Advances in Pharmacogenomic Studies

A special issue of Pharmaceutics (ISSN 1999-4923). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: closed (31 May 2024) | Viewed by 5053

Special Issue Editor


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Guest Editor
Laboratory of Chemical Carcinogenesis and Pharmacogenetics (CQF), Department of Basic and Clinical Oncology (DOBC), Faculty of Medicine, University of Chile, Santiago, Chile
Interests: pharmacogenomics; toxicogenomics; personalized medicine; polymorphisms; drug variability

Special Issue Information

Dear Colleagues,

Pharmacogenomics (PGx) is a field of pharmacology that addresses how genetic factors contribute to the body’s response to given medications. This informs prescribing decisions and facilitates the tailoring of patient-specific drug regimens, thus improving clinical responses. Today, PGx is a well-stablished discipline in several developed countries with some clinical applications, but it is considered emergent in developing countries, and has almost no applications in undeveloped countries. This illustrates unequal development in this important field, which is an issue in many countries where this discipline could prove cost-effective or even cost-saving. Since the first publication of the term “pharmacogenetics”, which was coined by Friedrich Vogel in 1959, advances in this field have helped unravel the “mysteries” of variable responses to the same medications, and the role of ethnicity in this disparity.

This Special Issue addresses the current state of pharmacogenomics, precision medicine approaches to improving drug therapies, and challenges that must be overcome to enable their clinical application. Updated research on PGx and its clinical applications is required. To this end, this Special Issue encourages researchers to submit up-to-date original research, meta-analyses, systematic reviews, case reports, clinical trials, and specific reviews on this topic.

Dr. Luis Abel Quiñones
Guest Editor

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Keywords

  • pharmacogenomics
  • pharmacogenetics
  • precision medicine
  • personalized medicine
  • polymorphisms
  • drug variability

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Published Papers (3 papers)

