白癜风的遗传学

Spritz Richard A, Andersen Genevieve H L

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, 12800 East 19th Avenue, Room 3100, MS8300, Aurora, CO 80045, USA.

Dermatol Clin. 2017 Apr;35(2):245-255. doi: 10.1016/j.det.2016.11.013.

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.

白癜风反映了多种遗传风险因素和环境诱因的共同作用。全基因组关联研究已经发现了约50个与白癜风风险相关的基因位点。在许多白癜风易感位点，相关基因和DNA序列变异已被确定。许多基因编码参与免疫调节的蛋白质，一些在细胞凋亡中起作用，其他的则调节黑素细胞的功能。尽管许多具体的生物学机制尚待阐明，但很明显，白癜风是一种自身免疫性疾病，涉及免疫系统编程与功能、黑素细胞自身免疫靶点的各个方面以及免疫反应失调之间的复杂关系。