Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China; Department of Dermatology, North China University of Science and Technology Affiliated Hospital, Tangshan, China.
Department of Dermatology, North China University of Science and Technology Affiliated Hospital, Tangshan, China; School of Public Health, North China University of Science and Technology, Tangshan, China; Health Science Center, North China University of Science and Technology, Tangshan, China.
J Invest Dermatol. 2024 Aug;144(8):1843-1849.e1. doi: 10.1016/j.jid.2024.01.010. Epub 2024 Jan 28.
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.
白癜风是一种自身免疫性疾病，涉及黑色素细胞的丧失。尽管有几项遗传研究已经证实遗传因素起着重要作用，但它的发病机制仍不完全清楚。在这项研究中，进行了一项全基因组荟萃分析，以寻找更多的白癜风易感变异。Tang 等人之前对队列 I（1117 例白癜风病例和 1701 例健康对照）进行了全基因组关联研究，我们在本研究中对队列 II（3323 例白癜风病例和 7186 例健康对照）进行了全基因组关联研究，并对结果进行了全基因组荟萃分析和连锁不平衡分析。据我们所知，我们确定了 11 个以前未报道过的易感变异，其中 6 个变异位于内含子区域，其余 5 个变异位于基因间区域。此外，多基因风险评分的结果表明，针对目标数据的最佳评估效果是在基础数据的显著 SNV 中。白癜风的易感基因主要富集在与免疫相关的功能和途径中。易感变异扩大了与白癜风相关的遗传因素的作用。风险基因的生物信息学分析为白癜风的发病机制提供了进一步的见解。
