Shengxin Xu, Youwen Zhou, Sen Yang, Yunqing Ren, Chi Zhang, Cheng Quan, Min Gao, Caifeng He, Hui Chen, Jianwen Hhan, Jianjun Chen, Yanhua Liang, Jianqiang Yang, Liangdan Sun, Xianyong Yin, Jianjun Liu, Xuejun Zhang
DOI: 10.2340/00015555-0820

Vitiligo vulgaris is an acquired depigmenting disorder resulting from the loss of melanocytes in the skin. Though several putative susceptibility loci of vitiligo have been identified in different populations, the patho­genesis of the disease remains poorly understood.
Through genetic linkage analysis of a large Chinese family cohort of vitiligo, we identified a vitiligo linkage locus AIS4 within chromosome 4q12-q21, a region containing several possible candidate genes, including the platelet-derived growth factor receptor alpha (PDGFRA) gene. We postulated that PDGFR mutations may be linked with vitiligo. To test this hypothesis, we performed DNA sequencing on this gene in 143 multiplex families with familial vitiligo vulgaris, 480 patients with sporadic vitiligo vulgaris, and 480 healthy subjects. Mutations were found in 3.5% of familial vitiligo cases, which is significantly higher than for the general population (0.42%, p = 0.008, Fisher’s exact test), and possibly higher than in sporadic vitiligo patients (1.0%, p = 0.053). To our knowledge, this is the first observation that PDGFRA mutations are linked with familial vitiligo vulgaris.