Autoimmunity in thyroid disease.
The autoimmune thyroid diseases, Graves' disease and autoimmune hypothyroidism, represent the two ends of a disease spectrum where an immune response is directed against the thyroid gland. In Graves' disease, antibodies directed against the thyrotropin receptor (TSH-R) lead to the development of glandular overactivity, while in autoimmune hypothyroidism, cell-mediated and humoral thyroid injury leads to destruction of thyroid tissue and thyroid hormone deficiency. The mechanisms by which these diseases develop are unknown, although it is likely that both diseases occur in genetically susceptible individuals exposed to a permissive environment. A number of environmental factors have been postulated to be involved in the development of autoimmune thyroid disease. There is, however, no direct evidence to support clear causality. Susceptibility loci within immune response genes have been identified although a significant component of the genetic predisposition to disease remains unknown. This review will focus on some of the studies designed to identify genes that confer susceptibility to the autoimmune disease process within the thyroid gland.
Collins
Joanne
J
Department of Medicine, University of Birmingham, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK.
Gough
Stephen
S
D000069594:Abatacept; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D060908:CTLA-4 Antigen; D002877:Chromosomes, Human / Q000235:genetics; D004200:Diseases in Twins; D004781:Environmental Exposure; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics / Q000276:immunology; D006681:HLA-D Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D018796:Immunoconjugates; D018828:Immunoglobulins, Thyroid-Stimulating / Q000276:immunology; D053590:Interleukin 1 Receptor Antagonist Protein; D008213:Lymphocyte Activation; D011989:Receptors, Thyrotropin / Q000276:immunology; D012795:Sialoglycoproteins / Q000235:genetics; D013959:Thyroid Diseases / Q000235:genetics / Q000276:immunology*; D013967:Thyroiditis, Autoimmune / Q000235:genetics / Q000276:immunology
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D006681:HLA-D Antigens; C507763:IL1RN protein, human; D018796:Immunoconjugates; D018828:Immunoglobulins, Thyroid-Stimulating; D053590:Interleukin 1 Receptor Antagonist Protein; D011989:Receptors, Thyrotropin; D012795:Sialoglycoproteins; D000069594:Abatacept