Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
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DOI：
10.1086/423790
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发表时间：
2004-09-01
影响因子：
9.8
通讯作者：
Behrens, TW
中科院分区：
文献类型：
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作者：
Kyogoku, C;Langefeld, CD;Behrens, TW
我们对PTPN22 R620W多态性的525个独立的北美白人个体具有全身性红斑狼疮（SLE），并将结果与来自1,961个白人对照个体产生的数据进行了比较。 R620W SNP与SLE相关（基因型P = .00009），估计在SLE病例中估计次要（T）等位基因频率为12.67％，对照组为8.64％。 T等位基因的一份副本（W620）增加了SLE的风险（优势比[OR] = 1.37; 95％置信区间[CI] 1.07-1.75）和两个等位基因的副本多两倍以上（OR = 4.37） ; 95％CI 1.98-9.65）。最近的证据表明该SNP与1型糖尿病和类风湿关节炎的关联，这些数据提供了令人信服的证据，表明PTPN22在调节免疫系统和自身免疫发展方面起着至关重要的作用。
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.