Pharmacogenetics and Drug Metabolism

Genetic Profiles in Pharmacogenes Indicate Personalized Drug Therapy for COVID-19

The paper identifies pharmacogenes and drug-drug interactions in COVID-19 therapies, highlighting racial differences and recommending personalized drug use based on genetic profiles.

Benchmarking analysis of deleterious SNP prediction tools on CYP2D6 enzyme

The paper evaluates 20 SNP prediction tools on CYP2D6 missense variants, finding FATHMM performs best with a Matthews correlation coefficient of 0.39.

N-acetyltransferase 2 genotypes amongst ulu Speaking South Africans and isoniazid / N-acetyl-isoniazid pharmacokinetics during ant-tuberculosis treatment

The paper investigates NAT2 polymorphisms and their effect on isoniazid pharmacokinetics in HIV-infected South Africans with tuberculosis, finding no significant genotype-phenotype correlation.

An integrative resource for investigating genetic model of drug response in cancer

The paper develops iGMDR, an integrated resource for genetic models of drug response in cancer, providing web access, code, and data for analyzing drug-genome links.

Pharmacogenetic variants associated with off-target adverse drug reactions are mostly predicted to be benign

The paper shows that pharmacogenetic variants linked to off-target adverse drug reactions are mostly predicted as benign by existing tools.

A Multiplex Pharmacogenetics Assay using the MinION Nanopore Sequencing Device

The paper develops a multiplex pharmacogenetics assay using MinION nanopore sequencing to genotype variants related to clopidogrel and warfarin, achieving >90% accuracy for most variants.

PREVALENCE OF UGT1A1 GENETIC VARIANTS IN ARGENTINEAN POPULATION, POTENTIAL IMPLICATIONS FOR PHARMACOGENOMIC TESTING

The paper examines UGT1A1 genetic variant frequencies in 100 Argentinians, finding higher prevalence of *28 allele compared to European populations, possibly due to Native American ancestry.

Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications

This study uses nanopore sequencing to genotype CYP2D6, accurately haplotype alleles, and detect duplications by analyzing allelic balance.

Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

The paper identifies 1,103 deleterious NUDT15 variants using functional assays, improving pharmacogenetics-guided thiopurine treatment by accurately predicting toxicity risk alleles.

Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects

The paper shows that genetic evidence linking drug targets to organ system phenotypes predicts clinical trial side effects in those systems.

Computational prediction and analysis of very high risk single nucleotide polymorphisms in human cytochrome P450 oxidoreductase gene

The paper identifies very high risk SNPs in the POR gene that may affect enzyme function and drug/steroid metabolism using computational tools.

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

Association of variants within the GST and other genes with anti-tubercular agents related toxicity: a systematic review and meta-analysis

This paper conducts a systematic review and meta-analysis to assess associations between genetic variants in GST and other genes and anti-tubercular drug-related toxicity, finding significant links for GSTM1 null and PXR rs3814057 polymorphisms.

Standardized biogeographic grouping system for annotating populations in pharmacogenetic research

The paper introduces a standardized biogeographic grouping system for pharmacogenetic research to improve consistency in reporting allele frequency variability across populations.

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes

The paper identifies high-impact variants in pharmacogenomic genes using whole-genome sequencing data from the 1000 Genomes Project.

Effect of cytochrome CYP2C19 metabolizing activity on antidepressant response and side effects: meta-analysis of data from genome-wide association studies

This paper conducts a meta-analysis showing that CYP2C19 poor metabolizers have better antidepressant efficacy but similar side effects compared to extensive metabolizers.

Genetic variation in human drug-related genes

The paper analyzes genetic variation in 806 drug-related genes using 60,706 human exomes, finding that most variants are rare but many patients carry functional variants affecting drug efficacy and risk varies by ancestry.

Population-specific imputation of gene expression improves prediction of pharmacogenomic traits for African Americans

The paper improves warfarin dose prediction for African Americans by integrating population-specific gene expression imputation with genetic variation data.

DGIdb 3.0: a redesign and expansion of the drug-gene interaction database

DGIdb 3.0 updates and expands the drug-gene interaction database by adding new sources, improving the codebase, and enhancing API features.

Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe

This study evaluates the clinical relevance of pharmacogenetic tests offered by 23andMe, finding variability in validity and utility across tests and populations.

Genomic analysis of human polymorphisms affecting drug-protein interactions

The paper predicts SNPs affecting drug-protein binding affinities using genomic and drug interaction data, estimating that individuals carry ~6 SNPs impacting ~5 FDA-approved drugs.