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Susceptibility to autoimmune insulin-dependent (type 1) diabetes mellitus is determined by a combination of environmental and genetic factors, which include variation in MHC genes on chromosome 6p21 (IDDM1) and the insulin gene on chromosome 11p15 (IDDM2). However, linkage to IDDM1 and IDDM2 cannot explain the clustering of type 1 diabetes in families, and a role for other genes is inferred. In the present report we describe linkage and association of type 1 diabetes to the CTLA-4 gene (cytotoxic T lymphocyte associated-4) on chromosome 2q33 (designated IDDM12). CTLA-4 is a strong candidate gene for T cell-mediated autoimmune disease because it encodes a T cell receptor that mediates T cell apoptosis and is a vital negative regulator of T cell activation. In addition, we provide supporting evidence that CTLA-4 is associated with susceptibility to Graves' disease, another organ-specific autoimmune disease.

Original publication

DOI

10.1093/hmg/5.7.1075

Type

Journal article

Journal

Hum Mol Genet

Publication Date

07/1996

Volume

5

Pages

1075 - 1080

Keywords

Abatacept, Antigens, CD, Antigens, Differentiation, CTLA-4 Antigen, Case-Control Studies, Chromosomes, Human, Pair 2, Diabetes Mellitus, Type 1, Exons, Genetic Linkage, Genetic Predisposition to Disease, Graves Disease, Humans, Immunoconjugates, Nuclear Family, Point Mutation, Polymorphism, Genetic