Biomaterial Database

T cell receptor beta chain gene polymorphisms in Graves' disease. 1993

A P Pickerill, and P F Watson, and N Tandon, and A P Weetman

Department of Medicine, University of Sheffield, Northern General Hospital, UK.

Graves' disease, or subgroups of such patients with thyroglobulin antibodies or HLA-DR3, have been associated with a restriction fragment length polymorphism of the T cell receptor beta chain constant region gene but not all studies are in agreement. We have examined 58 patients with Graves' disease and found no abnormal distribution of this polymorphism compared to 33 controls. There was also no significant association with the presence of thyroglobulin antibodies or HLA-DR3, even when the results were pooled with previously collected data (N = 90 patients with TG antibody results and N = 128 patients with HLA-DR types). We also found no abnormal distribution of three polymorphisms of the T cell receptor beta chain variable region genes, using probes which span over 600 kb of this complex. These results argue against an association of these allelic variations of the T cell receptor beta chain with Graves' disease.

UI	MeSH Term	Description	Entries
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006111	Graves Disease	A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).	Basedow's Disease,Exophthalmic Goiter,Goiter, Exophthalmic,Graves' Disease,Basedow Disease,Hyperthyroidism, Autoimmune,Basedows Disease,Disease, Basedow,Disease, Basedow's,Disease, Graves,Disease, Graves',Exophthalmic Goiters,Goiters, Exophthalmic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D000917	Antibody Formation	The production of ANTIBODIES by proliferating and differentiated B-LYMPHOCYTES under stimulation by ANTIGENS.	Antibody Production,Antibody Response,Antibody Responses,Formation, Antibody,Production, Antibody,Response, Antibody,Responses, Antibody
D001323	Autoantibodies	Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.	Autoantibody
D012189	Retrospective Studies	Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.	Retrospective Study,Studies, Retrospective,Study, Retrospective
D013954	Thyroglobulin