Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis.

ABSTRACT: Generalized vitiligo (GV) is a complex disease in which patchy depigmentation results from autoimmune loss of melanocytes from affected regions. Genetic analyses of GV span six decades, with the goal of understanding biological mechanisms and elucidating pathways that underlie the disease. The earliest studies attempted to describe the mode of inheritance and genetic epidemiology. Early genetic association studies of biological candidate genes resulted in some successes, principally HLA and PTPN22, but in hindsight many such reports now seem to be false-positives. Later, genome-wide linkage studies of multiplex GV families identified NLRP1 and XBP1, which appear to be valid GV susceptibility genes that control key aspects of immune regulation. Recently, the application of genome-wide assoc

SUBMITTER: Spritz RA 

PROVIDER: S-EPMC3258303 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature