Affiliations: Department of Biochemistry and Medical Genetics,
Medical University of Silesia, Medykow Str 18, 40-752 Katowice, Poland | The First Department of Cardiology, Medical University
of Silesia, Ziolowa Str 45/47, 40-635 Katowice, Poland
Note: [] Corresponding author: Anna Balcerzyk, Medical University of
Silesia, Department of Biochemistry and Medical Genetics, Medyków 18,
40-752 Katowice, Poland. Tel.: +32 252 84 32; Fax: +32 252 84 32; E-mail:
abalcerzyk@slam.katowice.pl
Abstract: Background: Genetic susceptibility to CAD may be determined by
polymorphic variants of genes encoding isoforms involved in the processes
important in the pathogenesis of atherosclerosis, including lipids disorders.
Participation of single polymorphic variants is relatively small, however its
significance may increase in the presence of specific genetic or environmental
background. Aim: The aim of the study was an evaluation a possible
association between single polymorphic variants of PON1, APOE,
ABCA1 and PPARA genes and CAD and looking for specific multigene
genotype patterns which differentiate study groups. Materials and methods:
We studied 358 subjects:178 patients with angiographically confirmed CAD and
180 blood donors without history of CAD. Polymorphisms were genotyped using
PCR-RFLP method. Results: We observed statistically significant
differences in the frequencies of R allele and R allele carriers of PON1
gene between CAD and controls. The distribution of genotypes and alleles of
other analyzed genes did not differentiate the study groups, however the
presence of specific genotypes (APOE& ndash; ε3ε3,
ε3ε2, ABCA1 – AG, PPARA – GG) increased
the protective effect of R allele. Conclusion: The present study revealed
an independent protective association between carrier-state of PON1 R allele
and CAD. This protective effect was especially strong in the presence of
specific genotype arrangements of other analyzed genes.
