title: Platelet-derived growth factor receptor alpha gene mutations in vitiligo vulgaris.
abstract: 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.
authors.affiliation: Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
authors.forename: Shengxin
authors.initials: S
authors.lastname: Xu
authors.forename: Youwen
authors.initials: Y
authors.lastname: Zhou
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Yunqing
authors.initials: Y
authors.lastname: Ren
authors.forename: Chi
authors.initials: C
authors.lastname: Zhang
authors.forename: Cheng
authors.initials: C
authors.lastname: Quan
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Caifeng
authors.initials: C
authors.lastname: He
authors.forename: Hui
authors.initials: H
authors.lastname: Chen
authors.forename: Jianwen
authors.initials: J
authors.lastname: Hhan
authors.forename: Jianjun
authors.initials: J
authors.lastname: Chen
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Liang
authors.forename: Jianqiang
authors.initials: J
authors.lastname: Yang
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
authors.forename: Xianyong
authors.initials: X
authors.lastname: Yin
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D014820:Vitiligo / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: D020796:Receptor, Platelet-Derived Growth Factor alpha