Genetics of Vitiligo.
Vitiligo reflects simultaneous contributions of multiple genetic risk factors and environmental triggers. Genomewide association studies have discovered approximately 50 genetic loci contributing to vitiligo risk. At many vitiligo susceptibility loci, the relevant genes and DNA sequence variants are identified. Many encode proteins involved in immune regulation, several play roles in cellular apoptosis, and others regulate functions of melanocytes. Although many of the specific biologic mechanisms need elucidation, it is clear that vitiligo is an autoimmune disease involving a complex relationship between immune system programming and function, aspects of the melanocyte autoimmune target, and dysregulation of the immune response.
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, 12800 East 19th Avenue, Room 3100, MS8300, Aurora, CO 80045, USA. Electronic address: richard.spritz@ucdenver.edu.
Richard A
RA
Spritz
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, 12800 East 19th Avenue, Room 3100, MS8300, Aurora, CO 80045, USA.
Genevieve H L
GH
Andersen
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D017209:Apoptosis / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015789:HLA-A2 Antigen / Q000235:genetics; D015804:HLA-DR4 Antigen / Q000235:genetics; D006801:Humans; D008544:Melanocytes / Q000378:metabolism*; D000070576:NLR Proteins; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D014820:Vitiligo / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C503514:FOXD3 protein, human; D051858:Forkhead Transcription Factors; D015789:HLA-A2 Antigen; D015804:HLA-DR4 Antigen; D000070576:NLR Proteins; C427903:NLRP1 protein, human; D020796:Receptor, Platelet-Derived Growth Factor alpha; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
Autoimmunity; Gene; Genetic epidemiology; Genetic linkage; Genomewide association study; Vitiligo