2021
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank
De Lillo A, D'Antona S, Pathak GA, Wendt FR, De Angelis F, Fuciarelli M, Polimanti R. Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank. Human Molecular Genetics 2021, 30: 1457-1467. PMID: 33890984, PMCID: PMC8283210, DOI: 10.1093/hmg/ddab114.Peer-Reviewed Original ResearchConceptsGWS associationsHeterogeneous lociGenome-wide association studiesEuropean populationsAncestry-specific effectsAllele frequenciesWide significant associationsPhenome-wide analysisAncestry groupsComplex traitsLD variationPhenotypic classesAssociation studiesUK BiobankMapping variantsLociConcordant effectsCentral/South AsianAncestryWorldwide populationTraitsAsian ancestryDiscordant effectsSouth Asian ancestryEuropean descent
2015
Dissecting ancestry genomic background in substance dependence genome-wide association studies
Polimanti R, Yang C, Zhao H, Gelernter J. Dissecting ancestry genomic background in substance dependence genome-wide association studies. Pharmacogenomics 2015, 16: 1487-1498. PMID: 26267224, PMCID: PMC4632979, DOI: 10.2217/pgs.15.91.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAlgorithmsAllelesBlack or African AmericanGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMolecular Sequence AnnotationOpioid-Related DisordersSubstance-Related DisordersTobacco Use DisorderWhite PeopleConceptsGenome-wide association studiesGenomic backgroundFunctional allelesAssociation studiesCommon functional allelesWide association studyLocal haplotype structureGenetic lociSD traitHaplotype structureRelevant genesGenesLociInteractive partnersPopulation diversityHigh frequency differencesAllelesFrequency differenceGenomeTraitsDiversityRoleVariantsExplorative genetic association study of GSTT2B copy number variant in complex disease risks
Iorio A, Polimanti R, Calandro M, Graziano ME, Piacentini S, Bucossi S, Squitti R, Lazzarin N, Scano G, Limbruno GM, Manfellotto D, Fuciarelli M. Explorative genetic association study of GSTT2B copy number variant in complex disease risks. Annals Of Human Biology 2015, 43: 279-284. PMID: 26207597, DOI: 10.3109/03014460.2015.1049206.Peer-Reviewed Original ResearchConceptsOdds ratioAllergic rhinitisEssential hypertensionRecurrent miscarriageAlzheimer's diseaseCopy number variantsGlutathione S-transferaseCase-control groupPhase II enzymesStudy populationItalian patientsLarger sample sizeDisease statusDisease riskExogenous toxic compoundsPhase IPathological phenotypesDiseaseNumber variantsHealth-related phenotypesFurther investigationGenetic association studiesII enzymesComplex diseasesS-transferaseGenetic 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
2014
GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations
Karaca S, Karaca M, Cesuroglu T, Erge S, Polimanti R. GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations. American Journal Of Human Biology 2014, 27: 310-316. PMID: 25515186, DOI: 10.1002/ajhb.22671.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGenetic association studiesSequence variationAssociation studiesFunctional variantsHigh linkage disequilibriumFuture genetic association studiesWorldwide populationCommon functional variantsGenetic diversityGenetic variabilityGenome ProjectOxidative stress-related diseasesGST genesLinkage disequilibriumEastern populationsDiversity ProjectGSTP1 functionStress-related diseasesStudy of diseasesGenetic polymorphismsSequenom MassARRAY platformPolymorphismVariantsGlutathione S-transferase variantsHaplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure
