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

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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