Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine.

Autor: Jmel H; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; University of Tunis El Manar, Tunis, Tunisia.; Genetic Typing DNA Service Pasteur Institute, Institut Pasteur de Tunis, Tunis, Tunisia., Sarno S; Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences (BiGeA), University of Bologna, Bologna, Italy., Giuliani C; Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences (BiGeA), University of Bologna, Bologna, Italy., Boukhalfa W; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; University of Tunis El Manar, Tunis, Tunisia., Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; University of Tunis El Manar, Tunis, Tunisia., Luiselli D; Laboratory of Ancient DNA (aDNALab), Department of Cultural Heritage (DBC), University of Bologna, Ravenna, Italy., Kefi R; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia. rym.kefi@pasteur.utm.tn.; University of Tunis El Manar, Tunis, Tunisia. rym.kefi@pasteur.utm.tn.; Genetic Typing DNA Service Pasteur Institute, Institut Pasteur de Tunis, Tunis, Tunisia. rym.kefi@pasteur.utm.tn.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Mar 10; Vol. 14 (1), pp. 5842. Date of Electronic Publication: 2024 Mar 10.
DOI: 10.1038/s41598-024-55239-7
Abstrakt: Adverse drug reactions (ADR) represent a significant contributor to morbidity and mortality, imposing a substantial financial burden. Genetic ancestry plays a crucial role in drug response. The aim of this study is to characterize the genetic variability of selected pharmacogenes involved with ADR in Tunisians and Italians, with a comparative analysis against global populations. A cohort of 135 healthy Tunisians and 737 Italians were genotyped using a SNP array. Variants located in 25 Very Important Pharmacogenes implicated in ADR were extracted from the genotyping data. Distribution analysis of common variants in Tunisian and Italian populations in comparison to 24 publicly available worldwide populations was performed using PLINK and R software. Results from Principle Component and ADMIXTURE analyses showed a high genetic similarity among Mediterranean populations, distinguishing them from Sub-Saharan African and Asian populations. The Fst comparative analysis identified 27 variants exhibiting significant differentiation between the studied populations. Among these variants, four SNPs rs622342, rs3846662, rs7294, rs5215 located in SLC22A1, HMGCR, VKORC1 and KCNJ11 genes respectively, are reported to be associated with ethnic variability in drug responses. In conclusion, correlating the frequencies of genotype risk variants with their associated ADRs would enhance drug outcomes and the implementation of personalized medicine in the studied populations.
(© 2024. The Author(s).)
Databáze: MEDLINE
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