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

Chieko Kyogoku, 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. BegovichPeter K. Gregersen, Timothy W. Behrens

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)504-507
Number of pages4
JournalAmerican journal of human genetics
Volume75
Issue number3
DOIs
StatePublished - Sep 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kyogoku, C., Langefeld, C. D., Ortmann, W. A., Lee, A., Selby, S., Carlton, V. E. H., Chang, M., Ramos, P., Baechler, E. C., Batliwalla, F. M., Novitzke, J., Williams, A. H., Gillett, C., Rodine, P., Graham, R. R., Ardlie, K. G., Gaffney, P. M., Moser, K. L., Petri, M., ... Behrens, T. W. (2004). Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. American journal of human genetics, 75(3), 504-507. https://doi.org/10.1086/423790