Projects / Programmes
Genetic polymorphisms - candidate genes for coronary artery disease
Code |
Science |
Field |
Subfield |
3.06.00 |
Medical sciences |
Cardiovascular system |
|
Code |
Science |
Field |
B790 |
Biomedical sciences |
Clinical genetics |
B530 |
Biomedical sciences |
Cardiovascular system |
coronary artery disease, candidate genes, gene polymorphisms of angiotensin convertase, angiotensinogen, angiotensin II type-1 receptor, apoprotein E, apoprotein A1, factor VII, HaeIII beta chain fibrinogen, Bcl I beta chain fibrinogen, factor V point mutation
Researchers (8)
Organisations (1)
Abstract
Coronary artery disease (CAD) is a complex disease trait, which is probably due to interaction of multiple genetic and environmental factors. Advances in molecular genetics and development of new techniques have led to identification of numerous genetic polymorphisms in candidate genes for CAD.
Different genetic polymorphisms- functional variants of candidate genes for CAD were tested in case-control association studies. Candidate genes for CAD are genes, whose protein products are involved in the pathogenesis of atherosclerotic process (renin-angiotensin system and atherogenic factors) and thrombotic process (coagulation cascade).
We analyzed 171 Slovenian patients with CAD younger than 55 and compared them with 134 healthy controls. Multiple logistic-regression analysis showed that the deletion/ deletion genotype confers the 2.3 - fold independent risk for CAD in the Slovenian population (95 % confidence interval =1.2-4.3, p < 0.05). Among patients with hypercholesterolemia, a single point mutation in the factor V gene (factor V Leiden) confers the 1.7 - fold independent risk for CAD (95 % confidence interval =1.4-2, p < 0.05).
Multiple logistic-regression analysis did not show the gene polymorphisms of the angiotensinogen, angiotensin II type-1 receptor, apoprotein E, apoprotein A1, factor VII beta chain fibrinogen to be independent risk factors for CAD.
Polymorphism of the apoprotein E influences the LDL cholesterol level. Individuals with E4/3 genotype have the highest levels of the LDL cholesterol (4.6 mmol/l), individuals with E3/3 genotype have lower LDL cholesterol levels (4.4 mmol/l), individuals with E2/3 genotype having the lowest LDL cholesterol levels (3.4 mmol/l).
Multiple logistic-regression analysis showed that the positive family history of CAD confers the 2.4 - fold independent risk for CAD in the Slovenian population. Positive family history of premature CAD confers even higher risk for CAD, the 7.5 - fold independent risk for CAD in the Slovenian population.