AI Article Synopsis

  • * This study focused on analyzing genetic variations related to ADR in healthy cohorts from Tunisia (135 participants) and Italy (737 participants) through a SNP array, comparing these against data from global populations.
  • * Results indicated strong genetic similarities within Mediterranean populations but notable differences compared to other regions, identifying 27 variants with significant population differentiation that can help improve personalized medicine approaches in treating ADRs.

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925599PMC
http://dx.doi.org/10.1038/s41598-024-55239-7DOI Listing

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