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

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,...

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Veröffentlicht in:	European journal of human genetics : EJHG 2005-11, Vol.13 (11), p.1223-1230
Hauptverfasser:	DECHAIRO, Bryan M, ZABANEH, Delilah, WIERSINGA, Wilmar M, HEGEDUS, Laszlo, BRIX, Thomas, ROBINSON, Bruce G, HUNT, Penny J, WEETMAN, Anthony P, CAREY, Alisoun H, GOUGH, Stephen C, COLLINS, Joanne, BRAND, Oliver, DAWSON, Gary J, GREEN, Angie P, MACKAY, Ian, FRANKLYN, Jayne A, CONNELL, John M, WASS, John A. H
Format:	Artikel
Sprache:	eng
Schlagworte:	Autoantibodies Biological and medical sciences Biomedical research Case-Control Studies Chromosome Mapping Endocrinology Endocrinopathies European Continental Ancestry Group - genetics General aspects. Genetic counseling Genes Genetics Genetics, Population Genomes Genotyping Graves Disease - epidemiology Graves Disease - genetics Graves' disease Haplotypes Hospitals Humans Hyperthyroidism Hypothyroidism Linkage Disequilibrium Medical genetics Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms Phenotypes Polymorphism Polymorphism, Single Nucleotide - genetics Population Receptors, Thyrotropin - genetics Single-nucleotide polymorphism Studies Thyroid Thyroid diseases Thyroid-stimulating hormone receptors Thyroid. Thyroid axis (diseases) United Kingdom - epidemiology White people
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Zusammenfassung:	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
ISSN:	1018-4813 1476-5438
DOI:	10.1038/sj.ejhg.5201485