APOA5 variants predispose hyperlipidemic patients to atherogenic dyslipidemia and subclinical atherosclerosis

Atherosclerosis. 2015 May;240(1):98-104. doi: 10.1016/j.atherosclerosis.2015.03.008. Epub 2015 Mar 9.

Abstract

Background: Triglycerides (TG) are the initiators of the metabolic changes leading to the atherogenic dyslipidemia, which is a major inducer of atherosclerosis as a result of quantitative and qualitative changes in lipoprotein subclass distributions. We hypothesized that variation at the of APOA5 gene locus, encoding apoAV, a key regulator of TG levels, significantly affect lipoprotein subclass distributions toward a more atherogenic pattern in both hyperTG patients and dyslipemic patients.

Methods: We recruited four hundred and twenty-two subjects attending a Lipid Clinic, prior to lipid-lowering treatment. We genotyped two APOA5 variants, rs662799 (-1131T>C) and rs3135506 (S19W). Circulating lipoproteins were determined by nuclear magnetic resonance (NMR). Intima-media thickness (IMT) was evaluated using B-mode ultrasound.

Results: Carriers of the rare alleles of rs662799 and rs3135506 compared to common allele homozygotes, had a significantly proatherogenic profile of the VLDL and LDL subclasses, resulting in increased concentrations of the proatherogenic subclasses, large VLDLs (+133%, p<0.001) and small LDLs (+34%, p=0.014). Significant changes in smaller HDL (+71%, p=0.032), as well as an 18% decrease in large HDL (p=0.046), were also been observed. This atherogenic NMR subclass distribution was significantly associated with increased carotid IMT. The observed effects were significantly stronger in patients with a BMI≥25 kg/m2 and in male and female patients with a waist circumference≥90 cm or ≥85 cm, respectively.

Conclusion: In a dyslipemic population, genetic variants of APOA5 modulate lipoprotein subclass distributions, inducing an atherogenic profile associated with IMT defined subclinical atherosclerosis.

Keywords: APOA5; Atherogenic dyslipidemia; IMT; NMR; Polymorphisms.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Apolipoprotein A-V
  • Apolipoproteins A / genetics*
  • Asymptomatic Diseases
  • Biomarkers / blood
  • Carotid Artery Diseases / blood
  • Carotid Artery Diseases / diagnosis
  • Carotid Artery Diseases / epidemiology
  • Carotid Artery Diseases / genetics*
  • Carotid Intima-Media Thickness
  • Comorbidity
  • Dyslipidemias / blood
  • Dyslipidemias / diagnosis
  • Dyslipidemias / epidemiology
  • Dyslipidemias / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Heterozygote
  • Homozygote
  • Humans
  • Lipoproteins, LDL / blood
  • Magnetic Resonance Spectroscopy
  • Male
  • Middle Aged
  • Overweight / diagnosis
  • Overweight / epidemiology
  • Phenotype
  • Risk Factors
  • Spain / epidemiology
  • Triglycerides / blood
  • Waist Circumference
  • Young Adult

Substances

  • APOA5 protein, human
  • Apolipoprotein A-V
  • Apolipoproteins A
  • Biomarkers
  • Lipoproteins, LDL
  • Triglycerides