The CYP2D6 gene is responsible for metabolising a large portion of the commonly prescribed drugs. Because of its importance, various approaches have been taken to analyse CYP2D6 and Single Nucleotide Polymorphisms (SNPs) throughout its sequence. This study introduces a novel method to analyse the effects of SNPs on encoded protein complexes by focusing on the biochemical properties of each non-synonymous substitution using the program TreeSAAP. Our results show four SNPs in CYP2D6 that exhibit radical changes in amino acid properties which may cause a lack of functionality in the CYP2D6 gene and contribute to a person's inability to metabolise specific drugs.
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http://dx.doi.org/10.1504/IJBRA.2007.015415 | DOI Listing |
Eur Rev Med Pharmacol Sci
December 2024
Department of Pharmacology & Therapeutics, College of Medicine and Health Sciences, Arabian Gulf University, Manama, Kingdom of Bahrain.
Objective: CYP2D6 plays a critical role in metabolizing tamoxifen into its active metabolite, endoxifen, which is crucial for its therapeutic effect in estrogen receptor-positive breast cancer. Single nucleotide polymorphisms (SNPs) in the CYP2D6 gene can affect enzyme activity and thus impact tamoxifen efficacy. This study aimed to use machine learning algorithms (MLAs) to identify significant predictors of Breast Cancer-Free Interval (BCFI) and to apply bioinformatics tools to investigate the structural and functional implications of CYP2D6 SNPs.
View Article and Find Full Text PDFAnn Acad Med Singap
December 2024
Institute of Mental Health, Singapore.
Introduction: Pharmacogenomic testing in psychiatry is an emerging area with potential clinical application of guiding medication choice and dosing. Interest has been fanned by commercial pharmacogenomic providers who have commonly marketed combinatorial panels that are direct-to-consumer. However, this has not been adopted widely due to a combination of barriers that include a varying evidence base, clinician and patient familiarity and acceptance, uncertainty about cost-effectiveness, and regulatory requirements.
View Article and Find Full Text PDFDiabetol Metab Syndr
December 2024
Department of Neurosurgery, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, People's Republic of China.
Objective: Obesity has been recognized as a risk factor for cerebrovascular diseases, with observational studies suggesting a heightened incidence of stroke. However, the genetic epidemiology field has yet to reach a consensus on the causal relationship and genetic overlap between ischemic stroke (IS) and obesity.
Methods: We utilized linkage disequilibrium score regression, high-definition likelihood, and local analysis of variant associations to assess the genetic correlation between body mass index (BMI) and IS.
bioRxiv
December 2024
PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, USA.
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for , , and .
View Article and Find Full Text PDFClin Pharmacol Ther
December 2024
The Mathison Centre for Mental Health Research & Education, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Pharmacogenetics-predicted drug metabolism may not match clinically observed metabolism due to a phenomenon known as phenoconversion. Phenoconversion can occur when an inhibitor or inducer of a drug-metabolizing enzyme is present. Although estimates of phenoconversion in adult populations are available, prevalence estimates in youth populations are limited.
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