| Background Vitiligo (OMIM:193200) is an acquired, non-contagious disease inwhich progressive, patchy, multifocal loss of pigmentation of skin, may involving hair,and often mucous membranes results from loss of melanocytes in the involved areas.Multiple genes and environmental triggers are thought to play a key role in thedevelopment of vitiligo. These genes and environmental factors differ across differentpopulations, with various prevalence rates ranging from0.1%to2.9%in differentgeographical regions and ethnic groups. The prevalence of vitiligo in China isapproximately0.19%.Though some hypotheses have been proposed to explain the pathogenesis of vitiligo,including self-destructive, biochemical, neural, autoimmune and genetic hypotheses，buteach of them can explain only a small proportion of cases. Clinical and epidemiologicalinvestigations have suggested that vitiligo might follow a pattern of polygenetic ormultifactorial inheritance. Vitiligo clusters in families, results in increased risk infirst-degree relatives, and shows a high concordance rate in monozygotic twins. Aquarter of vitiligo patients have other autoimmune diseases, and their close relatives areat a higher risk of autoimmune disease than the general population. These associatedautoimmune diseases include autoimmune thyroid disease, adult-onset autoimmunediabetes mellitus, systemic lupus erythematosus, rheumatoid arthritis, Addison’s disease,pernicious anemia, and psoriasis. A number of genetic susceptibility factors have beenidentified through linkage and association studies. Recently, two genome-wideassociation studies (GWAS) were performed in a Caucasian population, and more thanninety SNPs have been reported to be associated with vitiligo. In order to determinewhether those SNPs are associated with a predisposition to vitiligo in Chinese Han population,11SNPs （rs9926296, rs853308, rs6510827, rs4822024, rs4766578,rs4330287, rs3814231, rs2192346, rs17008723, rs16872571and rs10768122located in16q24.3,8q24.22,19p13.3,22q13.2,12q24.12,3q13.33,10q25.3,7p21.3,3p13,4p16.1and11p13respectively） were chosen to genotyping in Chinese Han populationaccording to the linkage disequilibrium (LD) and the minor allele frequency (MAF) ofthose SNPs.Objective The aim of this study was to evaluate whether those elevensingle-nucleotide polymorphisms (SNPs) rs9926296, rs853308, rs6510827, rs4822024,rs4766578, rs4330287, rs3814231, rs2192346, rs17008723, rs16872571, rs10768122located in16q24.3,8q24.22,19p13.3,22q13.2,12q24.12,3q13.33,10q25.3,7p21.3,3p13,4p16.1, and11p13respectively show significant evidence for association withvitiligo in a Chinese Han population.Methods The genotyping was done by using the Sequenom MassArray in1977casesof vitiligo and2024healthy controls. After quality controls, statistical analysis wasperformed by SPSS13.0and Plink1.03softwares.Results1.There were no significant differences between the case group and thenormal control group in the allele frequency and the genotype frequency of11selectedSNPs (P>0.05).2. The statistical difference between the familial and sporadic caseswere not significant (P>0.05).3. There were no statistical difference between the≤20years age of onset cases and controls of the allelic and genotype frequencies ofrs9926296polymorphism (P>0.05). There were also no statistical significance between>20years age of onset cases and controls of the allelic and genotype frequencies ofrs9926296polymorphism (P>0.05). However, the statistical difference was significantof the allelic of rs9926296between cases aged≤20years and＞20years of onset cases(P=0.03797，OR=1.75，95%CI：1.03-2.30), but the genotype frequencies of rs9926296 was not statistically different between these two groups.Conclusion1. There were no association between the11SNPs and the susceptibilityof vitiligo in Chinese Han population.2. The rs9926296polymorphism is associatedwith age of onset of generalized vitiligo.3. There is heterogeneity of vitiligosusceptibility gene between Caucasian and Chinese populations. |
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