Polimanti R, Piacentini S, Iorio A, De Angelis F, Kozlov A, Novelletto A, Fuciarelli M. Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure. European Journal Of Human Genetics 2014, 23: 116-123. PMID: 24667780, PMCID: PMC4266733, DOI: 10.1038/ejhg.2014.47.Peer-Reviewed Original ResearchAllelesAmino Acid SequenceChromosomes, Human, Pair 22DNA Copy Number VariationsEnvironmentGene FrequencyGenetic Association StudiesGenetics, PopulationGenome-Wide Association StudyGenotypeHaplotypesHumansIntramolecular OxidoreductasesMacrophage Migration-Inhibitory FactorsModels, GeneticMolecular Sequence DataMultigene FamilyRisk FactorsSelection, GeneticSequence AlignmentSkin Pigmentation
2013
Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease
Bucossi S, Polimanti R, Ventriglia M, Mariani S, Siotto M, Ursini F, Trotta L, Scrascia F, Callea A, Vernieri F, Squitti R. Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease. Journal Of Alzheimer's Disease 2013, 37: 453-459. PMID: 23948886, DOI: 10.3233/jad-130431.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumDisease-causing variantsCis-regulatory elementsNon-coding regionsObserved genetic associationIntronic single nucleotide polymorphismSingle nucleotide polymorphismsTranscription factorsGenetic variationATP7B variantsSilico analysisRegulatory functionsLD analysisNucleotide polymorphismsGenetic associationSites AssociatedAlzheimer's diseaseAD riskKey roleVariantsATP7B genePhenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1
Piacentini S, Polimanti R, De Angelis F, Iorio A, Fuciarelli M. Phenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1. Annals Of Human Genetics 2013, 77: 409-415. PMID: 23731058, DOI: 10.1111/ahg.12025.Peer-Reviewed Original ResearchConceptsCopy number variantsGlutathione S-transferaseAnalysis of CNVsHuman populationCopy number variant analysisNumber variant analysisProtein functionSingle nucleotide polymorphismsGenetic association studiesGSTM1 copy number variantAssociation studiesCNV frequencyGenotype methodMissense substitutionsNumber variantsPhenotype analysisGenesNucleotide polymorphismsS-transferaseMissense variantsGenetic associationVariant analysisPhenotypeGSTM1 geneFunctional effects
2012
GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients
Piacentini S, Monaci PM, Polimanti R, Manfellotto D, Fuciarelli M. GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients. Molecular Biology Reports 2012, 40: 1967-1971. PMID: 23079717, DOI: 10.1007/s11033-012-2253-0.Peer-Reviewed Original ResearchConceptsGST gene polymorphismsGene polymorphismsOxidative stressItalian patientsGST null polymorphismsBiomarkers of inflammationAnti-inflammatory responseLevel of inflammationLogistic regression analysisThyroid hormone productionPhase II enzymesCase-control populationRisk factorsHypothyroid individualsEndocrinal diseasesInflammation disordersPCR-RFLP methodHypothyroidismNull polymorphismThyroid glandGenotype distributionHormone productionGlutathione S-transferaseInflammationPatientsGenetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
Polimanti R, Carboni C, Baesso I, Piacentini S, Iorio A, De Stefano GF, Fuciarelli M. Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems. Gene 2012, 512: 102-107. PMID: 23043933, DOI: 10.1016/j.gene.2012.09.113.Peer-Reviewed Original ResearchMeSH KeywordsAllelesEthnicityGene FrequencyGenetic VariationGenetics, PopulationGenotypeGlutathione TransferaseHumansConceptsGenetic association studiesGenetic variabilityAssociation studiesHuman populationFunctional genetic differencesDetoxification genesGlutathione S-transferaseCellular detoxificationEnzymatic functionGlutathione S-transferase enzymesGST genesBiological processesGenetic differencesDetoxification systemGenesGST enzymesS-transferaseFunctional impactLoF variantsFunction variantsGSTEnzymeHapMap databaseGenetic polymorphismsKey roleGlutathione S-transferase genes and the risk of recurrent miscarriage in Italian women
