Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians

Genet Test Mol Biomarkers. 2012 Jul;16(7):756-60. doi: 10.1089/gtmb.2011.0256. Epub 2012 Jun 25.

Abstract

Aim: Monocytes play a critical role in atherosclerosis. CX3CR1 is expressed on monocytes and acts as either a monocyte chemokine receptor or an adhesion molecule. Two common variants of CX3CR1, V249I and T280M, reportedly decrease the coronary artery risk.

Results: We have examined the CX3CR1 genotype in 152 early-onset coronary artery disease (CAD) patients (age ≤ 45 years) and in 156 late-onset CAD patients (age ≥ 55 years) and in 300 healthy controls. Homozygous alleles CX3CR1-V249 and T280 were found associated with early onset of CAD (odds ratio [OR] 2.7, p<0.0001 and OR 2.76, p<0.0001, respectively), while alleles CX3CR1-I249 and M280 were found to be protective against early onset of disease (OR 0.36, p<0.0001 and OR 0.35, p<0.0001, respectively). A significant protective effect of the I(249)M(280) haplotype was observed in the early-onset CAD population (OR=0.40, 95% confidence interval [CI]=0.19-0.86, p=0.02), while the haplotype V(249)T(280) was associated with early onset of disease (OR=1.53, 95% CI=1.05-2.23, p=0.02).

Observation: It might be possible that the risk of early onset of CAD is associated with a genetic variation in chemokine receptor CX3CR1.

Publication types

  • Clinical Trial

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Amino Acid Substitution
  • CX3C Chemokine Receptor 1
  • Coronary Artery Disease / epidemiology
  • Coronary Artery Disease / genetics*
  • Female
  • Haplotypes
  • Humans
  • India
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Polymorphism, Genetic*
  • Receptors, Chemokine / genetics*
  • Risk Factors

Substances

  • CX3C Chemokine Receptor 1
  • CX3CR1 protein, human
  • Receptors, Chemokine