Pharmacogenetics and Drug Metabolism

This paper introduces a new fluorogenic substrate, MONA, for CYP1A2 and uses it to study how chronic alcohol exposure affects CYP1A2 activity in human liver microsomes.

The paper analyzes pharmacogenomic variants in 6,102 Russian exomes, identifying key drug metabolism and toxicity-related variants and highlighting limitations of WES for non-coding variant imputation.

This paper introduces a cost-effective multiplex genotyping method for CYP2C19 variants using FAS-PCR, achieving accurate genotype calls comparable to pyrosequencing.

This study examines CYP4 evolution in birds using 363 genomes to explore how gene variation relates to ecological traits and metabolic strategies, identifying positive selection in substrate recognition sites.

This study profiles pharmacogenomic variants in 14,490 Koreans using a population-specific array, showing high concordance and highlighting ancestry-specific pharmacogenomic diversity.

This paper presents a method to derive a complete pharmacogenomic profile from exome sequencing data, validated against multiple reference assays.

The paper examines how gut microbiota composition affects drug metabolism by analyzing 271 drugs across 89 microbial communities and develops models to predict microbiota-mediated drug metabolism.

This study examines CYP2C9*3 polymorphisms in patients with neuropsychological disorders using pharmacogenomics testing and finds a higher frequency of *1/*1 genotype compared to *1/*3.

The paper identifies common loss-of-function genes and develops a method to integrate them into cell-based models to assess population variability in chemical susceptibility.

The paper identifies gut bacteria that convert drugs into prodrugs, increasing systemic drug exposure and altering pharmacokinetics.

This study uses long-read sequencing to resolve the complex CES1 genomic locus, identifying new haplotypes and structural variants, and highlighting issues with short-read sequencing artifacts.

The paper develops an in vitro platform to monitor and modify caffeine metabolism linked to CYP1A2 expression using paraxanthine and qPCR.

VSPGx is a pharmacogenomics software that accurately identifies diplotypes and annotates them with CPIC guidelines, outperforming existing tools in synthetic and clinical benchmarks.

This study examines genotype-treatment interactions in endocrine therapy for breast cancer using UK Biobank data and finds no significant associations between genomic variants and adverse drug effects.

deCYPher is a computational framework for pharmacogene analysis using haplotype-resolved assemblies, demonstrating high accuracy in resolving complex gene structures and identifying allele variations.

This study identifies differentially expressed miRNAs regulating drug metabolizing enzymes and transporters during pregnancy and lactation, revealing their association with sex hormone levels and placental function.

VarDrug predicts variant-drug interactions using machine learning on PharmGKB data, achieving 90% F1 score for psychiatric disorder applications.

This study examines the evolution of drug-metabolizing genes across vertebrates, showing gene loss, duplication, and positive selection contribute to interspecies variability in drug metabolism.

The paper examines the association of CYP2A6 rs1801272A>T variant with nicotine metabolism and smoking tendency in Pakistani youth using ARMS PCR and PLINK, finding a non-significant trend and higher odds for carriers.

The paper assesses genetic risks of inaccurate ICU drug dosing in Qataris by analyzing whole genome sequencing data and identifies population-specific pharmacogenomics variants.

This paper develops a method to enhance CYP2D6 expression in HepaRG cells using lentiviral transduction, demonstrating improved drug metabolism and toxicity assessment capabilities.

This study evaluates the species-dependent metabolism and pharmacokinetics of a covalent nsP2 protease inhibitor, showing rapid clearance in mice but antiviral efficacy, and suggests potential for human dosing.

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

This study identifies opioid-related pharmacogenomic variants in high-risk hospitalized infants, finding higher homozygosity for ABCB1 variants and lower for COMT and OPRM1 compared to a general population database.

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

The paper assesses pharmacogenomic variation and medication exposures in a diverse cohort using whole genome sequencing and EHR data, finding high prevalence of actionable variants and previously unreported alleles.

This study investigates drug metabolism in the spleen using pig models to assess CYP and UGT enzyme activity and their role in drug disposition.

The paper identifies that NUDT15 loss in cancer cells creates a therapeutic window for thiopurines, showing increased sensitivity in cancer cell lines and reduced prostate cancer incidence with thiopurine and xanthine oxidase inhibitor co-treatment.

The paper analyzes CYP2D6 variation in a multi-ethnic Asian cohort, identifying population-specific star alleles and actionable variants with implications for pharmacogenomics.