Polimanti R, Piacentini S, Lazzarin N, Vaquero E, Re MA, Manfellotto D, Fuciarelli M. Glutathione S-transferase genes and the risk of recurrent miscarriage in Italian women. Fertility And Sterility 2012, 98: 396-400. PMID: 22633257, DOI: 10.1016/j.fertnstert.2012.05.003.Peer-Reviewed Original ResearchConceptsRecurrent miscarriageT alleleRisk of RMGSTA1 geneGlutathione S-transferaseGSTM1 variantsPregnancy complicationsRM riskMAIN OUTCOMEGST polymorphismsRM groupNull genotypeControl groupGSTT1 genesSignificant associationGSTP1 geneBuccal cellsItalian womenDifferent genetic modelsSingle nucleotide polymorphismsWomenGSTA1MiscarriageRiskGenetic association studiesLack of Association Between Essential Hypertension and GSTO1 Uncommon Genetic Variants in Italian Patients
Polimanti R, Piacentini S, Lazzarin N, Re MA, Manfellotto D, Fuciarelli M. Lack of Association Between Essential Hypertension and GSTO1 Uncommon Genetic Variants in Italian Patients. Genetic Testing And Molecular Biomarkers 2012, 16: 615-620. PMID: 22283150, DOI: 10.1089/gtmb.2011.0310.Peer-Reviewed Original ResearchConceptsEssential hypertensionLack of associationEH patientsUncommon variantEH riskUncommon genetic variantsGlutathione S-transferaseGenetic variantsMale patientsHealthy controlsItalian patientsPatientsCommon polymorphismsStatistical significance levelSignificant outcomesFunctional effectsHypertensionPotential roleHaplotype investigationGenetic association analysis
2011
Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients
Polimanti R, Piacentini S, Lazzarin N, Re MA, Manfellotto D, Fuciarelli M. Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients. Molecular And Cellular Biochemistry 2011, 357: 227-233. PMID: 21656129, DOI: 10.1007/s11010-011-0893-3.Peer-Reviewed Original ResearchConceptsEssential hypertensionArterial hypertensionGST null polymorphismsRisk of hypertensionBlood pressure regulationGSTT1 null individualsGST gene polymorphismsGlutathione S-transferase variantsSex-based analysisHypertensive patientsHypertensive subjectsNormotensive participantsFemale hypertensivesHealthy controlsRisk factorsPCR-RFLP methodHypertensionGST polymorphismsItalian patientsOral swabsGene polymorphismsNull polymorphismGSTO polymorphismsMale subjectsPossible association
2010
GSTA1, GSTO1 and GSTO2 gene polymorphisms in Italian asthma patients
Polimanti R, Piacentini S, Moscatelli B, Pellicciotti L, Manfellotto D, Fuciarelli M. GSTA1, GSTO1 and GSTO2 gene polymorphisms in Italian asthma patients. Clinical And Experimental Pharmacology And Physiology 2010, 37: 870-872. PMID: 20374258, DOI: 10.1111/j.1440-1681.2010.05385.x.Peer-Reviewed Original ResearchConceptsRisk of asthmaGSTO2 gene polymorphismsGene polymorphismsPolymerase chain reaction-restriction fragment length polymorphismReaction-restriction fragment length polymorphismTwo-pair primer (PCR-CTPP) methodGSTA1 genotypeAsthma patientsAsthmaEpidemiological studiesGlutathione S-transferase enzymesT genotypeControl groupPotential associationAsthmaticsGSTA1Primer methodGenetic alterationsGSTO2 genesFragment length polymorphismRiskPresent studyGSTO1PolymorphismAssociationGSTT1 and GSTM1 gene polymorphisms in European and African populations
