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
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 variantsFunctional variability of glutathione S‐transferases in basque populations
Iorio A, Piacentini S, Polimanti R, De Angelis F, Calderon R, Fuciarelli M. Functional variability of glutathione S‐transferases in basque populations. American Journal Of Human Biology 2014, 26: 361-366. PMID: 24677736, DOI: 10.1002/ajhb.22520.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGlutathione S-transferaseS-transferaseFunctional variabilityGenetic structureGenetic association studiesCellular detoxificationGenetic variabilityGenome ProjectGST genesAssociation studiesHigh differentiationDiversity ProjectMediterranean populationsGenesCorrespondence analysisBasque populationEnzyme activityHuman populationDNA extractionPCR multiplexWorldwide populationPCR-RFLP methodPolymorphic variantsDrug response
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
2011
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 G, 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 2011, 31: 231-239. DOI: 10.1155/2011/124169.Peer-Reviewed Original ResearchGST genesPopulation demographic historyGlutatione S-transferasesAllele frequenciesEvolutionary forcesDemographic historyNatural selectionSelective pressureNull phenotypeNeutral polymorphismsPopulation relationshipsHapMap dataS-transferaseGST SNPsGST lociEnvironmental arsenicGenesWorldwide populationPCR-RFLP methodAfrican populationsPolymorphism
2010
GSTT1 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 polymorphismsGenes
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