Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE
详细信息 查看全文
- 作者：Chieko Kyogoku ; 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
- 刊名：The American Journal of Human Genetics
- 出版年：2004
- 出版时间：September 2004
- 年：2004
- 卷：75
- 期：3
- 页码：504-507
- 全文大小：74 K
文摘
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.