Platelet-derived growth factor receptor alpha gene mutations in vitiligo vulgaris.
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.
Xu
Shengxin
S
Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
Zhou
Youwen
Y
Yang
Sen
S
Ren
Yunqing
Y
Zhang
Chi
C
Quan
Cheng
C
Gao
Min
M
He
Caifeng
C
Chen
Hui
H
Hhan
Jianwen
J
Chen
Jianjun
J
Liang
Yanhua
Y
Yang
Jianqiang
J
Sun
Liangdan
L
Yin
Xianyong
X
Liu
Jianjun
J
Zhang
Xuejun
X
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
D020796:Receptor, Platelet-Derived Growth Factor alpha