ABSTRACT

Cardiovascular diseases, particularly coronary artery disease (CAD) and myocardial infarction, are the most significant causes of mortality among people worldwide. CAD is enormously complex in its interplay of environment and genetics, with numerous genetic loci contributing to its heritability. Peroxisome proliferator-activated receptor α (PPARα) is a transcription factor that is activated by physiological, pharmacological, or nutritional stimulation and acts to modulate lipid metabolism by regulating the expression of its target genes. Here, we aim to investigate the potential pleiotropic effects of three PPARA polymorphic loci (rs4253778, rs1800206, and rs135539) on CAD risk in a population of Turkish Cypriot women and also whether these effects are mediated by plasma lipid concentrations in the same population.

A total of 62 women with CAD and 117 otherwise healthy women were included in this population-based case–control study. Genomic DNA was extracted from peripheral blood samples, and the relevant PPARA polymorphisms were determined by the restriction endonuclease analysis of amplicons generated by polymerase chain reaction.

Genotyping and subsequent case–control comparisons revealed that although there was no over- or under-representation of the six tested PPARA alleles in the disease state, the homozygous presence of the PPARA rs4253778 C allele (genotype CC) was associated with increased triglyceride concentrations in patients with CAD (p=0.005).

Along with other yet-to-be-ascertained susceptibility loci, the PPARA rs4253778 polymorphic locus may be employed in risk stratification in community-level screening for CAD among Turkish Cypriot women.