Association Between Rs11593576 Polymorphism Within ZMIZ1 And Phenotype Of Vitiligo In Chinese Han Population

Background Vitiligo is a common melanin pigmentary disorder of the epidermis and hair follicles manifested by expanding depigmented lesions of the skin, affecting both genders and ¹% of all ethnic groups worldwide. The prevalence of vitiligo in China is approximately 0.19%. The pathogenesis of vitiligo remains unclear. Several hypotheses have been proposed to explain the pathogenesis of vitiligo, including self-destructive, biochemical, neural, autoimmune and genetic hypotheses,but each of them can explain only a small proportion of cases. Clinical and epidemiological investigations indicated that vitiligo might follow a pattern of polygenetic or multifactorial inheritance. A number of genetic susceptibility factors have been identified through linkage and association studies; however, only a few loci, such as NLRP1 (encoding NLR family, pyrin domain–containing 1 and also known as NALP1) and some HLA alleles, have been replicated in multiple studies. Recently,our group performed a Genome-wide association study(GWAS)in Chinese Han population and observed suggestive association within ZMIZ1(SNP rs11593576).Objective To study the association between SNP rs11593576 within ZMIZ1 and some phenotypes of vitiligo in Chinese Han population,lay solid foundation for the pathogenesis of vitiligo.Methods Using the genotyping data from genome-wide association study in 6585 cases and 8178 controls using the Human 610-Quad BeadChips for vitiligo.Clinical data were compiled from questionnaires.All the data were inputted into a database set up by Epi Info 6.0 package.Then the data were statistically analyzed by Statistic Package of Social Science(SPSS 13.0).Results 1.The distribution of alleles and genotypes for rs11593576 were significant differences between cases and controls(P=3.93×10^-8,P=4.81×10^-7,respectively).Then cases were stratified from family history,lesion type,onset and associated disease, there were also significant differences between clinical subgroups and controls in distribution of allele and genotype,except the genotype frequency distribution in late onset and allele in universal,acrofacial types.2.The distribution of alleles and genotypes for rs11593576 were not significant differences in case-only analysis(P>0.05).Conclusion The results indicate that the SNP rs11593576 within ZMIZ1 is associated with vitiligo(except universal vitiligo)susceptibility in Chinese Han population,but we observed no correlation between specific genotype of rs11593576 and any clinical features of vitiligo.