Single-nucleotide polymorphisms of APE1 associated with risk and prognosis of vitiligo in a Han Chinese population

Adv Clin Exp Med. 2019 Sep;28(9):1249-1255. doi: 10.17219/acem/68364.

Abstract

Background: The single-nucleotide polymorphisms (SNPs) of apurinic/apyrimidinicendonuclease 1 (APE1), which has been implicated in cancers and the DNA base excision repair (BER) process, have not been thoroughly investigated in association with the risks of oxidative stress-related vitiligo.

Objectives: The aim of this study is to investigate associations between APE1 single-nucleotide polymorphisms 141T >G and 1349T >G and risk and prognosis of vitiligo.

Material and methods: From June 2013 to June 2015, a total of 460 vitiligo patients were randomly recruited as a case group; 200 of these patients received narrow bound ultraviolet B (NB-UVB) treatment. Meanwhile, 460 healthy controls were included as a control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to explore the distribution frequencies of genotypes.

Results: Significant differences were detected between the case group and the control group in the frequencies of the 141T >G and 1349T >G genotypes. At 141T >G, compared with patients carrying the TG + GG genotype, male patients carrying the TT genotype aged more than 20 years with active non-segmental vitiligo, without a family history of vitiligo or other autoimmune diseases, exhibited an increased risk of vitiligo. Binary logistic regression analysis demonstrated that the TT genotype at 141T >G and the non-TT genotype at 1349T >G were independent risk factors for vitiligo development. At 1349T >G, compared with patients carrying the TT genotype, male patients carrying the TG + GG genotype aged more than 20 years with active non-segmental vitiligo, without a family history of vitiligo or other autoimmune diseases, exhibited an increased risk of vitiligo. Moreover, patients carrying 141TG + GG or 1349 TT genotypes had better photochromic effects, lower cumulative radiation doses, shorter treatment times, and earlier first photochromic times.

Keywords: 141T >G; APE1; Asp148Glu; risk of vitiligo; vitiligo.

MeSH terms

  • Adult
  • Asian People / genetics*
  • Case-Control Studies
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / metabolism*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Vitiligo* / genetics
  • Vitiligo* / metabolism
  • Young Adult

Substances

  • APEX1 protein, human
  • DNA-(Apurinic or Apyrimidinic Site) Lyase