<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Cytochrome <italic>P450 2D6</italic> (<italic>CYP2D6</italic>) is an enzyme of great importance for the metabolism of clinically used drugs. More than 100 variants of the <italic>CYP2D6</italic> gene have been identified so far. The aim of this study was to investigate the allele distribution of <italic>CYP2D6</italic> 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 <italic>*1</italic> and <italic>*2</italic>. The most common non functional allele in all groups was <italic>*4</italic> that was found in 22.5% of the Albanians. The most common allele with decreased activity was <italic>*41</italic> 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 <italic>CYP2D6</italic> gene locus is highly heterogeneous in these groups and that the prevalence of the <italic>CYP2D6</italic> allele variants and genotypes in the Republic of Macedonia is in accordance with that of other European populations.</p></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.

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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...

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia

Article Category: Original Article

Publicado en línea: 09 jul 2016

Páginas: 49 - 58

DOI: https://doi.org/10.1515/bjmg-2015-0086

Palabras clave
Allele, gene, Ethnic groups, Extensive metabolizers (EMs), Intermediate metabolizers (IMs), Poor metabolizers (PMs), Ultrarapid metabolizers (UMs)

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia

Article Category: Original Article

Publicado en línea: 09 jul 2016

Páginas: 49 - 58

DOI: https://doi.org/10.1515/bjmg-2015-0086

Palabras claveAllele, gene, Ethnic groups, Extensive metabolizers (EMs), Intermediate metabolizers (IMs), Poor metabolizers (PMs), Ultrarapid metabolizers (UMs)

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Palabras clave
Allele, gene, Ethnic groups, Extensive metabolizers (EMs), Intermediate metabolizers (IMs), Poor metabolizers (PMs), Ultrarapid metabolizers (UMs)