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蛋白酪氨酸磷酸酶非受体型22的R620W多态性在克里特岛基因同质人群中不会导致银屑病易感性。

The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete.

作者信息

Zervou Maria I, Castro-Giner Francesc, Sidiropoulos Prodromos, Boumpas Dimitrios T, Tosca Androniki D, Krueger-Krasagakis Sabine

机构信息

Laboratory of Dermatology, Department of Medicine, University of Crete, Heraklion, Greece.

出版信息

Genet Test Mol Biomarkers. 2010 Feb;14(1):107-11. doi: 10.1089/gtmb.2009.0130.

Abstract

Recent whole-genome and candidate-gene association studies in patients with psoriasis (PS) have identified a number of single-nucleotide polymorphisms (SNPs) that predispose to disease with moderate risk. Predisposition to PS is known to be affected by genetic variation in human leukocyte antigen-C as well as other non-human leukocyte antigen genes. We recently reported for the first time as a PS-associated SNP the signal transducer and activator of transcription-4 (STAT4) rs7574865 polymorphism, which is also associated with several autoimmune diseases. The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene encoding the lymphoid-specific tyrosine phosphatase, which is known to be associated with various autoimmune diseases, also confers increased risk for PS in the genetic homogeneous population of Crete. A case-control study was performed with 173 PS patients consecutively recruited and 348 healthy controls, all of them from the island of Crete. We found that the mutated T allele of the PTPN22 1858T SNP was more common in control individuals than in patients with PS (odds ratio = 0.39, 95% confidence interval = 0.11-1.04, p = 0.09). No considerable difference was observed in terms of sex, age of onset, or clinical presentation of psoriatic arthritis. Our results provide evidence that the PTPN22 1858T allele is not a susceptibility factor for PS in the Cretan population.

摘要

近期针对银屑病(PS)患者开展的全基因组和候选基因关联研究已鉴定出一些具有中度风险的单核苷酸多态性(SNP),这些多态性易引发该病。已知PS的易感性受人类白细胞抗原-C以及其他非人类白细胞抗原基因的遗传变异影响。我们最近首次报道信号转导及转录激活因子4(STAT4)rs7574865多态性为与PS相关的SNP,该多态性也与多种自身免疫性疾病相关。本研究的目的是评估编码淋巴特异性酪氨酸磷酸酶的蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因的功能性R620W多态性(已知其与多种自身免疫性疾病相关)在克里特岛基因同质人群中是否也会增加患PS的风险。我们对173例连续招募的PS患者和348例健康对照进行了病例对照研究,所有研究对象均来自克里特岛。我们发现,PTPN22 1858T SNP的突变型T等位基因在对照个体中比在PS患者中更常见(优势比 = 0.39,95%置信区间 = 0.11 - 1.04,p = 0.09)。在银屑病关节炎的性别、发病年龄或临床表现方面未观察到显著差异。我们的结果表明,PTPN22 1858T等位基因不是克里特岛人群患PS的易感因素。

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