ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang

Biomed Res Int. 2020 Nov 30;2020:6954820. doi: 10.1155/2020/6954820. eCollection 2020.


Objective: To analyze the ATP13A2 gene variants in the Han and Uyghur populations residing in Xinjiang and to determine their correlation with the risk of Parkinson's disease (PD).

Methods: Four ATP13A2 SNVs-rs56367069 (Arg294Gln), rs151117874 (Thr12Met), rs147277743 (Ala746Thr), and rs2076603-were analyzed in 218 patients (75 Uyghurs and 143 Hans) with sporadic PD and 234 healthy controls (90 Uyghurs and 144 Hans) by Sanger DNA sequencing.

Results: Only one Han patient harbored the AG genotype of the rs147277743 SNV, indicating a frequency of 0.46% in the Han population. In addition, this SNV was not associated with PD risk. The rs2076603 SNV was correlated with PD development, and the A allele in particular was significantly different across ethnicity and age. The rs56367069 and rs151117874 SNVs were not detected in the entire cohort.

Conclusion: ATP13A2 rs2076603 SNV is associated with PD susceptibility, and the A allele is a PD protective factor in the Han population.

MeSH terms

  • Aged
  • Alleles
  • Asian People / genetics
  • Case-Control Studies
  • China / epidemiology
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • Proton-Translocating ATPases / genetics*
  • Risk
  • Sequence Analysis, DNA


  • ATP13A2 protein, human
  • Proton-Translocating ATPases