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Pharmaceuticals
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Pharmacogenomics for Precision Medicine
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Pharmacogenomics for Precision Medicine

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: 25 March 2025 | Viewed by 2954

Special Issue Editor

Dr. Vacis Tatarūnas

E-Mail Website
Guest Editor
Institute of Cardiology, Medical Academy, Lithuanian University of Health Sciences, Sukilėlių g. 15, LT-50009 Kaunas, Lithuania
Interests: pharmacogenomics; precision medicine; antiplatelets; anticoagulants; drug metabolism

Special Issue Information

Dear Colleagues,

Pharmacogenomics is an advanced method of customizing medications to individual patients based on their unique genetic makeup. Rather than relying on a one-size-fits-all approach, this technique considers individual variability. While genetic, epigenetic, and gene-expression variability were once believed to be independent factors of phenotype variation, recent studies have shown that they work in tandem to produce distinct effects of medication on an individual.

Although research has highlighted the significance of genetic factors in drug effects, the widespread use of pharmacogenomics data remains uncommon in many countries. This may be due to several factors, such as researchers' inconsistent interpretation of data or difficulties understanding and applying these results to precision medicine.

This issue invites new research articles representing pharmacogenomics knowledge use in clinical practice (such as a part of precision medicine), economic evaluations of drugs or methods used in therapy, and innovative approaches to educate clinical personnel and high school students on pharmacogenomics and precise treatment.

Dr. Vacis Tatarūnas
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. Pharmaceuticals is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). 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

  • pharmacogenomics in precise therapy
  • tailored medicine
  • pharmacoeconomics
  • personalized medicine
  • education in pharmacogenomics and precise medicine
  • future directions in pharmacogenomics
  • pharmacogenomics and phenotype
  • genotype, epigenetic variation, and gene expression axis in pharmacogenomics

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Published Papers (3 papers)

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Research

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13 pages, 1631 KiB  
Article
Exome Sequence Data of Eight SLC Transporters Reveal That SLC22A1 and SLC22A3 Variants Alter Metformin Pharmacokinetics and Glycemic Control
by Monserrat I. Morales-Rivera, Radamés Alemón-Medina, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Nelly F. Altamirano-Bustamante, Josefina Gómez-Garduño, Elvia C. Mendoza-Caamal, J. Orlando Nuñez-González, Raquel García-Álvarez, Cristina Revilla-Monsalve, José Antonio Valcarcel-Gamiño, José Rafael Villafan-Bernal, Federico Centeno-Cruz, Humberto García-Ortiz, Francisco Barajas-Olmos and Lorena Orozco
Pharmaceuticals 2024, 17(10), 1385; https://doi.org/10.3390/ph17101385 - 17 Oct 2024
Viewed by 793
Abstract
Background: Type 2 diabetes (T2D) is one of the leading causes of mortality and is a public health challenge worldwide. Metformin is the first-choice treatment for T2D; its pharmacokinetics (PK) is facilitated by members of the solute carrier (SLC) superfamily of transporters, [...] Read more.
Background: Type 2 diabetes (T2D) is one of the leading causes of mortality and is a public health challenge worldwide. Metformin is the first-choice treatment for T2D; its pharmacokinetics (PK) is facilitated by members of the solute carrier (SLC) superfamily of transporters, it is not metabolized, and it is excreted by the kidney. Although interindividual variability in metformin pharmacokinetics is documented in the Mexican population, its pharmacogenomics is still underexplored. We aimed to identify variants in metformin SLC transporter genes associated with metformin PK and response in Mexican patients. Methods: Using exome data from 2217 Mexican adults, we identified 86 biallelic SNVs in the eight known genes encoding SLC transporters, with a minor allele frequency ≥ 1%, which were analyzed in an inadequate glycemic control (IGC) association study in T2D metformin treated patients. Metformin PK was evaluated in a pediatric cohort and the effect of associated SNVs was correlated. Results: Functional annotation classified two SNVs as pathogenic. The association study revealed two blocks associated with IGC. These haplotypes comprise rs622591, rs4646272, rs4646273, and rs4646276 in SLC22A1; and rs1810126 and rs668871 in SLC22A3. PK profiles revealed that homozygotes of the SLC22A1 haplotype reached lower plasma metformin concentrations 2 h post administration than the other groups. Conclusions: Our findings highlight the potential of pharmacogenomics studies to enhance precision medicine, which may involve dosage adjustments or the exploration of alternative therapeutic options. These hold significant implications for public health, particularly in populations with a high susceptibility to develop metabolic diseases, such as Latin Americans. Full article
(This article belongs to the Special Issue Pharmacogenomics for Precision Medicine)
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13 pages, 292 KiB  
Article
An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers
by Andrea Rodríguez-Lopez, Dolores Ochoa, Paula Soria-Chacartegui, Samuel Martín-Vilchez, Marcos Navares-Gómez, Eva González-Iglesias, Sergio Luquero-Bueno, Manuel Román, Gina Mejía-Abril and Francisco Abad-Santos
Pharmaceuticals 2024, 17(9), 1236; https://doi.org/10.3390/ph17091236 - 19 Sep 2024
Viewed by 711
Abstract
Introduction: Fesoterodine is one of the most widely used antimuscarinic drugs to treat an overactive bladder. Fesoterodine is extensively hydrolyzed by esterases to 5-hydroxymethyl tolterodine (5-HMT), the major active metabolite. CYP2D6 and CYP3A4 mainly metabolize 5-HMT and are, therefore, the primary pharmacogenetic candidate [...] Read more.
Introduction: Fesoterodine is one of the most widely used antimuscarinic drugs to treat an overactive bladder. Fesoterodine is extensively hydrolyzed by esterases to 5-hydroxymethyl tolterodine (5-HMT), the major active metabolite. CYP2D6 and CYP3A4 mainly metabolize 5-HMT and are, therefore, the primary pharmacogenetic candidate biomarkers. Materials and Methods: This is a candidate gene study designed to investigate the effects of 120 polymorphisms in 33 genes (including the CYP, COMT, UGT, NAT2, and CES enzymes, ABC and SLC transporters, and 5-HT receptors) on fesoterodine pharmacokinetics and their safety in 39 healthy volunteers from three bioequivalence trials. Results: An association between 5-HMT exposure (dose/weight corrected area under the curve (AUC/DW) and dose/weight corrected maximum plasma concentration (Cmax/DW)), elimination (terminal half-life (T1/2) and the total drug clearance adjusted for bioavailability (Cl/F)), and CYP2D6 activity was observed. Poor/intermediate metabolizers (PMs/IMs) had higher 5-HMT AUC/DW (1.5-fold) and Cmax/DW (1.4-fold) values than the normal metabolizers (NMs); in addition, the normal metabolizers (NMs) had higher 5-HMT AUC/DW (1.7-fold) and Cmax/DW (1.3-fold) values than the ultrarapid metabolizers (UMs). Lower 5-HMT exposure and higher T1/2 were observed for the CYP3A4 IMs compared to the NMs, contrary to our expectations. Conclusions: CYP2D6 might have a more important role than CYP3A4 in fesoterodine pharmacokinetics, and its phenotype might be a better predictor of variation in its pharmacokinetics. An association was observed between different genetic variants of different genes of the UGT family and AUC, Cmax, and CL/F of 5-HMT, which should be confirmed in other studies. Full article
(This article belongs to the Special Issue Pharmacogenomics for Precision Medicine)

