2021
ACE2 Netlas: In silico Functional Characterization and Drug-Gene Interactions of ACE2 Gene Network to Understand Its Potential Involvement in COVID-19 Susceptibility
Pathak GA, Wendt FR, Goswami A, Koller D, De Angelis F, Initiative C, Polimanti R. ACE2 Netlas: In silico Functional Characterization and Drug-Gene Interactions of ACE2 Gene Network to Understand Its Potential Involvement in COVID-19 Susceptibility. Frontiers In Genetics 2021, 12: 698033. PMID: 34512723, PMCID: PMC8429844, DOI: 10.3389/fgene.2021.698033.Peer-Reviewed Original ResearchGenome-wide association studiesGenetic variationFunctional characterizationCOVID-19 susceptibilityHuman genetic variationSilico functional characterizationDrug-gene interaction databaseTranscriptomic regulationGene networksGenetic variant associationsMetabolic domainsMulti-level characterizationPhenome-wide associationAssociation studiesDrug-gene interactionsVariant associationsInteraction databasesGenesKey adhesion moleculeGenetic variantsPhenotype categoriesPotential involvementMiRNAsAdhesion moleculesPotential mechanisms
2015
Genetic diversity of disease-associated loci in Turkish population
Karaca S, Cesuroglu T, Karaca M, Erge S, Polimanti R. Genetic diversity of disease-associated loci in Turkish population. Journal Of Human Genetics 2015, 60: 193-198. PMID: 25716910, DOI: 10.1038/jhg.2015.8.Peer-Reviewed Original ResearchConceptsHealth-related traitsGenetic diversityNon-European ancestryHuman genetic variationDisease-associated lociGenetic structureComplex traitsGenetic variationTraitsEuropean individualsGenesEast populationDiversityGenetic featuresAncestryPolygenic scoresMiddle East populationLociPopulationPeculiar genetic featuresGenetic predispositionHuman groupsLarge numberTurkish populationLast finding
2013
Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response
Polimanti R, Fuciarelli M, Destro-Bisol G, Battaggia C. Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response. Pharmacogenomics 2013, 14: 1037-1045. PMID: 23837478, DOI: 10.2217/pgs.13.99.Peer-Reviewed Original ResearchConceptsGlutathione peroxidase gene familyPeroxidase gene familyHuman genetic variationFunctional prediction analysisHigh functional impactHuman populationGenomes Project dataGene familyFunctional diversityRedox regulationGenetic variationDrug responseFunctional differencesFunctional impactAdaptation signalsCommon variantsDiverse responsesGlutathione peroxidaseRare variantsGPX3GPX1Prediction analysisVariantsDiverse susceptibilityDiversity
2012
Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations
Polimanti R, Piacentini S, Manfellotto D, Fuciarelli M. Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics 2012, 13: 1951-1960. PMID: 23215887, DOI: 10.2217/pgs.12.163.Peer-Reviewed Original ResearchConceptsGenetic diversityHuman genetic diversityHuman genetic variationHuman Genome Diversity ProjectFunctional differencesHuman populationRole of CYP450Functional diversityGenetic variationRelated clinical phenotypesHigh differentiationCYP450 genesHapMap dataDiversity ProjectHuman adaptationF-statisticsDiversityGenesWorldwide populationDrug responseComputational analysisClinical phenotypeAdaptationCYP450Interethnic differences