Genetic susceptibility to vitiligo: Recent progress from genome-wide association studies

Generalized vitiligo (GV) is a complicated disease in which patchy depigmentation results from the autoimmune loss of melanocytes from affected regions. It may follow a pattern of polygenetic or multifactorial inheritance. Previously, a number of genetic susceptibility factors have been identified through linkage and candidate gene studies, such as HLA, PTPN22, NALP1, and XBP1. Recently, a series of genome-wide association studies have been carried out in different populations to further explore the susceptibility variants for GV. More than 30 robust susceptibility loci have been identified and confirmed. Most of these associated genes encode components of biological pathways reaching from the immune cell to the melanocytes. In this review, we summarize the advances of vitiligo epidemiology and genetics, and highlight recent findings from genome-wide association studies, emphasizing susceptibility loci and comparing the susceptibility loci between Chinese people and Caucasians. These genetic studies may help in providing an insight into the pathogenesis of this disease and initiating the feasibility of genetic diagnosis and personalized treatment for patients with GV in the future.