Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study

Lipids Health Dis. 2015 Jul 25:14:79. doi: 10.1186/s12944-015-0078-2.


Background: The v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B gene (MAFB) has been associated with serum lipid levels in the Eurpean population, but little is known about such association in the Chinese population or in atherosclerosis-related patients. Therefore, the purpose of the present study was to assess the association of the single nucleotide polymorphisms (SNPs) in the MAFB and serum lipid levels and the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Chinese population.

Methods: A total of 1,065 unrelated patients (CAD, 525 and IS, 540) and 539 healthy controls were recruited in this study. Genotypes of the MAFB rs2902940 and rs6102059 SNPs were determined by the Snapshot technology platform.

Results: The rs2902940AA genotype was associated with an increased risk of CAD (adjusted OR = 1.63, 95% CI = 1.07-2.48, P = 0.023) and IS (adjusted OR = 1.69, 95% CI = 1.09-2.61, P = 0.017). The rs2902940GA/AA genotypes were also associated with an increased risk of CAD (adjusted OR = 1.56, 95% CI = 1.04-2.32, P = 0.030 for GA/AA vs. GG) and IS (adjusted OR = 1.72, 95% CI = 1.14-2.60, P = 0.010 for GA/AA vs. GG). Significant interactions were observed only in those with higher body mass index (BMI), hypertension and diabetes (P < 0.05). The subjects with rs2902940GA/AA genotypes in controls had lower serum ApoAI levels than the subjects with GG genotype (P = 0.024).

Conclusions: The rs2902940A allele carriers in the MAFB conferred a decreased serum ApoAI level in controls and an increased risk of CAD and IS. The rs2902940GA/AA genotypes interacted with higher BMI, hypertension and diabetes to contribute the risk of CAD and IS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Coronary Artery Disease / blood
  • Coronary Artery Disease / complications
  • Coronary Artery Disease / diagnostic imaging
  • Coronary Artery Disease / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Humans
  • Lipids / blood
  • MafB Transcription Factor / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Radiography
  • Risk Factors
  • Stroke / complications
  • Stroke / diagnostic imaging
  • Stroke / genetics*


  • Lipids
  • MAFB protein, human
  • MafB Transcription Factor