Avtor/Urednik     Petrovič, Danijel
Naslov     Molekularnogenetska analiza družinske hiperholesterolemije in koronarne bolezni
Prevedeni naslov     Molecular genetic analysis of familial hypercholesterolemia and coronary artery disease
Tip     monografija
Kraj izdaje     Ljubljana
Založnik     Medicinska fakulteta
Leto izdaje     1999
Obseg     str. 74
Jezik     slo
Abstrakt     Coronary artery disease (CAD) is a complex disease trait, which appears to be 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. Multiple logistic-regression analysis showed that the positive family history of CAD confers the 2.4-fold independent risk for CAD in the Slovenian general population (95 % confidence interval =2-2.8, p < 0.001 ), whereas positive family history of premature CAD confers even higher risk for CAD - 7.5-fold independent risk for CAD in the Slovenian population (95 % confidence interval =3.2-17.8, p < 0.001). The renin-angiotensin system, the coagulation factors and the atherogenic factors play an important role in the process of atherogenesis and thrombosis of coronary arteries. The genes of these three systems are candidate genes for CAD. The genetic variability of these candidate genes affects the phenotype expression of CAD as the genetic predisposition to CAD at the individual and population level. In the association study of 171 Slovenian patients with CAD younger than 55 and 134 subjects in control group different gene polymorphisms in candidate genes were tested. Multiple logistic-regression analysis showed that the deletion/deletion genotype of the insertion/ deletion polymorphism of the angiotensin converting enzyme confers the 2.3 - fold independent risk for CAD in the Slovenian population (95 % confidence interval =1.2- 4.3, p = 0.02). Multiple logistic-regression analysis did not show the gene polymorphism of the angiotensinogen, angiotensin II type-1 receptor, apoprotein E, apoprotein A1, factor VII, fibrinogen (HaeIII and 8clI polymorphisms), and a point mutation in the factor V Leiden to be an independent risk for CAD in Slovenia. Polymorphism of the apoprotein E influences the LDL cholesterol level. (Abstract truncated at 2000 characters.)
Deskriptorji     CORONARY DISEASE
HYPERCHOLESTEROLEMIA, FAMILIAL
POLYMORPHISM (GENETICS)
LOGISTIC MODELS
RENIN-ANGIOTENSIN SYSTEM
ELECTROPHORESIS, AGAR GEL
SLOVENIA
APOPROTEINS
LIPOPROTEINS, LDL
ATHEROSCLEROSIS