Article
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.
American journal of human genetics - 1 Oct 2005
Carlton Victoria E H, Hu Xiaolan, Chokkalingam Anand P, Schrodi Steven J, Brandon Rhonda, Alexander Heather C, Chang Monica, Catanese Joseph J, Leong Diane U, Ardlie Kristin G, Kastner Daniel L, Seldin Michael F, Criswell Lindsey A, Gregersen Peter K, Beasley Ellen, Thomson Glenys, Amos Christopher I, Begovich Ann B
Abstract excerpt
The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene, PTPN22, has been associated with multiple autoimmune diseases, including rheumatoid arthritis (RA). These genetic data, combined with biochemical evidence that this SNP affects PTPN22 function, suggest that this phosphatase is a key regulator of autoimmunity. To...
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