Article
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
American journal of human genetics - 1 Sept 2004
Kyogoku Chieko, Langefeld Carl D, Ortmann Ward A, Lee Annette, Selby Scott, Carlton Victoria E H, Chang Monica, Ramos Paula, Baechler Emily C, Batliwalla Franak M, Novitzke Jill, Williams Adrienne H, Gillett Clarence, Rodine Peter, Graham Robert R, Ardlie Kristin G, Gaffney Patrick M, Moser Kathy L, Petri Michelle, Begovich Ann B, Gregersen Peter K, Behrens Timothy W
Abstract excerpt
We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P=.00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases...
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