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Research

18 pages, 1025 KiB  
Article
Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population
by Gareth I. Owen, Miguel Cordova-Delgado, Bernabé I. Bustos, Leslie C. Cerpa, Pamela Gonzalez, Sebastián Morales-Pison, Benjamín Garcia-Bloj, Marcelo Garrido, Juan Francisco Miquel and Luis A. Quiñones
Pharmaceutics 2024, 16(4), 561; https://doi.org/10.3390/pharmaceutics16040561 - 19 Apr 2024
Viewed by 1213
Abstract
Background: Pharmacogenomic knowledge as a biomarker for cancer care has transformed clinical practice, however, as current guidelines are primarily derived from Eurocentric populations, this limits their application in Latin America, particularly among Hispanic or Latino groups. Despite advancements, systemic chemotherapy still poses challenges [...] Read more.
Background: Pharmacogenomic knowledge as a biomarker for cancer care has transformed clinical practice, however, as current guidelines are primarily derived from Eurocentric populations, this limits their application in Latin America, particularly among Hispanic or Latino groups. Despite advancements, systemic chemotherapy still poses challenges in drug toxicity and suboptimal response. This study explores pharmacogenetic markers related to anticancer drugs in a Chilean cohort, filling a gap in Latin American research. Notably, the influence of native South American Mapuche-Huilliche ancestry. Methods: To explore pharmacogenetic markers related to anticancer drugs, we utilized an ethnically Admixed Chilean genome-wide association studies (GWAS) dataset of 1095 unrelated individuals. Pharmacogenomic markers were selected from PharmGKB, totaling 36 level 1 and 2 evidence single nucleotide polymorphisms (SNPs) and 571 level 3 SNPs. Comparative analyses involved assessing SNP frequencies across diverse populations from the 1000 Genomes Project. Haplotypes were estimated, and linkage disequilibrium was examined. Ancestry-based association analyses explored relationships between SNPs and Mapuche-Huilliche and European ancestries. Chi-square distribution with p ≤ 0.05 and Bonferroni’s multiple adjustment tests determined statistical differences between allele frequencies. Results: Our study reveals significant disparities in SNP frequency within the Chilean population. Notably, dihydropyrimidine dehydrogenase (DPYD) variants (rs75017182 and rs67376798), linked to an increased risk of severe fluoropyrimidine toxicity, exhibit an exceptionally low frequency (minor allele frequency (MAF) < 0.005). Nudix hydrolase 15 (NUDT15) rs116855232, associated with hematological mercaptopurine toxicity, is relatively common (MAF = 0.062), and is further linked to Mapuche-Huilliche ancestry. Thiopurine methyltransferase enzyme (TPMT), implicated in severe toxicity to mercaptopurines, SNPs rs1142345 and rs1800460 of TMPT gene demonstrate higher MAFs in Admixed Americans and the Chilean population (MAF range 0.031–0.057). Finally, the variant in the UDP-glucuronosyltransferase 1 gene (UGT1A1) rs4148323, correlated with irinotecan neutropenia, exhibits the highest MAF in East Asian (MAF = 0.136) and Chilean (MAF = 0.025) populations, distinguishing them from other investigated populations. Conclusions: This study provides the first comprehensive pharmacogenetic characterization of cancer therapy-related SNPs and highlights significant disparities in SNP frequencies within the Chilean population. Our findings underscore the necessity for inclusive research and personalized therapeutic strategies to ensure the equitable and effective application of precision medicine across diverse global communities. Full article
(This article belongs to the Special Issue Advances in Pharmacogenomic Studies)
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17 pages, 3410 KiB  
Article
Pharmacogenomic Studies of Antiviral Drug Favipiravir
by Victoria V. Shumyantseva, Tatiana V. Bulko, Alexey A. Chistov, Ekaterina F. Kolesanova and Lyubov E. Agafonova
Pharmaceutics 2024, 16(4), 503; https://doi.org/10.3390/pharmaceutics16040503 - 7 Apr 2024
Cited by 1 | Viewed by 1270
Abstract
In this work, we conducted a study of the interaction between DNA and favipiravir (FAV). This chemotherapeutic compound is an antiviral drug for the treatment of COVID-19 and other infections caused by RNA viruses. This paper examines the electroanalytical characteristics of FAV. The [...] Read more.
In this work, we conducted a study of the interaction between DNA and favipiravir (FAV). This chemotherapeutic compound is an antiviral drug for the treatment of COVID-19 and other infections caused by RNA viruses. This paper examines the electroanalytical characteristics of FAV. The determined concentrations correspond to therapeutically significant ones in the range of 50–500 µM (R2 = 0.943). We have shown that FAV can be electro-oxidized around the potential of +0.96 V ÷ +0.98 V (vs. Ag/AgCl). A mechanism for electrochemical oxidation of FAV was proposed. The effect of the drug on DNA was recorded as changes in the intensity of electrochemical oxidation of heterocyclic nucleobases (guanine, adenine and thymine) using screen-printed graphite electrodes modified with single-walled carbon nanotubes and titanium oxide nanoparticles. In this work, the binding constants (Kb) of FAV/dsDNA complexes for guanine, adenine and thymine were calculated. The values of the DNA-mediated electrochemical decline coefficient were calculated as the ratio of the intensity of signals for the electrochemical oxidation of guanine, adenine and thymine in the presence of FAV to the intensity of signals for the electro-oxidation of these bases without drug (S, %). Based on the analysis of electrochemical parameters, values of binding constants and spectral data, intercalation was proposed as the principal mechanism of the antiviral drug FAV interaction with DNA. The interaction with calf thymus DNA also confirmed the intercalation mechanism. However, an additional mode of interaction, such as a damage effect together with electrostatic interactions, was revealed in a prolonged exposure of DNA to FAV. Full article
(This article belongs to the Special Issue Advances in Pharmacogenomic Studies)
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16 pages, 3151 KiB  
Article
The Status Quo of Pharmacogenomics of Tyrosine Kinase Inhibitors in Precision Oncology: A Bibliometric Analysis of the Literature
by Abdallah Alzoubi, Hassan Shirazi, Ahmad Alrawashdeh, Arwa M. AL-Dekah, Nadia Ibraheem and Khalid A. Kheirallah
Pharmaceutics 2024, 16(2), 167; https://doi.org/10.3390/pharmaceutics16020167 - 25 Jan 2024
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Abstract
Precision oncology and pharmacogenomics (PGx) intersect in their overarching goal to institute the right treatment for the right patient. However, the translation of these innovations into clinical practice is still lagging behind. Therefore, this study aimed to analyze the current state of research [...] Read more.
Precision oncology and pharmacogenomics (PGx) intersect in their overarching goal to institute the right treatment for the right patient. However, the translation of these innovations into clinical practice is still lagging behind. Therefore, this study aimed to analyze the current state of research and to predict the future directions of applied PGx in the field of precision oncology as represented by the targeted therapy class of tyrosine kinase inhibitors (TKIs). Advanced bibliometric and scientometric analyses of the literature were performed. The Scopus database was used for the search, and articles published between 2001 and 2023 were extracted. Information about productivity, citations, cluster analysis, keyword co-occurrence, trend topics, and thematic evolution were generated. A total of 448 research articles were included in this analysis. A burst of scholarly activity in the field was noted by the year 2005, peaking in 2017, followed by a remarkable decline to date. Research in the field was hallmarked by consistent and impactful international collaboration, with the US leading in terms of most prolific country, institutions, and total link strength. Thematic evolution in the field points in the direction of more specialized studies on applied pharmacokinetics of available and novel TKIs, particularly for the treatment of lung and breast cancers. Our results delineate a significant advancement in the field of PGx in precision oncology. Notwithstanding the practical challenges to these applications at the point of care, further research, standardization, infrastructure development, and informed policymaking are urgently needed to ensure widespread adoption of PGx. Full article
(This article belongs to the Special Issue Advances in Pharmacogenomic Studies)
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