The Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) R620W Functional Polymorphism in Psoriasis.

IF 1.9 Q2 ORTHOPEDICS Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders Pub Date : 2018-01-11 eCollection Date: 2018-01-01 DOI:10.1177/1179544117751434

Ghaleb Bin Huraib, Fahad Al Harthi, Misbahul Arfin, Sadaf Rizvi, Abdulrahaman Al-Asmari

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引用次数: 9

Abstract

Background: Psoriasis is a complex autoimmune disease caused by the interaction of genetic and environmental factors. PTPN22 gene polymorphism has been reported to affect psoriasis susceptibility; however, no data are available for Middle Eastern populations.

Objective: The aim of this study was to investigate the association of PTPN22 (1858C/T) R620W polymorphism with psoriasis in a Saudi cohort.

Methods: Saudi subjects (n = 306) including patients with psoriasis (n = 106) and matched controls (n = 200) were studied for PTPN22 variants using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The frequencies of alleles and genotypes of PTPN22 (1858C/T) polymorphism were compared between patients and controls.

Results: The frequency of CT genotype of PTPN22 (1858C/T) polymorphism was significantly higher, whereas that of CC genotype was lower in patients with psoriasis than in controls (P < .001, relative risk [RR] = 7.151). The homozygous genotype TT was absent in both the patients and healthy controls. The frequency of allele T encoding tryptophan (W) was significantly increased (P < .001, RR = 5.76), whereas that of allele C encoding arginine (R) decreased in psoriasis cases as compared with controls (P < .001, RR = 0.173) indicating that individuals carrying allele T are more susceptible to psoriasis than noncarriers.

Conclusions: PTPN22 (1858C/T) polymorphism is positively associated with susceptibility of psoriasis in Saudis and can be developed as biomarker for evaluating psoriasis risk. However, further studies on PTPN22 polymorphism in larger samples from different geographical areas and ethnicity are warranted.

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蛋白酪氨酸磷酸酶非受体22 (PTPN22) R620W在银屑病中的功能多态性

背景:银屑病是遗传和环境因素共同作用下的一种复杂的自身免疫性疾病。PTPN22基因多态性与银屑病易感性有关;然而，没有关于中东人口的数据。目的:本研究的目的是研究沙特队列中PTPN22 (1858C/T) R620W多态性与牛皮癣的关系。方法:采用四引物扩增难解突变系统-聚合酶链反应法对沙特受试者(306例)进行PTPN22变异检测，其中包括牛皮癣患者(106例)和匹配对照(200例)。比较两组患者PTPN22 (1858C/T)多态性的等位基因频率和基因型。结果:银屑病患者PTPN22 (1858C/T)基因型的CT基因型频率显著高于对照组，而CC基因型的频率明显低于对照组(P P P)结论:PTPN22 (1858C/T)基因型多态性与银屑病易感性呈正相关，可作为评价银屑病风险的生物标志物。然而，PTPN22多态性的进一步研究需要来自不同地理区域和种族的更大样本。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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