Lipoprotein lipase gene polymorphism and lipid profile in coronary artery disease

Arch Pathol Lab Med. 2004 Aug;128(8):869-74. doi: 10.5858/2004-128-869-LLGPAL.

Abstract

Context: Lipoprotein lipase (LPL) plays a central role in lipid metabolism, hydrolyzing triglyceride in chylomicrons and very-low-density lipoproteins. The PvuII polymorphic variant of LPL gene is common and might affect risk of coronary artery disease (CAD).

Objective: Our aim was to determine whether LPL- PvuII polymorphism can be considered to be an independent risk factor or a predictor for CAD in Turkish subjects.

Design: We used polymerase chain reaction and restriction enzyme digestion to determine the distribution of the previously described C-->T transition that causes a PvuII polymorphism in intron 6 among healthy blood donors of Turkish origin and among angiographically confirmed CAD patients with comparable ethnic backgrounds.

Results: For the PvuII genotypes, within the CAD group (n = 80), the +/- genotype was found in 39 individuals (48.8%), whereas 25 (31.3%) carried the +/+ genotype, and 14 (17.5%) carried the -/- genotype. Within the control group (n = 49), the -/- genotype was found in 19 individuals (38.8%), 16 (32.7%) carried the +/- genotype, and 14 (28.6%) carried the +/+ genotype. The genotype frequency distribution was significantly different (P =.049) in the CAD and control study groups. The most frequent genotype among CAD patients was +/-; this genotype was more frequent in patients than in control subjects. However, the -/- genotype was more prevalent in the control group. Lipoprotein lipase-PvuII polymorphism was found to be associated with fasting total cholesterol and low-density lipoprotein cholesterol levels. The +/+ genotype was found to have higher levels of total cholesterol and low-density lipoprotein cholesterol in both the CAD and control groups.

Conclusion: There was a difference in the distribution of LPL-PvuII genotypes between the healthy subjects and the patients with CAD. Lipoprotein lipase-PvuII polymorphisms were not detected as independent risk factors for CAD in this study group, but had associations with lipid levels.

MeSH terms

  • Amino Acid Substitution*
  • Cholesterol / blood
  • Comorbidity
  • Coronary Disease / blood
  • Coronary Disease / ethnology
  • Coronary Disease / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Introns / genetics
  • Lipoprotein Lipase / genetics*
  • Lipoproteins, LDL / blood
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length*
  • Risk Factors
  • Smoking / epidemiology
  • Turkey / epidemiology

Substances

  • Lipoproteins, LDL
  • Cholesterol
  • Lipoprotein Lipase
  • CAGCTG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific