Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus

J Lipid Res. 2002 Mar;43(3):416-27.

Abstract

We conducted a cross-sectional study in a Spanish population (n = 1,029) to investigate associations between the LPL and APOC3 gene loci (LPL-HindIII, LPL-S447X, and APOC3-SstI) and plasma lipid levels and their interaction with APOE polymorphisms and smoking. Carriers of the H(-) or the X447 allele had higher levels of HDL cholesterol (HDL-C), and lower levels of TG, after adjustment for age, body mass index, alcohol, smoking, exercise, and education (P < 0.01). The APOC3 polymorphism presented additive effects to the LPL variants on TG and HDL-C levels in men, and on TG in women. The most and the least favorable haplotype combinations were H(-)/X447/S1 and H(+)/S447/S2, respectively. These combinations accounted for 7% and 5% of the variation in HDL-C and TG in men, and 3% and 4% in women. There was a significant interaction between APOE and LPL variants and HDL-C levels in both genders (P < 0.05). The increases in HDL-C observed for the rare alleles were higher in epsilon4 than in epsilon3 subjects, and absent in epsilon2 individuals. This effect was modulated by smoking (interaction HindIII-APOE-smoking, P = 0.019), indicating that smoking abolished the increase in HDL-C levels observed in epsilon4/H(-) subjects. Understanding this gene-gene-environmental interaction may facilitate preventive interventions to reduce coronary artery disease risk.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Apolipoproteins C / genetics*
  • Apolipoproteins C / physiology
  • Apolipoproteins E / genetics*
  • Cholesterol, HDL / blood
  • Cross-Sectional Studies
  • Deoxyribonuclease HindIII / genetics
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Female
  • Genetic Variation / genetics
  • Humans
  • Lipids / blood*
  • Lipoprotein Lipase / genetics*
  • Lipoprotein Lipase / physiology
  • Male
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Genetic / physiology
  • Smoking / genetics*
  • Spain / epidemiology
  • Triglycerides / blood

Substances

  • Apolipoproteins C
  • Apolipoproteins E
  • Cholesterol, HDL
  • Lipids
  • Triglycerides
  • Lipoprotein Lipase
  • Deoxyribonuclease HindIII
  • endodeoxyribonuclease SacI
  • Deoxyribonucleases, Type II Site-Specific