Exp Dermatol. 2010 Aug;19(8):e323-5. doi: 10.1111/j.1600-0625.2009.01039.x.
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.
自身免疫、自我毁灭、氧化应激和遗传理论被提出用于解释白癜风的发病机制。自噬对于细胞内稳态至关重要，并与许多病理生理状况有关，如癌症、对氧化应激和自身免疫的反应。紫外线（UV）辐射抗性相关基因（UVRAG）激活 Beclin1-PI(3)KC3 复合物，促进自噬。为了评估 UVRAG 多态性是否与韩国非节段性白癜风（NSV）患者相关，我们对 225 名 NSV 患者和 439 名匹配的健康对照组进行了病例对照关联研究。共选择了 UVRAG 的五个单核苷酸多态性（SNP）进行分析。其中，两个 SNP（rs1458836、rs7933235）在 NSV 患者组和对照组之间表现出显著的基因型差异。这两个 SNP 位于一个强连锁不平衡（LD）块内。此外，UVRAG 多态性的单倍型与 NSV 相关。这项研究提示 UVRAG 与 NSV 易感性之间可能存在关联。
