Association of the rs1801133 variant in the MTHFR gene and sporadic Parkinson's disease

Folia Neuropathol. 2015;53(1):24-8. doi: 10.5114/fn.2015.49971.

Abstract

The MTHFR gene has been reported as a susceptibility locus for sporadic Parkinson's disease (sPD). The functional variant rs1801133 has been linked to hyperhomocysteinemia and dopaminergic cell death. Among different populations, Mexican-Mestizos (most present-day Mexicans) have the highest frequency of this variant. Therefore, we sought to determine a possible association of rs1801133 with SPD. In total, 356 individuals were included: 140 patients with PD, diagnosed according to the Queen Square Brain Bank criteria, and 216 neurologically healthy controls. Genotyping was performed using TaqMan probes for rs1801133 and real-time PCR. Logistic regression analysis with adjustment for smoking and gender was used to test for an association between genotype and SPD. The CC genotype was associated with SPD; exp() = 2.06; 95% CI: 1.101-3.873, p = 0.024. No association with age at onset, cognitive impairment or gender was found in our study group. Our data suggest an important role of MTHFR gene variants in SPD.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • Female
  • Genetic Association Studies / methods*
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mexico / epidemiology
  • Middle Aged
  • Parkinson Disease / diagnosis*
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)