Genome-Wide Meta-Analysis Identifies 11 Susceptibility Variants of Vitiligo in the Chinese Han Population

IF 8.3 2区材料科学 Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY

ACS Applied Materials & Interfaces Pub Date : 2024-08-01 DOI:10.1016/j.jid.2024.01.010

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引用次数: 0

Abstract

Vitiligo is an autoimmune disease involving loss of melanocytes. Although several genetic studies have confirmed that genetic factors play an important role, its pathogenesis remains incompletely characterized. In this study, a genome-wide meta-analysis was conducted to search for more susceptibility variants of vitiligo. Tang et al performed a GWAS for cohort I (1117 vitiligo cases and 1701 healthy controls) previously, and we conducted a GWAS for cohort II (3323 vitiligo cases and 7186 healthy controls) in this study, with the results subjected to a genome-wide meta-analysis and linkage disequilibrium analysis. We identify, to our knowledge, 11 previously unreported susceptibility variants, of which 6 variants are located in the intronic regions, and the remaining 5 variants are located within intergenic regions between genes. In addition, the results of polygenic risk score show that the best evaluated effect for target data is among significant SNVs of the base data. The susceptibility genes of vitiligo are mainly enriched in the immune-related functions and pathways. The susceptibility variants expand the role of genetic factors associated with vitiligo. The bioinformatics analysis for risk genes provides further insight into the pathogenesis of vitiligo.

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全基因组荟萃分析在中国汉族人群中发现11种白癜风易感变异。

白癜风是一种涉及黑色素细胞脱失的自身免疫性疾病。虽然多项遗传学研究证实遗传因素在其中发挥了重要作用，但其发病机制仍未完全定性。本研究进行了一项全基因组荟萃分析（GWMA），以寻找更多的白癜风易感变体。Tang等人曾对队列I（1,117例白癜风病例和1,701例健康对照）进行了全基因组关联研究（GWAS），我们在本研究中对队列II（3,323例白癜风病例和7,186例健康对照）进行了GWAS，并对结果进行了GWMA和连锁不平衡（LD）分析。据我们所知，我们发现了 11 个以前从未报道过的易感性变异，其中 6 个变异位于内含子区，其余 5 个变异位于基因之间的基因间区。此外，PRS 的结果表明，目标数据的最佳评估效果出现在基础数据的重要 SNPs 中。白癜风的易感基因主要富集在与免疫相关的功能和通路中。易感变异扩大了与白癜风相关的遗传因素的作用。对风险基因的生物信息学分析进一步揭示了白癜风的发病机制。

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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来源期刊

ACS Applied Materials & Interfaces 工程技术-材料科学：综合

CiteScore

16.00

自引率

6.30%

发文量

4978

审稿时长

1.8 months

期刊介绍： ACS Applied Materials & Interfaces is a leading interdisciplinary journal that brings together chemists, engineers, physicists, and biologists to explore the development and utilization of newly-discovered materials and interfacial processes for specific applications. Our journal has experienced remarkable growth since its establishment in 2009, both in terms of the number of articles published and the impact of the research showcased. We are proud to foster a truly global community, with the majority of published articles originating from outside the United States, reflecting the rapid growth of applied research worldwide.