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Advances in Integration of Pharmacogenetics into Practice
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Advances in Integration of Pharmacogenetics into Practice

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pharmacology".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 3215

Special Issue Editor

Prof. Dr. Dragan Primorac

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Guest Editor
1. Center for Personalised Medicine, St Catherine Hospital, 10000 Zagreb, Croatia
2. Eberly College of Science, The Pennsylvania State University, University Park, PA 16802, USA
3. Medical Schools in Split, Osijek, and Rijeka, Croatia; Medical School Regiomed, 96450 Coburg, Germany
Interests: genetics; regenerative medicine; pharmacogenetics; pediatrics; mesenchymal stem cells treatment; forensic genetics; origin of modern humans
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pharmacogenomics (PGx) is one of the core elements of personalized medicine. PGx information reduces the likelihood of adverse drug reactions and optimizes therapeutic efficacy. The effect of genetic variation plays a major role in drug response variability and can range from serious, potentially life-threatening adverse drug reactions to a lack of therapeutic efficacy. Considering the challenges in contemporary medicine, knowledge about the influence of genetic variation on drug response might be of great importance in predicting therapeutic outcomes. Dosage adjustments according to the patient’s genotype for certain drugs and drug classes have already been implemented in relevant clinical guidelines.

This Special Issue of IJMS will place a special emphasis on the role of PGx in therapy optimization, as well as on related opportunities and limitations. We welcome original research articles, as well as reviews addressing different issues related to PGx. All submitted articles must be related to molecular studies.

Topics of interest include, but are not limited to, the following:

  • Challenges and perspective of pharmacogenomics in the era of big data;
  • Pharmacodynamic and pharmacokinetic variations and drug efficacy;
  • Drug–drug interactions in pharmacogenomics;
  • Pharmacogenomics and epigenomics;
  • Population pharmacogenomics for precision medicine;
  • Genetic variation: Pharmacogenomic studies in different populations;
  • Integration of pharmacogenomics and pharmacometrics to support drug development and therapeutic decisions.

We look forward to your contribution.

Prof. Dr. Dragan Primorac
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • precision medicine
  • pharmacogenomics
  • clinical implementation
  • genomics
  • drugs
  • therapy optimization
  • epigenetics

Published Papers (2 papers)

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Research

21 pages, 283 KiB  
Article
Population Pharmacogenomics in Croatia: Evaluating the PGx Allele Frequency and the Impact of Treatment Efficiency
by Vid Matišić, Petar Brlek, Luka Bulić, Vilim Molnar, Marina Dasović and Dragan Primorac
Int. J. Mol. Sci. 2023, 24(17), 13498; https://doi.org/10.3390/ijms241713498 - 31 Aug 2023
Cited by 1 | Viewed by 1121
Abstract
Background: Adverse drug reactions (ADRs) are a significant cause of mortality, and pharmacogenomics (PGx) offers the potential to optimize therapeutic efficacy while minimizing ADRs. However, there is a lack of data on the Croatian population, highlighting the need for investigating the most common [...] Read more.
Background: Adverse drug reactions (ADRs) are a significant cause of mortality, and pharmacogenomics (PGx) offers the potential to optimize therapeutic efficacy while minimizing ADRs. However, there is a lack of data on the Croatian population, highlighting the need for investigating the most common alleles, genotypes, and phenotypes to establish national guidelines for drug use. Methods: A single-center retrospective cross-sectional study was performed to examine the allele, genotype, and phenotype frequencies of drug-metabolizing enzymes, receptors, and other proteins in a random sample of 522 patients from Croatia using a 28-gene PGx panel. Results: Allele frequencies, genotypes, and phenotypes for the investigated genes were determined. No statistically significant differences were found between the Croatian and European populations for most analyzed genes. The most common genotypes observed in the patients resulted in normal metabolism rates. However, some genes showed higher frequencies of altered metabolism rates. Conclusions: This study provides insights into the allele, genotype, and phenotype frequencies of drug-metabolizing enzymes, receptors, and other associated proteins in the Croatian population. The findings contribute to optimizing drug use guidelines, potentially reducing ADRs, and improving therapeutic efficacy. Further research is needed to tailor population-specific interventions based on these findings and their long-term benefits. Full article
(This article belongs to the Special Issue Advances in Integration of Pharmacogenetics into Practice)
12 pages, 1090 KiB  
Article
Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population
by Jordi Olloquequi, Patricia Castro-Santos and Roberto Díaz-Peña
Int. J. Mol. Sci. 2022, 23(19), 11758; https://doi.org/10.3390/ijms231911758 - 04 Oct 2022
Viewed by 1636
Abstract
Latin-American populations have been largely underrepresented in genomic studies of drug response and disease susceptibility. In this paper, we present a genome-wide Chilean dataset from Talca based on the Illumina Global Screening Array. This let us to compare the frequency of gene variants [...] Read more.
Latin-American populations have been largely underrepresented in genomic studies of drug response and disease susceptibility. In this paper, we present a genome-wide Chilean dataset from Talca based on the Illumina Global Screening Array. This let us to compare the frequency of gene variants involved in response to drugs among our population and others, taking data from the 1000 Genomes Project. We found four single-nucleotide polymorphisms with low prevalence in Chileans when compared with African, Amerindian, East and South Asian, and European populations: rs2819742 (RYR2), rs2631367 (SLC22A5), rs1063320 (HLA-G), and rs1042522 (TP53). Moreover, two markers showed significant differences between lower and higher proportion of Mapuche ancestry groups: rs1719247 (located in an intergenic region in chromosome 15; p-value = 6.17 × 10−5, Bonferroni corrected p-value = 0.02) and rs738409 (A nonsynonymous gene variant in the PNPLA3 gene; p-value = 9.02 × 10−5, Bonferroni corrected p-value = 0.04). All of these polymorphisms have been shown to be associated with diverse pathologies, such as asthma, cancer, or chronic hepatitis B, or to be involved in a different response to drugs, such as metformin, HMG-CoA reductase inhibitors, or simvastatin. The present work provides a pharmacogenetic landscape of an understudied Latin American rural population and supports the notion that pharmacogenetic studies in admixed populations should consider ancestry for a higher accuracy of the results. Our study stresses the relevance of the pharmacogenomic research to provide guidance for a better choice of the best treatment for each individual in a population with admixed ancestry. Full article
(This article belongs to the Special Issue Advances in Integration of Pharmacogenetics into Practice)
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