Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo.

IF 3.4 Q2 MEDICINE, RESEARCH & EXPERIMENTAL Biomarker Insights Pub Date : 2020-01-31 eCollection Date: 2020-01-01 DOI:10.1177/1177271920903038

Ghaleb Bin Huraib, Fahad Al Harthi, Misbahul Arfin, Abdulrahman Aljamal, Abdulqader Saeed Alrawi, Abdulrahman Al-Asmari

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引用次数: 3

Abstract

The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with susceptibility to autoimmune diseases. The functional polymorphism in PTPN22 at 1857 is a strong risk factor for vitiligo susceptibility in Europeans; however, controversy exits in other populations. Present study was aimed to determine whether the PTPN22 C1857T polymorphism confers susceptibility to vitiligo in Saudi Arabians. Genomic DNA was extracted and amplified using tetra primer amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) method. The frequencies of allele T and genotype CT of PTPN22 C1858T polymorphism were significantly higher, whereas those of allele C and genotype CC were lower in patients as compared with controls (P < 0.0001). The genotype TT was absent in both the patients and controls. It is concluded that PTPN22 C1858T polymorphism is strongly associated with vitiligo susceptibility. However, additional studies are warranted using large number of samples from different ethnicities and geographical areas.

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蛋白酪氨酸磷酸酶非受体22 (PTPN22)基因功能多态性与白癜风的关系

蛋白酪氨酸磷酸酶非受体22 (PTPN22)与自身免疫性疾病的易感性相关。1857年PTPN22的功能多态性是欧洲人白癜风易感性的一个重要危险因素;然而，在其他人群中存在争议。本研究旨在确定PTPN22 C1857T多态性是否与沙特阿拉伯人对白癜风的易感性有关。采用四引物扩增-难解突变系统聚合酶链反应(ARMS-PCR)法提取基因组DNA并进行扩增。PTPN22 C1858T多态性的等位基因T和基因型CT的频率显著高于对照组，而等位基因C和基因型CC的频率显著低于对照组(P < 0.0001)。TT基因型在患者和对照组中均不存在。由此可见，PTPN22 C1858T多态性与白癜风易感性密切相关。然而，需要使用来自不同种族和地理区域的大量样本进行进一步的研究。

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