CYP2D6 ALLELE DISTRIBUTION IN MACEDONIANS,
ALBANIANS AND ROMANIES IN THE
REPUBLIC OF MACEDONIA
Kuzmanovska M, Dimishkovska M, Maleva Kostovska I, Noveski P,
Sukarova Stefanovska E, Plaseska-Karanfilska D*
*Corresponding Author: Dijana Plaseska-Karanfilska, M.D., Ph.D., Research Centre for Genetic Engineering
and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000
Skopje, Republic of Macedonia. Tel: +389-2-3235-410. Fax: +389-2-3115-434. E-mail: dijana@manu.edu.mk
page: 49
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Abstract
Cytochrome P450 2D6 (CYP2D6) is an enzyme
of great importance for the metabolism of clinically
used drugs. More than 100 variants of the CYP2D6
gene have been identified so far. The aim of this
study was to investigate the allele distribution of
CYP2D6 gene variants in 100 individuals of each of
the Macedonian, Albanian and Romany population,
by genotyping using long range polymerase chain
reaction (PCR) and a multiplex single base extension
method. The most frequent variants and almost
equally distributed in the three groups were the fully
functional alleles *1 and *2. The most common non
functional allele in all groups was *4 that was found
in 22.5% of the Albanians. The most common allele
with decreased activity was *41 which was found in
23.0% of the Romany ethnic group, in 11.0% of the
Macedonians and in 10.5% of the Albanians. Seven
percent of the Albanians, 6.0% of the Romani and
4.0% of the Macedonians were poor metabolizers,
while 5.0% of the Macedonians, 1.0% of Albanians
and 1.0% of the Romanies were ultrarapid metabolizers.
We concluded that the CYP2D6 gene locus is
highly heterogeneous in these groups and that the
prevalence of the CYP2D6 allele variants and genotypes
in the Republic of Macedonia is in accordance
with that of other European populations.
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