Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

Abstract

Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo.

Therapeutic management of vitiligo

“…Siblings have a 6 % risk of developing the disease; twins, a 23 % risk . In addition, numerous gene variants (> 40) have been identified in genome‐wide association studies, which are associated with a vitiligo phenotype and encode immune‐regulating proteins or melanocyte components .…”

Genome-Wide Association Analysis Reveals Key Genes Responsible for Egg Production of Lion Head Goose

“…Genome-wide association studies (GWASs), which were proposed first by Risch in 1996, are powerful and effective tools to identify genetic markers associated with the trait of interest (Risch and Merikangas, 1996). In recent years, a large number of GWASs on human diseases have been published, such as for vitiligo (Shen et al, 2016) and for livestock animals such as pigs (Luo et al, 2012). Since the development of the HapMap Project, a number of high-density single-nucleotide polymorphism (SNP) chips for plant and animal species like chicken, swine, cattle, sheep, and the like have been developed as well (Gibbs et al, 2003).…”

Therapeutisches Management bei Vitiligo

“…25 % der Vitiligopatienten haben erkrankte Verwandte, für Geschwister besteht ein 6%iges und für Zwillinge ein 23%iges Erkrankungsrisiko . Zudem erfolgte die Identifizierung zahlreicher Genvarianten (> 40) in genomweiten Assoziationsstudien, die mit dem Phänotyp Vitiligo einhergehen und immunregulierende Proteine oder Melanozytenkomponenten codieren .…”