Cholesteryl Ester Transfer Protein Gene Polymorphism (I405V) and Risk of Ischemic Stroke

J Stroke Cerebrovasc Dis. 2018 Oct;27(10):2887-2891. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.020. Epub 2018 Aug 2.

Abstract

Background: Cholesteryl ester transfer protein (CETP) plays a major role in the metabolism of high-density lipoprotein. Polymorphisms in the CEPT gene can affect susceptibility to atherosclerosis and cardiovascular disease. The aim of this study was to evaluate the association of the CETP I405V polymorphism with ischemic stroke.

Methods: Five hundred eighty stroke patients and 505 healthy controls were involved in a study. Genomic DNA from all subjects was genotyped for the I405V polymorphism by polymerase chain reaction and restriction analysis.

Results: The comparison of stroke and control groups showed a significant increase of V allele and VV genotype in stroke patients (OR 1.61, 95% CI 1.34-1.93 and 2.83, 95% CI 1.78-4.51, respectively). The distribution of alleles and genotypes was also compared between stroke patients with type 2 diabetes mellitus (T2DM) and patients without it. No statistically significant differences were observed between two subgroups. The OR for V allele was 1.15, 95% CI .91-1.46 and for VV genotype 1.25, 95% CI .73-2.15. In comparison of these subgroups separately with controls, the results were similar to obtained for entire STR group. When the distribution of I405V polymorphism in relation to T2DM was analyzed in subgroups of men (n = 296) and women (n = 284) no statistically significant differences were observed.

Conclusion: Our results demonstrate that the I405V polymorphism in the CETP gene is strongly associated with ischemic stroke. The presence of T2DM did not affect this association. To our knowledge this is the first such association documented in Caucasian population.

Keywords: Cholesteryl ester transfer protein; ischemic stroke; risk allele; single nucleotide polymorphism.

MeSH terms

  • Aged
  • Brain Ischemia / diagnosis
  • Brain Ischemia / ethnology
  • Brain Ischemia / genetics*
  • Chi-Square Distribution
  • Cholesterol Ester Transfer Proteins / genetics*
  • Diabetes Mellitus, Type 2 / ethnology
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Poland / epidemiology
  • Polymorphism, Single Nucleotide*
  • Retrospective Studies
  • Risk Factors
  • Stroke / diagnosis
  • Stroke / genetics*
  • White People / genetics

Substances

  • CETP protein, human
  • Cholesterol Ester Transfer Proteins