Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo

Abstract

Genetic susceptibility is involved in the pathogenesis of vitiligo. Association studies with awhole genome-based approach instead of a single or a few candidate genes may be usefulfor discovering new susceptible genes. Although the etiology of non-segmental andsegmental types is different, the association between gene polymorphisms and vitiligo has been reported, without defining types or in non-segmental type. Whole genome-based single nucleotide polymorphisms (SNPs)were examined in patients with non-segmental and segmental types of vitiligo using the Affymetrix GeneChip 500K mapping array, and 10 functional classes of significant SNPs were selected. Genotyping and data analysis of selected 10 SNPswas performed using real-time PCR. Genotype and allele frequencies were significantly different between both types of vitiligo and three of the target SNPs,DNAH5 (rs2277046), STRN3 (rs2273171), and KIAA1005 (rs3213758). A strongerassociation was suggested between the mutation in KIAA1005 (rs3213758) and thesegmental type compared to the non-segmental type of vitiligo. DNAH5 (rs2277046),STRN3 (rs2273171), and KIAA1005 (rs3213758) may be new vitiligo-related SNPs in Korean patients, either non-segmental or segmental type. © 2013 The Korean Academy of Medical Sciences.