title: Association of UVRAG polymorphisms with susceptibility to non-segmental vitiligo in a Korean sample.
abstract: Autoimmune, self-destructive, oxidative stress and genetic theories have been proposed for the pathogenesis of vitiligo. Autophagy is essential for cellular homeostasis and is implicated in many pathophysiological conditions such as cancer, response to oxidative stress and autoimmunity. The ultraviolet (UV) radiation resistance-associated gene (UVRAG) activates the Beclin1-PI(3)KC3 complex, promoting autophagy. To evaluate whether UVRAG polymorphisms are associated with non-segmental vitiligo (NSV) patients in a Korean sample, we conducted a case-control association study of 225 NSV patients and 439 matched healthy controls. A total of five single nucleotide polymorphisms (SNPs) of UVRAG were selected for analysis. Among these, two SNPs (rs1458836, rs7933235) showed significant genotypic differences between the NSV patient group and the control group. These two SNPs were located within a strong linkage disequilibrium (LD) block. In addition, the haplotype of the UVRAG polymorphism was associated with NSV. This study suggests a possible association between UVRAG and NSV susceptibility.
authors.forename: Taek-Jo
authors.initials: TJ
authors.lastname: Jeong
authors.forename: Min-Kyung
authors.initials: MK
authors.lastname: Shin
authors.forename: Yoon-Kyung
authors.initials: YK
authors.lastname: Uhm
authors.forename: Hak-Jae
authors.initials: HJ
authors.lastname: Kim
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.forename: Mu-Hyoung
authors.initials: MH
authors.lastname: Lee
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D014820:Vitiligo / Q000208:ethnology* / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C408122:UVRAG protein, human