Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE - PubMed (original) (raw)

doi: 10.1086/423790. Epub 2004 Jul 23.

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.

PubMed Disclaimer

Similar articles

Cited by

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SLE) - PubMed

References

    1. Arbuckle MR, McClain MT, Rubertone MV, Scofield RH, Dennis GJ, James JA, Harley JB (2003) Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Engl J Med 349:1526–153310.1056/NEJMoa021933 - DOI - PubMed
    1. Begovich AB, Carlton VEH, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, et al (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330–33715208781 - DOI - PMC - PubMed
    1. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36:337–33810.1038/ng1323 - DOI - PubMed
    1. Cloutier JF, Veillette A (1996) Association of inhibitory tyrosine protein kinase p50csk with protein tyrosine phosphatase PEP in T cells and other hemopoietic cells. EMBO J 15:4909–4918 - PMC - PubMed
    1. ——— (1999) Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 189:111–12110.1084/jem.189.1.111 - DOI - PMC - PubMed

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources