela and Jacqueline Carr-Smith and T Brix and PJ Hunt and WM Wiersinga and L Hegedus and J Connell and JA Wass and Jayne Franklyn and AP Weetman and JM Heward and Stephen Gough",

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Brand, O, Barrett, JC, Simmonds, M, Newby, P , McCabe, C, Bruce, C, Kysela, B, Carr-Smith, J, Brix, T, Hunt, PJ, Wiersinga, WM, Hegedus, L, Connell, J, Wass, JA, Franklyn, J, Weetman, AP, Heward, JM & Gough, S 2009, 'Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).', Human Molecular Genetics. https://doi.org/10.1093/hmg/ddp087

TY - JOUR

T1 - Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).

AU - Brand, Oliver

AU - Barrett, JC

AU - Simmonds, Matthew

AU - Newby, Paul

AU - McCabe, Christopher

AU - Bruce, Christopher

AU - Kysela, Boris

AU - Carr-Smith, Jacqueline

AU - Brix, T

AU - Hunt, PJ

AU - Wiersinga, WM

AU - Hegedus, L

AU - Connell, J

AU - Wass, JA

AU - Franklyn, Jayne

AU - Weetman, AP

AU - Heward, JM

AU - Gough, Stephen

PY - 2009/2/25

Y1 - 2009/2/25

N2 - 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 (TSH), 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 800Kb 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

AB - 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 (TSH), 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 800Kb 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

U2 - 10.1093/hmg/ddp087

DO - 10.1093/hmg/ddp087

M3 - Article

C2 - 19244275

SN - 1460-2083

JO - Human Molecular Genetics

JF - Human Molecular Genetics

ER -

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD).

Abstract

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