Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete.
Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete.
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DOI：
10.1177/0961203310392423
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发表时间：
2011-04
期刊：
影响因子：
2.6
通讯作者：
Goulielmos GN
中科院分区：
文献类型：
--
作者：
Eliopoulos E;Zervou MI;Andreou A;Dimopoulou K;Cosmidis N;Voloudakis G;Mysirlaki H;Vazgiourakis V;Sidiropoulos P;Niewold TB;Boumpas DT;Goulielmos GN
自身免疫性疾病影响了大约5%的人群，但仍有许多工作要做，以确定这些疾病背后的遗传风险因素和致病机制。越来越多的证据表明，常见的遗传因素可能是多种自身免疫性疾病的易感因素。系统性红斑狼疮(SLE)和类风湿关节炎(RA)是具有多个易感基因的复杂自身免疫性疾病。蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因的R620W(C1858T)多态性与多种自身免疫性疾病的易感性有关，PTPN22是PTPs中负向调节T细胞活化的成员。这项研究的目的是评估PTPN22的C1858T多态是否也增加了克里特岛遗传同质性人群中SLE和RA的风险。发现PTPN22C1858T SNP的T等位基因在SLE患者中较对照组更为常见(优势比[OR]=1.91，95%可信区间[CI]=1.11~3.9，P=0.017)。RA患者与对照组比较，该等位基因频率差异无统计学意义(OR=1.14，95%CI=0.65~1.9，P=0.64)。虽然PTPN22 1858T等位基因在包括克里特岛在内的南欧地区被发现频率降低，但在被研究的人群中发现该等位基因与SLE之间存在关联。
Autoimmune diseases affect approximately 5% of the population, but much work remains to define the genetic risk factors and pathogenic mechanisms underlying these conditions. There is accumulating evidence that common genetic factors might predispose to multiple autoimmune disorders. Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune disorders with multiple susceptibility genes. The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, a member of the PTPs that negatively regulate T-cell activation, has been recently associated with susceptibility to various autoimmune diseases. The aim of this study was to assess whether the C1858T polymorphism of PTPN22 also confers increased risk for SLE and RA in the genetically homogeneous population of Crete. It was found that the minor T allele of the PTPN22 C1858T SNP was more common in SLE patients than in control individuals (odds ratio [OR] = 1.91, 95% confidence interval [CI] = 1.11 to 3.9, p = 0.017). No significant difference was observed in the frequency of this allele when RA patients were compared with controls (OR = 1.14, 95% CI = 0.65 to 1.9, p = 0.64). Although the PTPN22 1858T allele is found at decreased frequency in Southern Europe, including Crete, an association was found between this allele and SLE in the population studied.
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影响因子：
13.6
作者：
Crispín JC;Liossis SN;Kis-Toth K;Lieberman LA;Kyttaris VC;Juang YT;Tsokos GC
通讯作者：
Tsokos GC
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通讯作者：
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通讯作者：
Epplen, JT
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作者：
Orozco, G;Sánchez, E;Martín, J
通讯作者：
Martín, J