Other

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8 pages, 687 KiB  
Case Report
Gefitinib-Induced Severe Dermatological Adverse Reactions: A Case Report and Pharmacogenetic Profile
by Mariana Vieira Morau, Cecilia Souto Seguin, Mauricio Wesley Perroud Junior, Carolina Dagli-Hernandez, Eder de Carvalho Pincinato and Patricia Moriel
Pharmaceuticals 2024, 17(8), 1040; https://doi.org/10.3390/ph17081040 - 7 Aug 2024
Cited by 1 | Viewed by 992
Abstract
Gefitinib is a selective inhibitor of the epidermal growth factor receptor that is used to treat advanced and metastatic non-small cell lung cancer (NSCLC). Dermatological adverse reactions are most commonly associated with gefitinib treatment. The cause of adverse reactions in individuals is multifactorial. [...] Read more.
Gefitinib is a selective inhibitor of the epidermal growth factor receptor that is used to treat advanced and metastatic non-small cell lung cancer (NSCLC). Dermatological adverse reactions are most commonly associated with gefitinib treatment. The cause of adverse reactions in individuals is multifactorial. Pharmacogenetics is an effective tool to detect such adverse reactions. This case report describes a female patient with NSCLC who was administered gefitinib at a dose of 250 mg/day. However, due to severe adverse dermatological reactions, the treatment was interrupted for 15 d and antibiotic therapy was administered to manage the skin rashes, maculopapular rashes, and hyperpigmentation. Treatment adherence was adequate, and no drug interactions were detected. A pharmacogenetic analysis revealed homozygosity in the ATP-binding cassette (ABC)-B1 rs1128503 (c.1236A>G), heterozygosity in ABCG2 rs2231142 (c.421G>T) and rs2622604 (c.-20+614T>C), and a non-functional variant of the cytochrome P450 family 3, subfamily A, member 5 (CYP3A5). The relationship between altered genetic variants and the presence of adverse reactions induced by gefitinib is still controversial. Overall, this case report highlights the importance of continuing to study pharmacogenetics as predictors of adverse drug reactions. Full article
(This article belongs to the Special Issue Pharmacogenomics for Precision Medicine)
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