Department of Dermatology, Kohwang Medical Research Institute, School of Medicine, Kyunghee University, 1 Hoeki-Dong, Dongdaemun-Ku, Seoul 130-702, Korea.
Br J Dermatol. 2010 Apr;162(4):759-64. doi: 10.1111/j.1365-2133.2009.09574.x. Epub 2009 Nov 10.
Vitiligo is a pigmentary skin disorder characterized by a chronic and progressive loss of melanocytes. Although the aetiology of vitiligo is currently unknown, several theories have been proposed to explain the pathogenesis of this disease, including autoimmune, neural, self-destruction, oxidative stress, and genetic theories. Thioredoxin domain containing 5 (TXNDC5) is a newly identified member of the thioredoxin family. TXNDC5 has a protein disulphide isomerase-like domain which plays an important role in protein folding and chaperone activity, against endoplasmic reticulum (ER) stress induced by oxidative stress within the ER.
To determine whether variation in the TXNDC5 gene contributes to the risk of developing nonsegmental vitiligo (NSV) in the Korean population.
We conducted a case-control association study of 230 patients with NSV and 417 matched, unaffected controls. Seven single nucleotide polymorphisms (SNPs) in the TXNDC5 gene were selected for study.
Of the selected SNPs, three exonic SNPs (rs1043784, rs7764128 and rs8643) were statistically associated with NSV. Among them, rs1043784 remained a statistically significant association following Bonferroni correction. These three SNPs were located within a block of linkage disequilibrium; the haplotypes AGG and GAA, consisting of rs1043784, rs7764128 and rs8643, demonstrated a significant association with NSV.
These results suggest that TXNDC5 gene polymorphisms are associated with the development of NSV in the Korean population.
白癜风是一种以黑素细胞慢性、进行性丧失为特征的色素性皮肤疾病。虽然白癜风的病因目前尚不清楚，但已经提出了几种理论来解释这种疾病的发病机制，包括自身免疫、神经、自毁、氧化应激和遗传理论。硫氧还蛋白结构域 5（TXNDC5）是新发现的硫氧还蛋白家族成员。TXNDC5 具有蛋白二硫键异构酶样结构域，在蛋白质折叠和伴侣活性中发挥重要作用，可对抗内质网（ER）内氧化应激引起的 ER 应激。
确定 TXNDC5 基因变异是否与韩国人群中非节段性白癜风（NSV）的发病风险相关。
我们对 230 例 NSV 患者和 417 例匹配的无病对照进行了病例对照关联研究。选择了 TXNDC5 基因中的 7 个单核苷酸多态性（SNP）进行研究。
在所选择的 SNP 中，3 个外显子 SNP（rs1043784、rs7764128 和 rs8643）与 NSV 具有统计学相关性。其中，rs1043784 在经过 Bonferroni 校正后仍然与 NSV 具有统计学显著相关性。这三个 SNP 位于连锁不平衡块内；由 rs1043784、rs7764128 和 rs8643 组成的 AGG 和 GAA 单倍型与 NSV 显著相关。
这些结果表明，TXNDC5 基因多态性与韩国人群中 NSV 的发生有关。
