2014
Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine
Polimanti R, Iorio A, Piacentini S, Manfellotto D, Fuciarelli M. Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine. Pharmacogenomics 2014, 15: 157-167. PMID: 24444406, DOI: 10.2217/pgs.13.231.Peer-Reviewed Original ResearchConceptsInterpopulation differencesNext-generation sequencing technologiesAntihypertensive drug responseFunctionality of genesPopulation geneticsGenetic variationSequencing technologiesDrug responseSilico analysisGeographic originPharmacogenomic variationGenetic variantsGeneticsRare variantsPharmacogenesPharmacogenetic variationVariantsGenesPersonalized medicineVariationImportant knowledgeStage
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
Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants
Squitti R, Polimanti R. Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants. Journal Of Alzheimer's Disease 2012, 29: 493-501. PMID: 22258517, DOI: 10.3233/jad-2011-111991.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesRare variantsMultiple rare variantsRare gene variantsATP7B geneGene variantsAssociation studiesHigh heritabilityGenesPotential harbourGenetic contributionCopper imbalanceSporadic Alzheimer's diseaseGenetic risk factorsHeritabilityCopper involvementPivotal roleCopper toxicosisAllele variantsRecent studiesAlzheimer's diseaseParadigmatic diseaseVariantsWilson's diseaseHereditability