The genetic concept of vitiligo

Vitiligo is a relatively common, acquired pigmentary disorder characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. The prevalence of this disease varies from 0.1 to 2% in various global populations. The genetics of vitiligo cannot be explained by simple Mendelian genetics; it is characterized by incomplete penetrance, multiple susceptibility loci and genetic heterogeneity. Unraveling the complex genetics of vitiligo is a daunting challenge but the perseverance of vitiligo gene hunters has produced commendable results in recent years. Although environmental factors are important, there is considerable evidence that genes also play a significant role in its pathogenesis. Strong evidence from twin and family studies indicates the importance of genetic factors in the development of vitiligo, although it is clear that these influences are complex. Linkage and association studies have also provided strong support for vitiligo susceptibility genes on chromosomes 4q13-q21, 1p3l, 7q22, 8p12 and 17p13, white loci of interest at 6p, 6q, 14q, 9q, 13q, 19p and 22q require further follow-up. Although important obstacles to further progress will. need to be overcome, the successes of the past 5 years suggest that a detailed description of the genetic basis of vitiligo is a realistic goal. In the future, dissection of the complex genetic architecture of vitiligo will provide new approaches for treatment and prevention. In this article, we will give an overview of the latest findings in the genetics of vitiligo. (c) 2005 Published by Elsevier Ireland Ltd on behalf of Japanese Society for Investigative Dermatology.