K-H Jeong1, M-K Shin, Y-K Uhm, H-J Kim, J-H Chung, M-H Lee. 1. Department of Dermatology, Kohwang Medical Research Institute, School of Medicine, Kyunghee University, 1 Hoeki-Dong, Dongdaemun-Ku, Seoul 130-702, Korea.
Abstract
BACKGROUND: 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. OBJECTIVES: To determine whether variation in the TXNDC5 gene contributes to the risk of developing nonsegmental vitiligo (NSV) in the Korean population. METHODS: 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. RESULTS: 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. CONCLUSIONS: These results suggest that TXNDC5 gene polymorphisms are associated with the development of NSV in the Korean population.
BACKGROUND: 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. OBJECTIVES: To determine whether variation in the TXNDC5 gene contributes to the risk of developing nonsegmental vitiligo (NSV) in the Korean population. METHODS: 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. RESULTS: 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. CONCLUSIONS: These results suggest that TXNDC5 gene polymorphisms are associated with the development of NSV in the Korean population.
Authors: Stanca A Birlea; Ying Jin; Dorothy C Bennett; Deborah M Herbstman; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanja van Geel; Jo Lambert; Andreas Overbeck; Pamela R Fain; Richard A Spritz Journal: J Invest Dermatol Date: 2010-11-18 Impact factor: 8.551
Authors: Elena Horna-Terrón; Alberto Pradilla-Dieste; Cristina Sánchez-de-Diego; Jesús Osada Journal: Int J Mol Sci Date: 2014-12-17 Impact factor: 5.923