Aim: To study the correlation between CYP2D6 genotype and its phenotype.
Methods: CYP2D6 genotyping was made by detecting CYP2D6*3, *4, *6, and *7 alleles with an allele-specific polymerase chain reaction procedure.
Results: The CYP2D6 genotypes were well correlated with its phenotypes in all 125 extensive metabolizers and in 43 poor metabolizers. Extensive metabolizers had at least one wildtype CYP2D6 gene and the genotypes were *1/*1, *1/*3, and *1/*4. Poor metabolizers were found to be homozygous mutants of CYP2D6 gene and the genotypes were *3/*4, *4/*4, *3/*6, *4/*7, *4/*6, and *6/*6.
Conclusion: Genotype could be used to screen variations of CYP2D6 expression.
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J Mol Diagn
January 2025
Clinical Research and Technological Development Division (Divisão de Pesquisa Clínica e Desenvolvimento Tecnológico), Brazilian National Cancer Institute (Instituto Nacional de Câncer), Rio de Janeiro, Brazil. Electronic address:
This article examines the frequency distribution of Tier 1 pharmacogenetic variants of the Association for Molecular Pathology Pharmacogenomics Working Group Recommendations in two large (>1.000 individuals) cohorts of the admixed Brazilian population, and in patients from the Brazilian Public Health System enrolled in pharmacogenetic trials. Three Tier 1 variants, all in DPYD, were consistently absent, which may justify their non-inclusion in genotyping panels for Brazilians; 13 variants had frequency < 1.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Pharmacogenetics is a branch of genomic medicine aiming to personalize drug prescription guidelines based on individual genetic information. This concept might lead to a reduction in adverse drug reactions, which place a heavy burden on individual patients' health and the economy of the healthcare system. The aim of this study was to present insights gained from the pharmacogenetics-based clustering of over 500 patients from the Croatian population.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Department of Pathology, Genetics and Evolution, Federal University of Triângulo Mineiro, Uberaba 38025-180, Brazil.
Background/objectives: Pharmacogenetics (PGx) aims to identify individuals more likely to suffer from adverse reactions or therapeutic failure in drug treatments. However, despite most of the evidence in this area being from European populations, some diseases have also been neglected, such as HIV infection, malaria, and tuberculosis. With this review, we aim to emphasize which pharmacogenetic tests are ready to be implemented in treating neglected diseases that have some evidence and call attention to what is missing for these three diseases.
View Article and Find Full Text PDFFront Pharmacol
January 2025
State Key Laboratory of Medicinal Chemical Biology, College of Pharmacy and Tianjin Key Laboratory of Molecular Drug Research, Nankai University, Tianjin, China.
Introduction: Deglycosylated azithromycin (Deg-AZM), a new transgelin agonist with positive therapeutic effects on slow transit constipation, has been approved for clinical trials in 2024. This work investigated the drug metabolism and transport of Deg-AZM to provide research data for further development of Deg-AZM.
Methods: A combination of UPLC-QTOF-MS was used to obtain metabolite spectra of Deg-AZM in plasma, urine, feces and bile.
Expert Opin Drug Metab Toxicol
January 2025
EuroEspes Biomedical Research Center, International Center of Neuroscience and Genomic Medicine, Bergondo, Corunna, Spain.
Introduction: Genetic load influences the therapeutic response to conventional drugs in Alzheimer's disease (AD). Pharmacogenetics (PGx) is the best option to reduce drug-drug interactions and adverse drug reactions in patients undergoing polypharmacy regimens. However, there are important limitations that make it difficult to incorporate pharmacogenetics into routine clinical practice.
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