Apolipoproteins E and CI are the predominant components of triglyceride-rich lipoproteins. The genes are located in one gene cluster and both are polymorphic. Three allelic (ε2, ε3 and ε4) polymorphisms of the APOE gene influence plasma cholesterol levels. The distribution of these alleles differ between ethnic groups. PCR genotyping was used to determine the APOE and APOCI allele incidence in a representative group of 653 probands (302 men and 351 women) of Czech origin. The observed relative frequencies for the ε2, ε3 and ε4 alleles were 7.1 %, 82.0 % and 10.9 %, respectively, and are similar to other middle European populations. APO ε4 carriers have the highest and APO ε2 carriers the lowest levels of plasma total cholesterol (p<0.0001) and LDL cholesterol (p<0.0001). The frequency of the insertion (I) allele (HpaI restriction site present) of the APOCI polymorphism was 18.5 %. APOCI I/I homozygotes have the highest level of triglycerides (p<0.003). An almost complete linkage disequilibrium of the insertion allele of APOCI with the APOE alleles ε2 and ε4 has been detected and suggests that the deletion in the APOCI gene probably follows the deriving of all three APOE alleles on the APO ε3 allele background., J. A. Hubáček, J. Piťha, V. Adámková, Z. Škodová, V. Lánská, R. Poledne., and Obsahuje bibliografii
The subclass of triglyceride -rich lipoproteins - remnant -like particles (RLP) seems to be strong and independent risk factor for cardiovascular disease. We eva luated the role of RLP and other risk factors (RF) with sonographically measured intima - media thickness of carotid arteries (IMT CCA) in a cohort of Czech population including women defined according to the time after menopause. We investigated relation of IMT CCA to age, weight, central obesity, plasma lipids including remnant -like particles cholesterol (RLP -C) and triglycerides (RLP -TG) in 136 men and 160 women. Using multiple linear regression analysis, significant association between IMT CCA and RLP -C was found in women 1 -7 years after menopause. In the whole group of women, only age and fasting blood glucose were independently associated with IMT CCA. In men only age significantly correlated wit h IMT CCA. Significant decrease of all plasma lipids betwe en 1988 and 1996 in men was detected, while in women significant increase in triglycerides and no change in non -HDL cholesterol was observed. RLP -C was the strongest independent RF for atherosclerosis in postmenopausal women but its as sociation with IMT CC A was limited to several years after menopause. In conclusion, women changing reproductive status could be more sensitive to atherogenic impact of remnant lipoproteins., J. Piťha, J. Kovář, Z. Škodová, R. Cífková, P. Stávek, L. Červenka, T. Šejda, V. Lánská, R. Poledne., and Obsahuje bibliografii
During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136 ® Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136 ® Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development of lipid metabolism disorders., J. A. Hubáček, J. Piťha, Z. Škodová, R. Poledne., and Obsahuje bibliografii