Genome-wide meta-analysis identifies 11 susceptibility variants of vitiligo in the Chinese Han population

Vitiligo is an autoimmune disease involving loss of melanocytes. While 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 (GWMA) was conducted to search for more susceptibility variants of vitiligo. Tang et al. performed a genome-wide association study (GWAS) for cohort I (1,117 vitiligo cases and 1,701 healthy controls) previously and we conduct a GWAS for cohort II (3,323 vitiligo cases and 7,186 healthy controls) in this study, with the results subjected to a GWMA and linkage disequilibrium (LD) analysis. We identify 11 susceptibility variants to our knowledge previously unreported, of which six variants are located in the intronic regions and the remaining five variants are located within intergenic regions between genes. Additionally, the results of PRS shows that the best evaluated effect for target data is among significant SNPs 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.