Background: Ischaemic heart disease (IHD), which is a clinical manifestation of atherosclerotic changes in coronary arteries, results from the action of multiple genetic and environmental factors. Genetic susceptibility to IHD may be determined by specific polymorphic variants of genes encoding isoforms involved in processes important in the pathogenesis of atherosclerosis. Due to the multifactorial nature of IHD, participation of a single polymorphism in the determination of the disease risk is relatively small. However, it seems that its significance may increase in the presence of a specific genetic or environmental background.
Aim: To evaluate a possible association between the epsilon polymorphism of the apolipoprotein E gene (apo E) and premature IHD in the Polish population as well as to determine whether the genotype may modulate the influence of conventional risk factors on IHD.
Methods: We studied 247 caucasian subjects: 140 patients with angiographically confirmed IHD and 107 blood donors without a history of IHD. Polymorphism epsilon of the apo E gene was genotyped using the PCR-RFLP method.
Results: We observed a tendency to a higher prevalence of the epsilon4 allele and carriers of this allele in the IHD group compared to controls. However, these differences were not statistically significant. We also observed a synergistic effect between epsilon4 allele carrier state and smoking, elevated level of total cholesterol and, to a lower degree - LDL cholesterol, on IHD risk.
Conclusion: Presented data show the synergistic effects between epsilon4 allele carrier state and some traditional risk factors on determining the risk of premature coronary artery disease.