| Background Vitiligo(OMIM, # 193200) through the skin pigment melanin cell loss caused disorder a common acquired depigmentation of skin mucous membrane disease, skin lesions show progress, not complete, one or a few pieces of multiple lesions decreased pigment spots, the boundary is not clear, gradually expanded to state clearly decreased pigment spots, white, white board that can appear in the islands scattered around the pores of pigment, white spot cover can be normal or white hair hair, morbidity of the patients can only white hair of the head without white spot.Vitiligo worldwide for the etiology and pathogenesis of vitiligo is not yet fully clear and there are many different etiology of relevant theories, such as autoimmune disease theory, theory of melanocyte self-destruction, nerve chemical factor theory, genetic theory, and so on.Worldwide, the incidence of vitiligo is 0.1% ~ 0.2%.Vitiligo usually develops with children or young adulthood, to see more in young adults, it can get before the age of 20 patients commonly disease, the incidence of disease would decrease with age.Reports have pointed out that probability of developing other autoimmune disease vitiligo patients and their families will rise.Some patients with familial aggregation phenomenon, clinical epidemiological study showed that vitiligo may belong to the category of a polygenic disease, illness under the combination of genetic and environmental factors.Genome-wide Association Study(Genome Wide Association Study, GWAS) is currently looking for complexity of genetic disease in the world an effective research method, the complexity factors of skin diseases such as psoriasis, vitiligo, systemic lupus erythematosus research has significant results.In our recent follow-up vitiligo genome-wide association study(GWAS) experiments it is found that in 12q13.2 single nucleotide polymorphisms(SNPS) rs10876864 loci(Pcombined = 8.07 x 10-12, OR = 1.18) and the han Chinese population generic hair style has a high intensity correlation of vitiligo.For more in-depth research into the causes of vitiligo, we has carried on the genotype phenotype analysis research to the site.Objective The aim of this study is to investigate the relationships between rs10876864 polymorphism and the clinical features of vitiligo in Chinese Han population of 6,857 cases and 12,025 controls from previous GWAS of vitiligo.Method We selected6857 cases and 6857 controls from the recent follow-up vitiligo GWAS.Then the Illumina Human610 chips and 5 ’nuclease allele classification experiment(Taq Man Assay) were used for genotyping rs10876864, in the later adopted the chi-square test and logistic analysis method and PLINK1.06, SPSS10.0 software for rs10876864 with different classification of patients with vitiligo phenotypic results analyzed.Results The frequency of genotypic distribution for SNP rs10876864 in patients with early-onset(≤20) vitiligo was significantly higher than that of late-onset(>20) vitiligo(Pgenotype= 5.10×10-5, Pcombined = 5.00×10-3, OR = 1.15, 95% CI: 1.04-1.27). Subgroup analysis indicates a significant association between genotypic distribution of rs10876864 and clinical types of vitiligo(Pgenotype = 5.00×10-3, Pcombined = 3.00×10-2). There was also astatistical significance for generalized vitiligo patients with and without immune-related diseases(Pgenotype = 1.38×10-3, Pcombined = 4.50×10-2, OR = 1.23, 95% CI: 1.00-1.51).Conclusions Our study shows significant genotypic variation among patients with age of onset, different clinical types and with immune-related diseases. |
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