J Korean Med Sci.  2013 May;28(5):775-779. 10.3346/jkms.2013.28.5.775.

Three New Single Nucleotide Polymorphisms Identified by a Genome-Wide Association Study in Korean Patients with Vitiligo

• Cheong KA
• Kim NH
• Noh M
• Lee AY

• KMID: 1777568
• DOI: http://doi.org/10.3346/jkms.2013.28.5.775

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.

Keyword

SNPs; DNAH5; STRN3; KIAA1005; Vitiligo

MeSH Terms

Adaptor Proteins, Signal Transducing/*genetics
Adolescent
Adult
Aged
Aged, 80 and over
Asian Continental Ancestry Group/*genetics
Autoantigens/*genetics
Axonemal Dyneins/*genetics
Calmodulin-Binding Proteins/*genetics
Child
Child, Preschool
Female
Gene Frequency
*Genome, Human
Genome-Wide Association Study
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Republic of Korea
Vitiligo/*genetics
Young Adult
Adaptor Proteins, Signal Transducing
Autoantigens
Calmodulin-Binding Proteins
Axonemal Dyneins

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