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The emerging role of the CTLA-4 gene in autoimmune endocrinopathies

Lookup NU author(s): Dr Bijayeswar Vaidya, Professor Simon PearceORCiD


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It is thought that the majority of autoimmune endocrinopathies, including Graves' disease, autoimmune hypothyroidism, type 1 diabetes mellitus and autoimmune Addison's disease (sporadic and as well as autoimmune polyendocrinopathy syndrome type 2) are inherited as complex genetic traits. Multiple genetic and environmental factors interact with each other to confer susceptibility to these disorders. In recent years there have been considerable efforts towards defining susceptibility genes for complex traits. These investigations have shown, with increasing evidence, that the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene is an important susceptibility locus for autoimmune endocrinopathies and other autoimmune disorders. Here we review the genetic and functional analyses of the CTLA-4 locus in autoimmune endocrinopathies, and discuss the recent efforts in fine-mapping this locus. © 2004 Society of the European Journal of Endocrinology.

Publication metadata

Author(s): Vaidya B, Pearce S

Publication type: Review

Publication status: Published

Journal: European Journal of Endocrinology

Year: 2004

Volume: 150

Issue: 5

Pages: 619-626

ISSN (print): 0804-4643

ISSN (electronic): 1479-683X


DOI: 10.1530/eje.0.1500619

PubMed id: 15132716