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Clinical Utility of Pharmacogenetic Testing
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Clinical Utility of Pharmacogenetic Testing

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Pharmacogenetics".

Deadline for manuscript submissions: closed (25 October 2021) | Viewed by 6110

Special Issue Editor

Dr. Gesche Jürgens

E-Mail Website
Guest Editor
Clinical Pharmacology Unit, Zealand University Hospital, Roskilde, Sygehusvej 10, 4000 Roskilde, Denmark
Interests: pharmacogenetics/genomics; genetic polymorphisme; psychopharmacology; clinical utility of pharmacogenetic testing

Special Issue Information

Dear Colleagues,

Pharmacogenetic testing has been widely promoted to support individualized drug prescription by testing for allelic variants that affect the pharmacokinetics and pharmacodynamics of drugs. Within several therapeutic areas, actionable prescribing guidelines have been developed to facilitate the clinical implementation of these tests. However, a meaningful implementation of pharmacogenetic tests not only requires data that associates gene variants with tolerability and efficacy measures, but also shows that test results can be translated into medical decisions leading to improved clinical outcomes. This Special Issue of the Journal of Personalized Medicine focusses on the clinical utility of pharmacogenetics testing in selected therapeutic areas. It includes studies that examine the outcome of pharmacogenetic testing as a point of care approach and highlight challenges associated with its clinical implementation.

Dr. Gesche Jürgens
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. Journal of Personalized Medicine 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

  • Pharmacogenetics
  • Biomarkers
  • Pharmacokinetics
  • Pharmacodynamics
  • Individualized prescription

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Published Papers (2 papers)

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Research

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11 pages, 1411 KiB  
Article
Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism
by Erika Calvano Küchler, Caio Luiz Bitencourt Reis, Guido Marañón-Vásquez, Paulo Nelson-Filho, Mírian Aiko Nakane Matsumoto, Maria Bernadete Sasso Stuani, Maria Angélica Hueb de Menezes Oliveira, Peter Proff and Christian Kirschneck
J. Pers. Med. 2021, 11(5), 369; https://doi.org/10.3390/jpm11050369 - 2 May 2021
Cited by 13 | Viewed by 2477
Abstract
In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used [...] Read more.
In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients with a retrognathic mandible were selected as cases and those with an orthognathic mandible were selected as controls. Genomic DNA was used for genotyping analysis of SNPs in PTH (rs694, rs6256, and rs307247), VDR (rs7975232), CYP24A1 (rs464653), and CYP27B1 (rs927650). Chi-squared or Fisher’s tests were used to compare genotype and allele distribution among groups. Haplotype analysis was performed for the SNPs in PTH. The established alpha was p < 0.05. Multifactor dimensionality reduction (MDR) was used to identify SNP–SNP interactions. A total of 48 (22 males and 26 females) MR and 43 (17 males and 26 females) controls were included. The linear mandibular and the angular measurements were statistically different between MR and controls (p < 0.05). In the genotype and allele distribution analysis, the SNPs rs694, rs307247, and rs464653 were associated with MR (p < 0.05). MDR analyses predicted the best interaction model for MR was rs694–rs927650, followed by rs307247–rs464653–rs927650. Some haplotypes in the PTH gene presented statistical significance. Our results suggest that SNPs in PTH, VDR, CYP24A1, and CYP27B1 genes are associated with the presence of mandibular retrognathism. Full article
(This article belongs to the Special Issue Clinical Utility of Pharmacogenetic Testing)
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Review

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9 pages, 3046 KiB  
Review
Influence of CYP2C9 Genetic Polymorphisms on the Pharmacokinetics of Losartan and Its Active Metabolite E-3174: A Systematic Review and Meta-Analysis
by Yoon-A Park, Yu-bin Song, Jeong Yee, Ha-Young Yoon and Hye-Sun Gwak
J. Pers. Med. 2021, 11(7), 617; https://doi.org/10.3390/jpm11070617 - 29 Jun 2021
Cited by 12 | Viewed by 3007
Abstract
This study aimed to investigate the influence of CYP2C9 genetic polymorphisms on the pharmacokinetics of losartan and its active metabolite, E-3174, through a systematic review and meta-analysis. Eight studies published before March 2021 were included in this study. We used PubMed, the Cochrane [...] Read more.
This study aimed to investigate the influence of CYP2C9 genetic polymorphisms on the pharmacokinetics of losartan and its active metabolite, E-3174, through a systematic review and meta-analysis. Eight studies published before March 2021 were included in this study. We used PubMed, the Cochrane Library, EMBASE, and Web of Science, based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The data analysis was conducted through Review Manager (RevMan), version 5.3, and R software. We found that healthy volunteers with CYP2C9*2 or *3 carriers had higher area under the curve (AUC0-∞) of losartan (mean difference (MD) 0.17 μg·h/mL; 95% confidence intervals (CI): 0.04, 0.29) and lower AUC0-∞ of E-3174 (MD −0.35 μg·h/mL; 95% CI: −0.62, −0.08) than those with CYP2C9*1/*1. Subjects with CYP2C9*2 or *3 carriers showed lower maximum concentration (Cmax) of E-3174 than those with CYP2C9*1/*1 (MD −0.13 μg/mL; 95% CI: −0.17, −0.09). For half-life, subjects with CYP2C9*2 or *3 carriers had longer half-lives of losartan and E-3174 than those with CYP2C9*1/*1 (MD 0.47 h; 95% CI: 0.32, 0.61 and MD 0.68 h; 95% CI: 0.44, 0.92, respectively). This meta-analysis suggests that the pharmacokinetics of losartan and E-3174 are associated with the CYP2C9 polymorphisms Full article
(This article belongs to the Special Issue Clinical Utility of Pharmacogenetic Testing)
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