Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations

Background CYP3A5 enzyme encoded by CYP3A5 is important for drug metabolism in gut and liver, whereas P-glycoprotein by ABCB1, is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell. Aim The study was to assess the prevalence of CYP3A5 alleles: *1, *2, *3,...

Full description

Bibliographic Details
Main Authors: Grazyna Adler, Izabela Uzar, Amina Valjevac, Emina Kiseljakovic, Emir Mahmutbegovic, Nermin N. Salkic, Mateusz A. Adler, Nevena Mahmutbegovic
Format: Article
Language:English
Published: Taylor & Francis Group 2022-05-01
Series:Annals of Human Biology
Subjects:
Online Access:http://dx.doi.org/10.1080/03014460.2022.2100477
_version_ 1797685168650059776
author Grazyna Adler
Izabela Uzar
Amina Valjevac
Emina Kiseljakovic
Emir Mahmutbegovic
Nermin N. Salkic
Mateusz A. Adler
Nevena Mahmutbegovic
author_facet Grazyna Adler
Izabela Uzar
Amina Valjevac
Emina Kiseljakovic
Emir Mahmutbegovic
Nermin N. Salkic
Mateusz A. Adler
Nevena Mahmutbegovic
author_sort Grazyna Adler
collection DOAJ
description Background CYP3A5 enzyme encoded by CYP3A5 is important for drug metabolism in gut and liver, whereas P-glycoprotein by ABCB1, is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell. Aim The study was to assess the prevalence of CYP3A5 alleles: *1, *2, *3, *4, *6 and *7, and C and T of ABCB1 in Poles, Belarusians and Bosnians and to compare it with the data reported from other European populations. Subjects and methods Overall, 511 unrelated healthy subjects from Poland (n = 239), Belarus (n = 104) and Bosnia and Herzegovina (n = 168) were included in this study. Allele frequencies and statistical parameters (AMOVA version 2.9.3) were determined. Results In Poles, Belarusians and Bosnians the *3 allele of CYP3A5 was the most common, and wild-type allele *1, were: 5.8%, 1.6% and 2.1%, respectively. Allele *2 was very rare, and alleles *4, *6 and *7 were not detected. For the populations mentioned above, the ABCB1 allele C was: 48.1%, 51.4%, 52.4%, respectively. Conclusion In compared populations, the distribution of CYP3A5 variants but not ABCB1, differed significantly. Alleles *4, *6 and *7 of CYP3A5 did not occur or occurred rarely.
first_indexed 2024-03-12T00:40:14Z
format Article
id doaj.art-5e06c2c236cc4e47895c4453cb573cf0
institution Directory Open Access Journal
issn 0301-4460
1464-5033
language English
last_indexed 2024-03-12T00:40:14Z
publishDate 2022-05-01
publisher Taylor & Francis Group
record_format Article
series Annals of Human Biology
spelling doaj.art-5e06c2c236cc4e47895c4453cb573cf02023-09-15T08:45:20ZengTaylor & Francis GroupAnnals of Human Biology0301-44601464-50332022-05-01493-421021510.1080/03014460.2022.21004772100477Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populationsGrazyna Adler0Izabela Uzar1Amina Valjevac2Emina Kiseljakovic3Emir Mahmutbegovic4Nermin N. Salkic5Mateusz A. Adler6Nevena Mahmutbegovic7Department of Studies in Antropogenetics and Biogerontology, Pomeranian Medical UniversityDepartment of General Pharmacology and Pharmacoeconomics, Pomeranian Medical UniversityDepartment of Human Physiology, Faculty of Medicine, University of SarajevoDepartment of Medical Biochemistry, Faculty of Medicine, University of SarajevoInstitution of Health Protection of Women and Motherhood Canton SarajevoDepartment of Gastroenterology and Hepatology, University Clinical Centre TuzlaCredit Suisse, sp. z o.oNeurology Clinic, Clinical Center of University of SarajevoBackground CYP3A5 enzyme encoded by CYP3A5 is important for drug metabolism in gut and liver, whereas P-glycoprotein by ABCB1, is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell. Aim The study was to assess the prevalence of CYP3A5 alleles: *1, *2, *3, *4, *6 and *7, and C and T of ABCB1 in Poles, Belarusians and Bosnians and to compare it with the data reported from other European populations. Subjects and methods Overall, 511 unrelated healthy subjects from Poland (n = 239), Belarus (n = 104) and Bosnia and Herzegovina (n = 168) were included in this study. Allele frequencies and statistical parameters (AMOVA version 2.9.3) were determined. Results In Poles, Belarusians and Bosnians the *3 allele of CYP3A5 was the most common, and wild-type allele *1, were: 5.8%, 1.6% and 2.1%, respectively. Allele *2 was very rare, and alleles *4, *6 and *7 were not detected. For the populations mentioned above, the ABCB1 allele C was: 48.1%, 51.4%, 52.4%, respectively. Conclusion In compared populations, the distribution of CYP3A5 variants but not ABCB1, differed significantly. Alleles *4, *6 and *7 of CYP3A5 did not occur or occurred rarely.http://dx.doi.org/10.1080/03014460.2022.2100477snpscytochrome p450 3a5atp-binding cassette b1pharmacogenetics
spellingShingle Grazyna Adler
Izabela Uzar
Amina Valjevac
Emina Kiseljakovic
Emir Mahmutbegovic
Nermin N. Salkic
Mateusz A. Adler
Nevena Mahmutbegovic
Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
Annals of Human Biology
snps
cytochrome p450 3a5
atp-binding cassette b1
pharmacogenetics
title Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
title_full Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
title_fullStr Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
title_full_unstemmed Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
title_short Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations
title_sort genetic diversity of cyp3a5 and abcb1 variants in east central and south european populations
topic snps
cytochrome p450 3a5
atp-binding cassette b1
pharmacogenetics
url http://dx.doi.org/10.1080/03014460.2022.2100477
work_keys_str_mv AT grazynaadler geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT izabelauzar geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT aminavaljevac geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT eminakiseljakovic geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT emirmahmutbegovic geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT nerminnsalkic geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT mateuszaadler geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations
AT nevenamahmutbegovic geneticdiversityofcyp3a5andabcb1variantsineastcentralandsoutheuropeanpopulations