Universidad Nacional de Colombia, Bogota, Colombia.
Clin Exp Rheumatol. 2012 Jul-Aug;30(4):520-4. Epub 2012 Aug 29.
C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. This work has investigated the possible association between PTPN22 C1858T (rs2476601) polymorphism and rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) in a Colombian population.
A case-control study included 1,042 samples from 413 RA, 94 SLE and 101 SSc patients and 434 healthy controls. The TaqMan allele discrimination assay was used for genotyping.
The case-control study provided robust evidence of association between allele 1858T and RA (p=5E-05), as well as between 1858T and SLE (p=0.004). These observations were confirmed for both diseases by meta-analysis (p=2E-04, pooled OR 1.9; 1.3-2.7 95% CI for RA; p<0.0001, pooled OR 2.8, 1.8-4.5 95% CI for SLE). No significant association was observed between 1858T and SSc (p=0.98, OR 1.11, 0.46-2.65 95% CI).
The study suggested that the PTPN22 1858T variant influences RA and SLE genetic background but not that of SSc in the Colombian population.
编码 Lyp-PTPN22（一种负向调节 T 细胞激活的蛋白磷酸酶）的 PTPN22 基因中的 C1858T 单核苷酸多态性与自身免疫有关。本研究调查了 PTPN22 C1858T（rs2476601）多态性与哥伦比亚人群类风湿关节炎（RA）、系统性红斑狼疮（SLE）和系统性硬皮病（SSc）之间的可能关联。
一项病例对照研究纳入了 413 例 RA、94 例 SLE 和 101 例 SSc 患者及 434 名健康对照者的 1042 份样本。采用 TaqMan 等位基因鉴别检测法进行基因分型。
病例对照研究为等位基因 1858T 与 RA（p=5E-05）之间以及 1858T 与 SLE（p=0.004）之间的关联提供了有力证据。通过荟萃分析，这两种疾病的观察结果均得到了证实（RA 的 p=2E-04，合并 OR 1.9；95%CI 为 1.3-2.7；SLE 的 p<0.0001，合并 OR 2.8，95%CI 为 1.8-4.5）。1858T 与 SSc 之间无显著相关性（p=0.98，OR 1.11，95%CI 为 0.46-2.65）。
本研究表明，PTPN22 1858T 变异影响 RA 和 SLE 的遗传背景，但对哥伦比亚人群 SSc 的遗传背景无影响。
