Medline ® Abstract for Reference 87
of 'HLA and other susceptibility genes in rheumatoid arthritis'
87
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Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
AU
Vang T, Congia M, Macis MD, Musumeci L, OrrúV, Zavattari P, Nika K, Tautz L, Taskén K, Cucca F, Mustelin T, Bottini N
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Nat Genet. 2005;37(12):1317. Epub 2005 Nov 6.
A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.
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Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.
PMID