Association Study On Vitiligo Susceptible Gene Of Caucasians In Chinese Han Population

BackgroundVitiligo is the most common depigmentary disorder resulting from the loss of themelanocytes in the skin. Presenting as stark white patches on the normally pigmentedskin, vitiligo lesions are unevenly distributed on the skin surface, most frequently on thehighly visible body sites, such as the face, neck and the hands. The polygenic, multi-factorial inheritance of vitiligo, including environmental factors contributes tothe melanocyte destruction, resulting in the depigmented lesions. In recent years,in order to map and identify specific genes involved in vitiligo susceptibility andpathogenesis, many techniques, including gene expression studies, genetic associationstudies of candidate genes, genome-wide linkage analyses and genome-wide associationstudies（GWAS） have been used to discover new genes. The method of GWAS is themost popular technique in identifying susceptibility genes for complex diseases. Twogroups have performed the GWAS of vitiligo in European and Chinesepopulations.Some genes have been found to be associated with vitiligo, and some ofthem have been replicated in different population. In2010,Richard et al first performeda multistage genome-wide association study of vitiligo and identified several diseasesusceptibility genes such as PTPN22，RERE，UBASH3A，C1QTNF6and GZMB associatedwith the Caucasian population.ObjectiveTo examine whether the gene PTPN22，RERE，UBASH3A，C1QTNF6，GZMB PTPN22，RERE，UBASH3A，C1QTNF6，GZMB were associated with susceptibility to vitiligo in the ChineseHan population.MethodsEight SNPs from GWAS data were selected from vitiligo susceptibility loci previously reported in the Caucasian population. rs301819(P=8.85×10^-9, OR=1.32（1.21–1.45）),rs4908760((P=3.48×10^-7,OR=1.28（1.17–1.41）),rs11121194(P=3.00×10^-7,OR=1.28（1.17–1.41）),rs2476601(P=9.82×10^-9,OR=1.54（1.33–1.78）),rs11203203(P=1.72×10^-7,OR=1.30（1.18–1.42）),rs2839511(P=1.17×10^-8,OR=1.36（1.23–1.51）),rs8192917(P=5.54×10^-6,OR=1.28（1.15–1.42）)，rs5756546(P=4.34×10^-7,OR=1.33（1.19–1.48）)；We replicatedthese SNPs in Chinese Han cases using Sequenom Massarray iPLEX system（Sequenom,San Diego, CA）; PLINK1.07and SPSS16.0were used for Statisticalanalysis. P≤0.05is considered to be significant.Results1. No significant associations were observed for the SNPs rs301819, rs4908760,rs11121194, rs2476601,rs11203203,rs2839511，rs8192917，and rs57565（P>0.05）;2. The cases were stratified into three groups, according to the clinical characteristicsof gender, age of on set and family history. There was significant MAF differencefor the SNP rs4908760between the cases with positive family history and the caseswithout family history（P=0.0244, OR=1.346,95%CI=1.038-1.745）.But the totalresults remained negative after corrected by Bonferroni’s method.ConclusionsThe SNPs rs301819, rs4908760, rs11121194, rs2476601,rs11203203,rs2839511，rs8192917，and rs5756546may not be associated with vitiligo in Chinese Hanpopulation.