Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease

Postgrad Med J. 2020 Nov;96(1141):666-673. doi: 10.1136/postgradmedj-2019-136917. Epub 2020 Jan 7.

Abstract

Background: The relationships between the rs1800976, rs4149313 and rs2230806 polymorphisms in ATP binding cassette protein A1 and severity of coronary artery disease (CAD) remain unclear.

Methods: Four hundred and forty-two patients with CAD and 217 CAD-free subjects were enrolled in this study. The rs1800976, rs4149313 and rs2230806 polymorphisms were genotyped by PCR-RFLP. Severity of CAD was evaluated by Gensini score system, number of stenotic coronary vessels and extent of coronary stenosis.

Results: C allele of the rs1800976 polymorphism, G allele of the rs4149313 polymorphism and A allele of the rs2230806 polymorphism were found to be risk alleles for CAD (p<0.05 for all). In patients with CAD, C allele of the rs1800976 polymorphism was associated with high levels of hypersensitive C reactive protein (hs-CRP) and cystatin c (CysC), and its frequency increased with percentiles of Gensini score, number of stenotic coronary vessels and extent of coronary stenosis (p<0.05 for all). The subjects with GA genotype of the rs4149313 polymorphism had higher levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), apolipoprotein B and hs-CRP than those with AA genotype (p<0.05 for all). The subjects with AA genotype of the rs2230806 polymorphism had higher levels of TC, LDL-C and uric acid than those with GA genotype (p<0.05 for all). No associations between the rs4149313 or rs2230806 polymorphism and severity of CAD were detected.

Conclusions: The rs1800976 polymorphism is significantly associated with the occurrence and severity of CAD, which is possibly mediated by hs-CRP and CysC.

Keywords: ABCA1; coronary artery disease; polymorphism; severity.

MeSH terms

  • ATP Binding Cassette Transporter 1 / genetics*
  • Apolipoproteins B / analysis
  • C-Reactive Protein / analysis*
  • China / epidemiology
  • Cholesterol, LDL / blood
  • Coronary Angiography / methods
  • Coronary Artery Disease* / blood
  • Coronary Artery Disease* / diagnosis
  • Coronary Artery Disease* / epidemiology
  • Coronary Artery Disease* / genetics
  • Coronary Vessels* / diagnostic imaging
  • Coronary Vessels* / pathology
  • Cystatin C / analysis*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Severity of Illness Index

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • Apolipoproteins B
  • CST3 protein, human
  • Cholesterol, LDL
  • Cystatin C
  • C-Reactive Protein