tailieunhanh - báo cáo khoa học: "The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma | Spritz Genome Medicine 2010 2 78 http content 2 10 78 w Genome Medicine MINIREVIEW L__ The genetics of generalized vitiligo autoimmune pathways and an inverse relationship with malignant melanoma Richard A Spritz Abstract Generalized vitiligo GV is the most common pigmentation disease in which white spots of skin and overlying hair result from loss of melanocytes from the involved regions. GV is a complex disease involving both genetic predisposition and unknown environmental triggers. Whereas various pathogenetic mechanisms have been suggested most evidence supports an autoimmune basis for this disease. Recently three different genome-wide association studies of GV have been reported identifying a total of 17 confirmed GV susceptibility loci. Almost all of these genes encode immunoregulatory proteins together highlighting pathways by which melanocytes might be recognized and killed. Moreover the biological interaction between two of these GV susceptibility genes HLA-A and TYR encoding tyrosinase points to an apparent inverse relationship between susceptibility to GV versus malignant melanoma suggesting that GV may result in part from dysregulation of normal processes of immune surveillance against melanoma. The genetics and epidemiology of generalized vitiligo Generalized vitiligo GV is the most common depigmentation disorder in which acquired multifocal patches of white skin and overlying hair result from loss of melanocytes in the involved areas Figure 1 1 2 . The prevalence of GV is approximately in various populations 3 with an average age of onset at about 24 years and occurring with approximately equal frequency in males and females 4 . The concordance of GV in monozygotic twin-pairs is approximately 23 4 and Correspondence Human Medical Genetics Program University of Colorado School of Medicine Aurora CO 80045 USA 2 BioMed Central 2010 BioMed Central Ltd epidemiological evidence indicates that GV .