Lacour J P, Ortonne J P
Service de Dermatologie, Hôpital Pasteur, Nice.
Ann Dermatol Venereol. 1995;122(4):167-71.
There are several arguments suggesting that vitiligo is a genetically dependent disease. Certain animals have comparable pigment disturbances (Smyth chickens, C57BL/6J-mi(vit)/mi(vit) mice and B light mice). Genetic studies have demonstrated that certain genes are crucial for the development of vitiligo. Familial cases and cases reported in twins are further arguments. There is a high risk for both children and siblings of a subject with vitiligo. Several HLA studies have been reported. Most show sporadic association between vitiligo and certain HLA groups, but there is no clear and regular association with any of the class I or II alleles. Intrinsic melanocyte anomalies which persist in cell culture also favour the genetic theory. Vitiligo is probably a polygenetic disease, simultaneous alterations in several genes either causing he disease or increasing susceptibility. One speculation would be that one or more genes are responsible for premature death of melanocytes. Likewise, genes affecting melanocyte growth either directly or via paracrine factors (genes coding for the keratinocyte melanotrophic factor, for example), and the combined effects of genes controlling autoimmune phenomena could be involved. Despite formal proof that vitiligo is genetically dependent, and despite rapid progress in molecular genetics, the gene or genes directly implicated in this dermatosis remain to be identified.
有几个论据表明白癜风是一种基因相关疾病。某些动物存在类似的色素紊乱情况（如史密斯鸡、C57BL/6J-mi(vit)/mi(vit)小鼠和B轻小鼠）。遗传学研究已证明某些基因对白癜风的发病至关重要。家族性病例以及双胞胎中报告的病例更是进一步的论据。白癜风患者的子女和兄弟姐妹患病风险都很高。已有多项关于人类白细胞抗原（HLA）的研究报告。大多数研究表明白癜风与某些HLA组之间存在散发性关联，但与任何I类或II类等位基因均无明确且规律的关联。在细胞培养中持续存在的内在黑素细胞异常也支持遗传学说。白癜风可能是一种多基因疾病，多个基因同时发生改变，要么导致该病，要么增加易感性。一种推测是一个或多个基因导致黑素细胞过早死亡。同样，直接或通过旁分泌因子影响黑素细胞生长的基因（例如编码角质形成细胞黑素营养因子的基因），以及控制自身免疫现象的基因的综合作用可能也与之有关。尽管有确凿证据表明白癜风与基因有关，且分子遗传学取得了快速进展，但直接与这种皮肤病相关的一个或多个基因仍有待确定。
