Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China; Department of Genetics, Qiqihar Medical University, Qiqihar 161000, China.
Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
Gene. 2019 Jan 10;681:73-79. doi: 10.1016/j.gene.2018.09.047. Epub 2018 Sep 26.
Psoriasis is a chronic immune-mediated disease with a complex etiology involving various genetic and immunological factors as well as environmental factors. Psoriasis is thought to be mediated by T-cells polarized to a Th17 fate. PTPN2 encodes the T-cell protein tyrosine phosphatase, which acts as a negative regulator of the JAK/STAT signaling pathways downstream of cytokines and plays a prominent role in T-cell activation, signaling and/or effector function. To evaluate the association between PTPN2 gene polymorphisms and psoriasis in the Northeastern Chinese population. A case-control study was conducted, and 398 patients with psoriasis and 397 healthy controls were genotyped for thirteen genetic polymorphisms in PTPN2. Allele analysis revealed that rs2847297, rs657555 and rs482160 polymorphisms were significantly associated with psoriasis (p = 0.0018, p = 0.0017 and p = 0.0086, respectively). Genotype analysis also revealed that these polymorphisms were significantly associated with psoriasis under different models (codominant, dominant and recessive models) (p < 0.05). In this study, three haplotypes (H1, H7 and H11) were also found to be associated with psoriasis (p = 0.0015, p = 0.0094, and p = 0.0124, respectively). These results indicate that PTPN2 genetic polymorphisms are associated with psoriasis in the Northeastern Chinese population.
银屑病是一种慢性免疫介导的疾病，其病因复杂，涉及多种遗传和免疫因素以及环境因素。银屑病被认为是由极化到 Th17 命运的 T 细胞介导的。PTPN2 编码 T 细胞蛋白酪氨酸磷酸酶，它作为细胞因子下游 JAK/STAT 信号通路的负调节剂，在 T 细胞激活、信号转导和/或效应功能中发挥重要作用。为了评估 PTPN2 基因多态性与中国东北地区银屑病的关系。进行了病例对照研究，对 398 例银屑病患者和 397 例健康对照者进行了 PTPN2 基因 13 个遗传多态性的基因分型。等位基因分析显示，rs2847297、rs657555 和 rs482160 多态性与银屑病显著相关（p=0.0018、p=0.0017 和 p=0.0086）。基因型分析还显示，这些多态性在不同模型（共显性、显性和隐性模型）下与银屑病显著相关（p<0.05）。在这项研究中，还发现三个单倍型（H1、H7 和 H11）与银屑病相关（p=0.0015、p=0.0094 和 p=0.0124）。这些结果表明，PTPN2 基因多态性与中国东北地区银屑病有关。
