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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RESULTS
Table 2 summarizes the allele frequencies of the
three groups. Of the fully functional alleles, the most
frequent variant was the wild type allele *1 (in 36.5%
of Macedonians, 33.0% of Romanies and 37.0% of Albanians),
followed by allele *2 (in 25.5% of Macedonians,
21.5% of Romanies and 25.5% of Albanians).
The decreased activity alleles were observed
in 23.5% of the Romany population, in 14.0% of
the Macedonian and in 11.5% of the Albanian. Four
decreased activity alleles were detected, i.e.,*9, *10,
*29 and *41, from which allele *41 stood out as the
most frequent variant. The frequency of the allele *41
in the Romanies (23.0%) is higher in comparison with
the Macedonians (11.0%) and Albanians (10.5%),
and this difference is statistically significant (p =0.002 and p = 0.0012, respectively). The *9 allele
was detected only in the Romany (0.5%) and the
Albanian population (0.5%), whereas the *10 allele
was present exclusively in the Macedonian and Albanian
population with frequencies of 1.5 and 0.5%,
respectively. The *29 allele was observed solely in
the Macedonian ethnic group (1.5%).
Non functional alleles were found in 30.0%
of the Albanians, 21.5% of the Macedonians and
17.5% of the Romanies. The non functional *4 allele
was found in 22.5% of the Albanians, 17.0% of the
Macedonians and 15.0% of the Romanies. Alleles
*3, *5 and *6 were present in 3.5, 2.5 and 1.5%,
respectively, of the Albanians, in 2.0, 1.5 and 1.0%,
respectively, of the Macedonians, and in 1.5, 0.5 and
0.5%, respectively, of the Romanies.
Five duplications (four *1xN alleles and one
*2xN allele) were identified in the Macedonian group.
Only one duplication was found in each of the Albanian
(*2xN) and Romany (*1xN) groups.
Table 3 summarizes the CYP2D6 genotypes and
corresponding phenotypes found in the three groups.
The *1/*2 genotype was present in 20.0% of the Macedonian
and in 17.0% of the Romany group. The*1/*4
genotype was present in 17.0% of the Albanian group.
We yielded statistically significant results for the frequency
of the genotypes *1/*41 and *2/*41, which
were found in 12.0 and 17.0%, respectively, of the
Romany and in 5.0% for each genotype in the Macedonians
(p = 0.013 and p = 0.0357, respectively) (Table 3).
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