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

First Author	Ueda H	Year	2003
Journal	Nature	Volume	423
Issue	6939	Pages	506-11
PubMed ID	12724780	Mgi Jnum	J:83656
Mgi Id	MGI:2662816	Doi	10.1038/nature01621
Citation	Ueda H, et al. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423(6939):506-11

abstractText

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 mapped to a non-coding 6.1 kb 3' region of CTLA4, the common allelic variation of which was correlated with lower messenger RNA levels of the soluble alternative splice form of CTLA4. In the mouse model of type 1 diabetes, susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain. Genetic mapping of variants conferring a small disease risk can identify pathways in complex disorders, as exemplified by our discovery of inherited, quantitative alterations of CTLA4 contributing to autoimmune tissue destruction.

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

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