title: 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 a whole genome-based approach instead of a single or a few candidate genes may be useful for discovering new susceptible genes. Although the etiology of non-segmental and segmental 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 SNPs was 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 stronger association was suggested between the mutation in KIAA1005 (rs3213758) and the segmental 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.
authors.affiliation: Department of Dermatology, Dongguk University Ilsan Hospital, Goyang, Korea.
authors.forename: Kyung Ah
authors.initials: KA
authors.lastname: Cheong
authors.forename: Nan-Hyung
authors.initials: NH
authors.lastname: Kim
authors.forename: Minsoo
authors.initials: M
authors.lastname: Noh
authors.forename: Ai-Young
authors.initials: AY
authors.lastname: Lee
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D001324:Autoantigens / Q000235:genetics*; D056444:Axonemal Dyneins / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D014820:Vitiligo / Q000235:genetics*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D001324:Autoantigens; D002148:Calmodulin-Binding Proteins; C532826:RPGRIP1L protein, human; C405682:STRN3 protein, human; D056444:Axonemal Dyneins; C497507:DNAH5 protein, human
keywords: DNAH5; KIAA1005; SNPs; STRN3; Vitiligo