Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.

Journal article

Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of the cytotoxic T lymphocyte antigen 4 gene (CTLA4)--which encodes a vital negative regulatory molecule of the immune system--as candidates for primary determinants of risk of the common autoimmune disorders Graves' disease, autoimmune hypothyroidism and type 1 diabetes. In humans, disease susceptibility was ...

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Authors: Ueda, H; Howson, J; Esposito, L; Heward, J; Snook, H

• Journal: Nature
• Volume: 423
• Issue: 6939
• Pages: 506-511
• Publication date: 2003-05-01
• DOI: 10.1038/nature01621
• EISSN: 1476-4687
• ISSN: 0028-0836
• Language: English
• Keywords: Protein Isoforms; Animals; Graves Disease; Mice; Base Sequence; Hypothyroidism; Disease Models, Animal; Polymorphism, Single Nucleotide; Antigens, Differentiation; Humans; T-Lymphocytes; Immunoconjugates; Autoimmune Diseases; Alternative Splicing; Diabetes Mellitus, Type 1; Genetic Predisposition to Disease; CTLA-4 Antigen; Antigens, CD; Genotype