Relevance of Gene Expression of Pharmacogenes for Drug Response and Toxicity

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: closed (4 April 2022) | Viewed by 2963

Special Issue Editors


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Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy
Interests: sex-gender pharmacology; biomarkers; metabolism; cell signalling; autophagy and apoptosis
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Department of Biomedical Science, University of Sassari, Sassari, Italy
Interests: medical genetics; bioinformatics; computational genomics
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Institute of Genetic and Biomedical Research, CNR, Sassari, Italy
Interests: medical genetics; functional genomics; molecular biology; RNA regulation; gene expression regulation; non coding RNA
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Guest Editor
Institute of Genetic and Biomedical Research, CNR, Monserrato, Italy
Interests: Medical genetics; Functional genomics; Molecular biology; RNA regulation; Gene expression regulation; Non coding RNA

Special Issue Information

Dear Colleagues,

The identification of new cellular and molecular pathways is fundamental to deeply understand the molecular mechanisms underlying individual differences in drug response and toxicity.

The achievement of high-throughput technologies, and large-scale RNA expression projects, such as ENCODE and Genotype-Tissue Expression (GTEx), is driving remarkable change in the field.

Indeed, the large amount of genomic data available today represents a key component for the identification of clinically relevant differences implicated in drug response and, thus, in achieving personalized therapies.

The rising interest in personalized medicine in clinical practice is, in fact, essential to understanding the impact of individual variability on the incidence and manifestation of diseases and, therefore, to adapting therapies in a targeted manner to reduce the occurrence of adverse drug reactions.

Such a need is further reinforced by the fact that more than 95% of patients carry at least 1 actionable pharmacogene.

The aim of this Special Issue is to increase our knowledge and comprehension regarding the modulation of gene expression of pharmacogenes, particularly with regard to (i) the functional consequences of pharmacogenetic relevant variants and (ii) the practical implications in terms of precision medicine and reduction of adverse drug reactions.

Experts and beginners are welcome to contribute to this Special Issue focused on:

  • Mechanisms of gene expression involving key genes implicated in drug response and toxicity;
  • Splicing defects in pharmacogenes;
  • Non-coding RNAs implicated in drug metabolism, response, and toxicity;
  • Identification of inter-individual and inter-population differences in gene expression of pharmacogenes.

Meta-analyses of current knowledge around this topic are encouraged.

Dr. Ilaria Campesi
Prof. Dr. Matteo Floris
Dr. Maria Laura Idda
Dr. Magdalena Zoledziewska
Guest Editors

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Keywords

  • gene expression
  • pharmacogenetics
  • pharmacogene
  • ncRNAs
  • personalized medicine
  • drug response

Published Papers (1 paper)

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Research

13 pages, 1222 KiB  
Article
Sex-Biased Expression of Pharmacogenes across Human Tissues
by Maria Laura Idda, Ilaria Campesi, Giovanni Fiorito, Andrea Vecchietti, Silvana Anna Maria Urru, Maria Giuliana Solinas, Flavia Franconi and Matteo Floris
Biomolecules 2021, 11(8), 1206; https://doi.org/10.3390/biom11081206 - 13 Aug 2021
Cited by 5 | Viewed by 2483
Abstract
Individual response to drugs is highly variable and largely influenced by genetic variants and gene-expression profiles. In addition, it has been shown that response to drugs is strongly sex-dependent, both in terms of efficacy and toxicity. To expand current knowledge on sex differences [...] Read more.
Individual response to drugs is highly variable and largely influenced by genetic variants and gene-expression profiles. In addition, it has been shown that response to drugs is strongly sex-dependent, both in terms of efficacy and toxicity. To expand current knowledge on sex differences in the expression of genes relevant for drug response, we generated a catalogue of differentially expressed human transcripts encoded by 289 genes in 41 human tissues from 838 adult individuals of the Genotype-Tissue Expression project (GTEx, v8 release) and focused our analysis on relevant transcripts implicated in drug response. We detected significant sex-differentiated expression of 99 transcripts encoded by 59 genes in the tissues most relevant for human pharmacology (liver, lung, kidney, small intestine terminal ileum, skin not sun-exposed, and whole blood). Among them, as expected, we confirmed significant differences in the expression of transcripts encoded by the cytochromes in the liver, CYP2B6, CYP3A7, CYP3A5, and CYP1A1. Our systematic investigation on differences between male and female in the expression of drug response-related genes, reinforce the need to overcome the sex bias of clinical trials. Full article
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