Apolipoprotein E and Apolipoprotein CI Polymorphisms in the
Czech Population: Almost Complete Linkage Disequilibrium of the
Less Frequent Alleles of Both Polymorphisms
J.A. HUBÁČEK1,3, J. PIŤHA2,
V. ADÁMKOVÁ2, Z. ŠKODOVÁ2, V. LÁNSKÁ1,
R. POLEDNE1,3
1Laboratory of Atherosclerosis Research,
Institute for Clinical and Experimental Medicine, 2Department
of Preventive Cardiology, Institute for Clinical and
Experimental Medicine and
3Centre for Experimental Cardiovascular
Research, Prague, Czech Republic
Received
October 9, 2001
Accepted May 27, 2002
Summary
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.
Key
words
Apolipoprotein E • Apolipoprotein CI • Genetic
polymorphism • Czech population • Cholesterol • Triglycerides
Reprint
requests
J. A. Hubáček,
Institute for Clinical and Experimental Medicine, Laboratory of
Atherosclerosis Research, Videnska 1958/9, 140 21 Prague 4,
Czech Republic . E-mail:
jaroslav.hubacek@medicon.cz
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