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维生素D受体基因多态性及其与印度尼西亚人群白癜风的关联

Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population.

作者信息

Maharani Retno Hesty, Dharmadji Hartati Purbo, Hindritiani Reti, Achdiat Pati Aji, Gunawan Hendra, Dwiyana Reiva Farah

机构信息

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin General Hospital, Bandung, Indonesia.

出版信息

Appl Clin Genet. 2023 Dec 21;16:225-232. doi: 10.2147/TACG.S435016. eCollection 2023.

Abstract

INTRODUCTION

Vitiligo is an acquired depigmenting skin disorder due to the loss of melanocyte function in the epidermis and hair follicles. The pathogenesis of vitiligo is multifactorial, with genetics being a predisposing factor. Previous studies had varying results regarding whether or not polymorphisms of vitamin D receptor () gene are associated with the risk of vitiligo in specific populations. This study investigated the association between three frequently analyzed gene polymorphisms () and susceptibility to vitiligo in Indonesian population.

METHODS

Thirty-four vitiligo patients and 34 age- and sex-matched healthy subjects aged ≥18 years old were recruited in the Dermatology and Venereology Outpatient Clinic of Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Genomic deoxyribonucleic acid (DNA) was extracted from the peripheral blood using a DNA isolation kit. gene polymorphisms () were investigated using the polymerase chain reaction-restriction-fragment length polymorphism method. The differences of genotype distributions and allele frequencies were statistically compared between case and control groups using Chi-square test.

RESULTS

gene polymorphisms were identified in 68 participants, consisting of Aa (n = 14), aa (n = 20), Bb (n = 15), bb (n = 19), and TT (n = 34) genotypes in the case group. In the control group, Aa (n = 6), aa (n = 28), Bb (n = 17), bb (n = 17), and TT (n = 34) genotypes were identified. However, only subjects with Aa genotype polymorphism had a 3.267-fold increased risk of developing vitiligo.

CONCLUSION

This study showed that Aa genotype polymorphism of the gene increases the risk of vitiligo in Indonesian population.

摘要

引言

白癜风是一种后天性色素脱失性皮肤病,由表皮和毛囊中黑素细胞功能丧失所致。白癜风的发病机制是多因素的,遗传是一个易感因素。先前的研究对于维生素D受体(VDR)基因多态性是否与特定人群患白癜风的风险相关存在不同结果。本研究调查了三个经常分析的VDR基因多态性(FokI、TaqI和ApaI)与印度尼西亚人群白癜风易感性之间的关联。

方法

在印度尼西亚万隆哈桑·萨迪金综合医院皮肤科和性病门诊招募了34例白癜风患者和34例年龄及性别匹配的≥18岁健康受试者。使用DNA分离试剂盒从外周血中提取基因组脱氧核糖核酸(DNA)。采用聚合酶链反应-限制性片段长度多态性方法研究VDR基因多态性(FokI、TaqI和ApaI)。使用卡方检验对病例组和对照组之间的基因型分布和等位基因频率差异进行统计学比较。

结果

在68名参与者中鉴定出VDR基因多态性,病例组中有Aa(n = 14)、aa(n = 20)、Bb(n = 15)、bb(n = 19)和TT(n = 34)基因型。在对照组中,鉴定出Aa(n = 6)、aa(n = 28)、Bb(n = 17)、bb(n = 17)和TT(n = 34)基因型。然而,只有具有VDR Aa基因型多态性的受试者患白癜风的风险增加了3.267倍。

结论

本研究表明,VDR基因的Aa基因型多态性增加了印度尼西亚人群患白癜风的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a91/10749542/3dafef538a2b/TACG-16-225-g0001.jpg

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