the genetics of generalized vitiligo autoimmune pathways and an inverse relationship with malignant melanoma广义的基因白癜风自身免疫途径和逆与恶性黑色素瘤的关系.pdf

Spritz Genome Medicine 2010, 2:78 /content/2/10/78 M I N I R E V I E W The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma Richard A Spritz* epidemiological evidence indicates that GV is a complex Abstract trait involving multiple genes and unknown environ- Generalized vitiligo (GV) is the most common mental factors [3]. pigmentation disease, in which white spots of skin Many hypotheses have been proposed to account for and overlying hair result from loss of melanocytes melanocyte loss in GV [1]. Most current evidence from the involved regions. GV is a complex disease supports an autoimmune basis of disease [5], though the involving both genetic predisposition and unknown triggers of the autoimmune response remain unknown. environmental triggers. Whereas various pathogenetic Among European-derived white individuals with GV, mechanisms have been suggested, most evidence about 15% to 25% have at least one additional conco mitant supports an autoimmune basis for this disease. autoimmune disease, particularly autoimmune thyroid Recently, three dif erent genome-wide association disease (Hashimoto’s thyroiditis and Graves’ disease), studies of GV have been reported, identifying a total of pernicious anemia, rheumatoid arthritis, psori asis, type 1 17 coni rmed GV susceptibility loci. Almost all of these diabetes, Addison’s disease and systemic lupus erythe ma- genes encode immunoregulatory pr