2023
Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders
Hatoum A, Colbert S, Johnson E, Huggett S, Deak J, Pathak G, Jennings M, Paul S, Karcher N, Hansen I, Baranger D, Edwards A, Grotzinger A, Tucker-Drob E, Kranzler H, Davis L, Sanchez-Roige S, Polimanti R, Gelernter J, Edenberg H, Bogdan R, Agrawal A. Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nature Mental Health 2023, 1: 210-223. PMID: 37250466, PMCID: PMC10217792, DOI: 10.1038/s44220-023-00034-y.Peer-Reviewed Original ResearchGenome-wide associationGenetic risk lociIndependent single nucleotide polymorphismsProblematic tobacco useSingle nucleotide polymorphismsRisk lociHigh polygenicityLociReceptor geneAddiction risk factorsPolygenic risk scoresEuropean descentPolygenicityGenesSummary statisticsSubstance use disordersSomatic conditionsAncestryRegulationConfersUse disordersPolymorphismGenetic liabilityDopamine regulationPDE4B
2022
Exploring the genetic overlap between twelve psychiatric disorders
Romero C, Werme J, Jansen P, Gelernter J, Stein M, Levey D, Polimanti R, de Leeuw C, Posthuma D, Nagel M, van der Sluis S. Exploring the genetic overlap between twelve psychiatric disorders. Nature Genetics 2022, 54: 1795-1802. PMID: 36471075, DOI: 10.1038/s41588-022-01245-2.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPleiotropic single nucleotide polymorphismsPositive genetic correlationStringent P-value thresholdGenetic architectureGenomic regionsGenetic covarianceBiological processesBiological pathwaysMolecular characterizationObserved phenotypicGenetic correlationsGenetic overlapBiological characterizationBiological mechanismsP-value thresholdOnly annotationGenesPleiotropicPairwise comparisonsPhenotypicPathwayAnnotationPolymorphismCharacterization
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 variantsDeletion polymorphism of GSTT1 gene as protective marker for allergic rhinitis
Iorio A, Polimanti R, Piacentini S, Liumbruno GM, Manfellotto D, Fuciarelli M. Deletion polymorphism of GSTT1 gene as protective marker for allergic rhinitis. The Clinical Respiratory Journal 2014, 9: 481-486. PMID: 24902621, DOI: 10.1111/crj.12170.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseObserved genetic associationAllergic rhinitisGene familyGenomic DNASusceptibility lociXenobiotic compoundsGenesPhase II enzymesS-transferaseCase-control populationII enzymesOxidative stress-related mechanismsComplex diseasesGenetic associationNull polymorphismHealthy non-allergic subjectsHuman populationStress-related mechanismsDeletion polymorphismNon-allergic subjectsCommon respiratory diseasesBiomarkers of inflammationPolymorphismOxidative stress
2013
Glutathione S-transferase polymorphisms, asthma susceptibility and confounding variables: a meta-analysis
Piacentini S, Polimanti R, Simonelli I, Donno S, Pasqualetti P, Manfellotto D, Fuciarelli M. Glutathione S-transferase polymorphisms, asthma susceptibility and confounding variables: a meta-analysis. Molecular Biology Reports 2013, 40: 3299-3313. PMID: 23307299, DOI: 10.1007/s11033-012-2405-2.Peer-Reviewed Original Research
2011
GSTO1*E155del polymorphism associated with increased risk for late-onset Alzheimer's disease: Association hypothesis for an uncommon genetic variant
Piacentini S, Polimanti R, Squitti R, Mariani S, Migliore S, Vernieri F, Rossini PM, Manfellotto D, Fuciarelli M. GSTO1*E155del polymorphism associated with increased risk for late-onset Alzheimer's disease: Association hypothesis for an uncommon genetic variant. Neuroscience Letters 2011, 506: 203-207. PMID: 22100662, DOI: 10.1016/j.neulet.2011.11.005.Peer-Reviewed Original ResearchConceptsUncommon genetic variantsGSTO1-1Genetic variantsClass genesGlutathione S-transferaseGenetic variationMultifunctional enzymeCellular detoxificationAlzheimer's diseaseGSTO2 genesGenetic linkageAllele-specific PCRS-transferaseChromosome 10qAD riskGene polymorphismsInterleukin-1β activationSpecific PCRPathophysiology of ADGenesLate-onset Alzheimer's diseasePolymorphismAD risk factorsOxidative stressPCR-RFLPAssociation between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer′s Disease
Bucossi S, Mariani S, Ventriglia M, Polimanti R, Gennarelli M, Bonvicini C, Pasqualetti P, Scrascia F, Migliore S, Vernieri F, Rossini PM, Squitti R. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer′s Disease. International Journal Of Alzheimer's Disease 2011, 2011: 973692. PMID: 21760992, PMCID: PMC3132548, DOI: 10.4061/2011/973692.Peer-Reviewed Original ResearchHuman 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
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 componentHabitsPolymorphismGroupEthylenethiourea
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