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. 2004 Sep;75(3):504-7.
doi: 10.1086/423790. Epub 2004 Jul 23.

Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Chieko Kyogoku  1 , Carl D Langefeld, Ward A Ortmann, Annette Lee, Scott Selby, Victoria E H Carlton, Monica Chang, Paula Ramos, Emily C Baechler, Franak M Batliwalla, Jill Novitzke, Adrienne H Williams, Clarence Gillett, Peter Rodine, Robert R Graham, Kristin G Ardlie, Patrick M Gaffney, Kathy L Moser, Michelle Petri, Ann B Begovich, Peter K Gregersen, Timothy W Behrens
Affiliations

Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Chieko Kyogoku et al. Am J Hum Genet. 2004 Sep.

Abstract

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 risk of SLE (odds ratio [OR]=1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR=4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

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References

Electronic-Database Information

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