Piacentini S, Polimanti R, Porreca F, Martínez-Labarga C, De Stefano GF, Fuciarelli M. GSTT1 and GSTM1 gene polymorphisms in European and African populations. Molecular Biology Reports 2010, 38: 1225-1230. PMID: 20563854, DOI: 10.1007/s11033-010-0221-0.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseGene frequency distributionsAfrican populationsNucleotide substitutionsHuman diseasesSNP analysisAfrica originAllele-specific PCRGene deletionPCR analysisS-transferaseSpecific PCRMultiplex PCR analysisWorldwide populationAllelic frequenciesPharmacogenomic studiesGST variantsImportant insightsPolymorphismSuperfamilyPopulation sampleGSTM1 gene polymorphismsPhenotype frequenciesGene polymorphismsGenesSerum proteins and work habits in a group of farm-workers exposed to EBDCs
Polimanti R, Piacentini S, Barone M, Porreca F, Fuciarelli M. Serum proteins and work habits in a group of farm-workers exposed to EBDCs. Annals Of Human Biology 2010, 37: 440-450. PMID: 20377494, DOI: 10.3109/03014461003702195.Peer-Reviewed Original ResearchConceptsUrinary concentrationsLifestyle habitsNon-exposed groupSerum proteinsStudy populationImmunological functionsUrine concentrationsImmune systemIndividual susceptibilityDrug metabolismSerum protein analysisETU levelsPesticide exposureEnvironmental factorsGC polymorphismsPossible linkAssociationExposureSubjectsGenetic componentHabitsPolymorphismGroupEthylenethioureaGlutathione S-transferase gene polymorphisms and air pollution as interactive risk factors for asthma in a multicentre Italian field study: A preliminary study
Piacentini S, Polimanti R, Moscatelli B, Re MA, Fuciarelli R, Manfellotto D, Fuciarelli M. Glutathione S-transferase gene polymorphisms and air pollution as interactive risk factors for asthma in a multicentre Italian field study: A preliminary study. Annals Of Human Biology 2010, 37: 427-439. PMID: 20367187, DOI: 10.3109/03014461003636419.Peer-Reviewed Original ResearchConceptsGlutathione S-transferase (GST) gene polymorphismsImpairs pulmonary functionCommon chronic diseasesCase-control studyGlutathione S-transferaseGenotyping of GSTM1Interactive risk factorsFrequency of GSTA1Asthmatic patientsPulmonary functionAsthma developmentRisk factorsChronic diseasesGSTT1 genotypeGSTP1 polymorphismsPCR-RFLP methodAsthma diseaseGene-environment interactionsControl groupGene polymorphismsGSTT1 genesPossible associationReactive oxygen speciesProtection of cellsAsthmaGlutathione S-transferase Omega class (GSTO) polymorphisms in a sample from Rome (Central Italy)
Polimanti R, Piacentini S, Porreca F, Fuciarelli M. Glutathione S-transferase Omega class (GSTO) polymorphisms in a sample from Rome (Central Italy). Annals Of Human Biology 2010, 37: 585-592. PMID: 20113212, DOI: 10.3109/03014460903508520.Peer-Reviewed Original Research
2000
Human GST Loci as Markers of Evolutionary Forces: GSTO1*E155del and GSTO1*E208K Polymorphisms May Be Under Natural Selection Induced by Environmental Arsenic
Polimanti R, Piacentini S, De Angelis F, De Stefano GF, Fuciarelli M. Human GST Loci as Markers of Evolutionary Forces: GSTO1*E155del and GSTO1*E208K Polymorphisms May Be Under Natural Selection Induced by Environmental Arsenic. Disease Markers 2000, 31: 231-239. PMID: 22045430, PMCID: PMC3826775, DOI: 10.3233/dma-2011-0821.Peer-Reviewed Original ResearchMeSH KeywordsArsenicBiotransformationBlack PeopleEcuadorEnvironmental ExposureEnvironmental PollutantsEvolution, MolecularGene FrequencyGene-Environment InteractionGenetic MarkersGenotypeGlutathione TransferaseHumansIndians, South AmericanLinkage DisequilibriumMalePolymorphism, Single NucleotideSelection, GeneticConceptsGST genesPopulation demographic historyGlutatione S-transferasesAllele frequenciesEvolutionary forcesDemographic historyNatural selectionSelective pressureNull phenotypeNeutral polymorphismsPopulation relationshipsHapMap dataS-transferaseGST SNPsGST lociEnvironmental arsenicGenesWorldwide populationPCR-RFLP methodAfrican populationsPolymorphism