Association of TXNDC5 gene polymorphisms and susceptibility to nonsegmental vitiligo in the Korean population

Br J Dermatol. 2010 Apr;162(4):759-64. doi: 10.1111/j.1365-2133.2009.09574.x. Epub 2009 Nov 10.


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.

MeSH terms

  • Adult
  • Asians / genetics
  • Case-Control Studies
  • Endoplasmic Reticulum / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Korea
  • Male
  • Middle Aged
  • Oxidative Stress / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Disulfide-Isomerases / genetics*
  • Statistics as Topic
  • Vitiligo / genetics*
  • Young Adult


  • Protein Disulfide-Isomerases
  • TXNDC5 protein, human