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银屑病发病与基因多态性的相关性研究。

Association between Psoriasis Disease and Gene Polymorphisms.

机构信息

Department of Medical Genetics, Zonguldak Bulent Ecevit University, Zonguldak, Turkey.

Department of Dermatology, Memorial Ankara Hospital, Ankara, Turkey.

出版信息

Immunol Invest. 2022 Aug;51(6):1772-1784. doi: 10.1080/08820139.2022.2036187. Epub 2022 Feb 4.

DOI:10.1080/08820139.2022.2036187
PMID:35118914
Abstract

Psoriasis is one of the most common chronic immune-mediated skin diseases, having a strong genetic predisposition. Psoriasis is a T-cell-mediated disease with a mixed Th1/Th17 cytokines environment. IL-23/IL-17 axis hyperactivation is the primary pathogenesis. Psoriasis lesions have been known to exhibit high and IFN-stimulated genes (ISGs) expression, which appears to be driven by Th17 cells. However, the role and mechanism of IFN-λs in psoriasis disease remains unknown. The study aimed to investigate the relationship between and gene polymorphisms with psoriasis disease and clinical severity. We performed single-nucleotide polymorphisms (SNPs) of rs12979860 ( C/T), rs8099917 ( T/G), and rs30461 ( T/C) in 140 patients with psoriasis disease and 159 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The genotype and allele frequency distributions of the rs12979860 ( C/T) and rs30461 ( T/C) polymorphisms were similar in the patient and control groups and were not statistically significant. The TG genotype of rs8099917 was statistically significantly different in patients from both groups. The TG genotype increased the risk of disease1.9-fold. The G allele may be associated with the pathogenesis of psoriasis.

摘要

银屑病是最常见的慢性免疫介导性皮肤病之一,具有很强的遗传易感性。银屑病是一种 T 细胞介导的疾病,具有混合的 Th1/Th17 细胞因子环境。IL-23/IL-17 轴的过度激活是主要的发病机制。已知银屑病皮损具有高表达和 IFN 刺激基因(ISGs),这似乎是由 Th17 细胞驱动的。然而,IFN-λs 在银屑病发病机制中的作用和机制仍不清楚。本研究旨在探讨 基因多态性与银屑病疾病和临床严重程度的关系。我们采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对 140 例银屑病患者和 159 例健康对照者的 rs12979860(C/T)、rs8099917(T/G)和 rs30461(T/C)单核苷酸多态性(SNP)进行了检测。rs12979860(C/T)和 rs30461(T/C)多态性的基因型和等位基因频率分布在患者和对照组之间无统计学差异。rs8099917 的 TG 基因型在两组患者中均有统计学差异。TG 基因型使疾病的风险增加 1.9 倍。G 等位基因可能与银屑病的发病机制有关。

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