Population Pharmacogenomics in Croatia: Evaluating the PGx Allele Frequency and the Impact of Treatment Efficiency.


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
31 Aug 2023
Historique:
received: 03 07 2023
revised: 24 08 2023
accepted: 28 08 2023
medline: 11 9 2023
pubmed: 9 9 2023
entrez: 9 9 2023
Statut: epublish

Résumé

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. 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. 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. 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.

Sections du résumé

BACKGROUND 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 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 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 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.

Identifiants

pubmed: 37686303
pii: ijms241713498
doi: 10.3390/ijms241713498
pmc: PMC10487565
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Vid Matišić (V)

St Catherine Specialty Hospital, 10000 Zagreb, Croatia.

Petar Brlek (P)

St Catherine Specialty Hospital, 10000 Zagreb, Croatia.
School of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.

Luka Bulić (L)

School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.

Vilim Molnar (V)

St Catherine Specialty Hospital, 10000 Zagreb, Croatia.

Marina Dasović (M)

School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.

Dragan Primorac (D)

St Catherine Specialty Hospital, 10000 Zagreb, Croatia.
School of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Medical School, University of Split, 21000 Split, Croatia.
Department of Biochemistry & Molecular Biology, The Pennsylvania State University, State College, PA 16802, USA.
The Henry C. Lee College of Criminal Justice and Forensic Sciences, University of New Haven, West Haven, CT 06516, USA.
Medical School REGIOMED, 96450 Coburg, Germany.
Medical School, University of Rijeka, 51000 Rijeka, Croatia.
Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Medical School, University of Mostar, 88000 Mostar, Bosnia and Herzegovina.
National Forensic Sciences University, Gujarat 382007, India.

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