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Pharmacogenomics and Personalized Treatment
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Pharmacogenomics and Personalized Treatment

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Pharmacogenetics".

Deadline for manuscript submissions: 10 November 2025 | Viewed by 281

Special Issue Editors

Dr. Livija Šimičević

E-Mail Website
Guest Editor
1. Department of Medical Chemistry, Biochemistry and Clinical Chemistry, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia
2. Division for Pharmacogenomics and Therapy Individualization, Department of Laboratory Diagnostics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia
Interests: pharmacogenetics; pharmacogenomics; gene–drug interactions; adverse drug reactions; molecular medicine
Dr. Lana Ganoci

E-Mail Website
Guest Editor
Division of Pharmacogenomics and Therapy Individualization, Department of Laboratory Diagnostics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia
Interests: pharmacogenetics; pharmacogenomics; gene-drug interactions; adverse drugs reactions; molecular medicine

Special Issue Information

Dear Colleagues,

The Special Issue titled “Pharmacogenomics and Personalized Treatment” investigates the rapidly growing field of pharmacogenomics, focusing on how genetic variations affect drug efficacy and toxicity, with significant implications for the development of personalized treatment strategies. This Special Issue will emphasize key research areas, including gene-drug interactions, pharmacogenomic biomarkers, ethical, legal, and social implications, and AI and machine learning in pharmacogenomics, to facilitate the integration of genetic data into clinical practice, leading to more effective, safe, and individualized treatments for patients.

The aim of this issue is to stimulate discussion on the integration of pharmacogenomic data into routine clinical practice while addressing the challenges associated with their implementation.

We encourage submissions that explore innovative methodologies, case studies, and those examining the future of pharmacogenomics in the modeling of personalized healthcare settings.

Dr. Livija Šimičević
Dr. Lana Ganoci
Guest Editors

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. Genes 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 2600 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
  • personalized treatment
  • genetic biomarkers
  • drug metabolism
  • gene–drug interactions
  • genetic variation
  • clinical pharmacogenomics

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Published Papers (1 paper)

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Research

18 pages, 577 KB  
Article
Impact of Xenobiotic Detoxification Gene Polymorphisms on Steady-State Plasma Concentrations of Apixaban and the Development of Hemorrhagic Complications in Older Patients with Non-Valvular Atrial Fibrillation
by Andrey P. Kondrakhin, Sherzod P. Abdullaev, Ivan V. Sychev, Pavel O. Bochkov, Svetlana N. Tuchkova, Karin B. Mirzaev, Maksim L. Maksimov and Dmitry A. Sychev
Genes 2025, 16(10), 1179; https://doi.org/10.3390/genes16101179 - 10 Oct 2025
Abstract
Background: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and is associated with a fivefold increase in stroke risk. Direct oral anticoagulants (DOACs), including apixaban, are now the preferred therapy for stroke prevention in patients with non-valvular AF (NVAF). However, interindividual [...] Read more.
Background: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and is associated with a fivefold increase in stroke risk. Direct oral anticoagulants (DOACs), including apixaban, are now the preferred therapy for stroke prevention in patients with non-valvular AF (NVAF). However, interindividual variability in drug response and safety remains a major challenge, particularly in elderly patients with comorbidities and polypharmacy. Genetic polymorphisms in drug-metabolizing enzymes and transporters may contribute to variability in apixaban exposure and bleeding risk. This study aimed to evaluate the association of polymorphisms in ABCB1, CYP3A4, and CYP3A5 with steady-state plasma concentrations of apixaban (Cssmin) and hemorrhagic complications in elderly patients with NVAF. Methods: This cross-sectional study included 197 patients (mean age 83 ± 8 years; 67% women) with NVAF treated with apixaban (5 mg twice daily). Genotyping of ABCB1 (rs1045642, rs2032582, rs1128503), CYP3A4*22 (rs35599367), and CYP3A5*3 (rs776746) was performed using allele-specific real-time PCR. Cssmin of apixaban was determined by high-performance liquid chromatography coupled with tandem mass spectrometry. Associations with bleeding events were evaluated. Results: Bleeding events were recorded in 40 patients (20.3%). An association signal was observed for ABCB1 rs1045642, where carriers of the CC genotype had a higher risk of bleeding compared with alternative alleles (OR = 2.805; 95% CI: 1.326–5.935; p = 0.006). After correction for multiple testing, the association remained significant only under the log-additive model (OR = 1.93 per C allele; 95% CI: 1.17–3.20; q = 0.0275; p_adj = 0.044), while recessive and codominant effects did not withstand Bonferroni adjustment. No significant associations were observed for rs2032582, rs1128503, CYP3A4*22, or CYP3A5*3. None of the studied polymorphisms, including rs1045642, significantly affected Cssmin. Concomitant therapy, particularly with antiarrhythmic drugs and statins (rosuvastatin), also increased bleeding risk. Conclusions: The findings highlight the potential contribution of ABCB1 rs1045642 and specific drug–drug interactions to the risk of hemorrhagic complications in elderly NVAF patients receiving apixaban. Full article
(This article belongs to the Special Issue Pharmacogenomics and Personalized Treatment)
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