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蛋白酪氨酸磷酸酶非受体22(PTPN22)基因功能性多态性与白癜风的关联

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

作者信息

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

机构信息

Medical Services Department for Armed Forces, Riyadh, Saudi Arabia.

Department of Dermatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

出版信息

Biomark Insights. 2020 Jan 31;15:1177271920903038. doi: 10.1177/1177271920903038. eCollection 2020.

Abstract

The is associated with susceptibility to autoimmune diseases. The functional polymorphism in 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 ( < 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.

摘要

这与自身免疫性疾病的易感性有关。PTPN22基因1857位点的功能多态性是欧洲人患白癜风易感性的一个强风险因素;然而,在其他人群中存在争议。本研究旨在确定PTPN22 C1857T多态性是否赋予沙特阿拉伯人患白癜风的易感性。使用四引物扩增阻滞突变系统聚合酶链反应(ARMS-PCR)方法提取并扩增基因组DNA。与对照组相比,患者中PTPN22 C1858T多态性的等位基因T和基因型CT的频率显著更高,而等位基因C和基因型CC的频率更低(P<0.0001)。患者和对照组中均不存在基因型TT。结论是PTPN22 C1858T多态性与白癜风易感性密切相关。然而,有必要使用来自不同种族和地理区域的大量样本进行进一步研究。

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