Methylenetetrahydrofolate reductase C667T polymorphism is associated with increased risk of coronary artery disease in a Chinese population

Scand J Immunol. 2014 Nov;80(5):346-53. doi: 10.1111/sji.12215.

Abstract

Coronary artery disease (CAD) is a complex disease resulting from a combination of environmental and genetic factors. We hypothesized that polymorphisms in methylenetetrahydrofolate reductase (MTHFR) rs1801133 C/T, matrix metalloproteinases (MMPs)-2, tumour necrosis factor (TNF)-α, macrophage migration inhibitory factor (MIF) rs755622 G/C and cyclin D1 (CCND1) rs678653 G/C contribute to CAD susceptibility. We examined the association between the five polymorphisms and the risk of CAD in a Chinese population of 435 CAD patients and 480 controls. Genotyping was performed using matrix-assisted laser desorption ionization/time-of-flight mass spectrometry (MALDI/TOF MS). When the MTHFR rs1801133 CC homozygote genotype was used as the reference group, the TT or CT/TT genotypes were associated with a significantly increased risk for CAD. The CT heterozygote genotype was not associated with the risk for CAD. Logistic regression analyses revealed that MMP-2 rs243865 C/T, TNF-α rs1800629 A/G, MIF rs755622 G/C and CCND1 rs678653 G/C polymorphisms were not associated with the risk of CAD. These findings suggest that the MTHFR rs1801133 C/T polymorphism is associated with CAD development. Future larger studies with other ethnic populations are required to confirm current findings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Base Sequence
  • Case-Control Studies
  • China
  • Coronary Artery Disease / genetics*
  • Cyclin D1 / genetics
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Intramolecular Oxidoreductases / genetics
  • Macrophage Migration-Inhibitory Factors / genetics
  • Male
  • Matrix Metalloproteinase 2 / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk
  • Sequence Analysis, DNA
  • Tumor Necrosis Factor-alpha / genetics

Substances

  • CCND1 protein, human
  • Macrophage Migration-Inhibitory Factors
  • Tumor Necrosis Factor-alpha
  • Cyclin D1
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • MMP2 protein, human
  • Matrix Metalloproteinase 2
  • Intramolecular Oxidoreductases
  • MIF protein, human