Association Between LOX-1, LAL, and ACAT1 Gene Single Nucleotide Polymorphisms and Carotid Plaque in a Northern Chinese Population

Genet Test Mol Biomarkers. 2020 Mar;24(3):138-144. doi: 10.1089/gtmb.2019.0209. Epub 2020 Feb 26.

Abstract

Objective: Carotid atherosclerosis is one of the major risk factors for ischemic stroke. The presence of carotid plaque has been widely used to assess the risk of clinical atherosclerotic disease. Lectin-type oxidized LDL (low-density lipoprotein) receptor 1 (LOX-1), lysosomal acid lipase (LAL), and acyl-CoA:cholesterol acyltransferase 1 (ACAT1) are important for lipid accumulation in atherosclerosis. The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) in the LOX-1, LAL, and ACAT1 genes and the presence of carotid plaque in a Northern Chinese population. Methods: Three polymorphisms in LOX-1 (rs1050286), LAL (rs11203042), and ACAT1 (rs11576517) were identified and genotyped in 215 patients with carotid plaque and 252 controls using the polymerase chain reaction with high-resolution melting analysis. Results: The LOX-1 (rs1050286) AA and LAL (rs11203042) TT genotypes were significantly associated with increased risk of carotid plaque, whereas a ACAT1 (rs11576517) TT genotype was shown to be protective against carotid plaque in a Northern Chinese population (p < 0.05). Even after the Bonferroni correction, the LAL (rs11203042) TT genotype (odds ratio = 3.838, 95% confidence interval = 1.748-8.426, p < 0.001) was still associated with an increased risk for carotid plaque. Conclusions: These results suggest that the LAL (rs11203042) TT genotype is associated with increased risk for carotid plaque in a Northern Chinese population, and that the LOX-1 (rs1050286) AA genotype shows a nonstatistically significant trend towards association. However, no association was found between the ACAT1 (rs11576517) polymorphisms and carotid plaque presence.

Keywords: ACAT1; LAL; LOX-1; carotid plaque; single nucleotide polymorphism.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Asian People / genetics
  • Carotid Artery Diseases / genetics
  • Carotid Intima-Media Thickness
  • China
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Plaque, Atherosclerotic / blood
  • Plaque, Atherosclerotic / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors
  • Scavenger Receptors, Class E / genetics*
  • Scavenger Receptors, Class E / metabolism
  • Sterol Esterase / genetics*
  • Sterol Esterase / metabolism
  • Sterol O-Acyltransferase / genetics*
  • Sterol O-Acyltransferase / metabolism
  • Stroke

Substances

  • OLR1 protein, human
  • Scavenger Receptors, Class E
  • Sterol O-Acyltransferase
  • sterol O-acyltransferase 1
  • LIPA protein, human
  • Sterol Esterase