Association Between Rs2236313 And Phenotype Of Generalized Vitiligo In Chinese Han Population

Background Vitiligo is an acquired, depigmentary disorder of the skin and hair that results from selective destruction of melanocytes, with diverse prevalence rates ranging from 0.1% to 2.9% in different geographical regions and ethnic groups. There are multiple etiologic theories including self-destructive, biochemical, neural, autoimmune, and genetic hypotheses. However, the exact cause is still unknown. As we know, the development of vitiligo is possibly affected by both genetic backgrounds and common environmental factors. PubMed home has collected 92 vitiligo susceptibility loci including HLA-A, HLA-B, HLA-C, SLEV1, VTLG, Mitf, AIS3, FBXO11, VIT1, NLRP1, PTPN22, TYR, etc. Vitiligo is a complex disease which is non-Mendelian inheritance patterns with strong ethnic differences and genetic heterogeneity. In our previous genome-wide association study (GWAS), evidence for association between single nucleotide polymorphism (SNP) rs2236313 and vitiligo was provided (P=1.60×10^-15, OR=1.20) in Chinese Han Population. Rs2236313 is located at 6q27, which contains three genes: RNASET2, FGFR1OP and CCR6 and it provides new insights into the genetic basis of vitiligo. To investigate the association of this SNP with subphenotypes of generalized vitiligo, here we performed a genotype–phenotype analysis to explore the relationships between the locus and phenotypes of vitiligo in Chinese Han Population.Objective To investigate the potential association of SNP rs2236313 in 6q27 and some phenotypes of generalized vitiligo in Chinese Han Population.Methods We selected genotyping data and clinical data of 6,458 cases and 9,766 controls from our previous GWAS. Chi square test was used for comparing genotype or allele frequency distribution among the groups.Results We found that genotype and allele frequencies of SNP rs2236313 were of statistical significance between the cases and the controls (Pgenotype=8.21×10^-14, Pallele=1.26×10^-14, respectively). The allele frequency of rs2236313 was also significantly different between the early-onset and late-onset cases (P=0.04), and between cases with comorbidities and cases not with comorbidities (P=0.04). However, there weren't statistical significance between family history (positive) cases and family history (negative), and between mild and moderate to severe vitiligo (all P>0.05).Conclusion Our study confirmed the association between rs2236313 and vitiligo in Chinese Han Population. The findings indicated the SNP might be associated with some clinical characteristics of patients: onset age, associated disease. However, the SNP was not associated with some other clinical characteristics of patients: disease severity, clinical subtypes, family history.