Featured Publications
Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women
Polimanti R, Kranzler HR, Gelernter J. Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women. Neuropsychopharmacology 2016, 41: 2688-2696. PMID: 27187070, PMCID: PMC5026736, DOI: 10.1038/npp.2016.72.Peer-Reviewed Original ResearchConceptsHealth initiativesRisk allelesSocioeconomic statusPhenome-wide association studyWomen's Health InitiativeMetabolism-related mechanismsMedication useLung cancerTobacco useDietary habitsSmoking behaviorNicotine useReproductive historyReproductive healthSuggestive findingsAlcohol useAnthropometric characteristicsMental healthHealth conditionsMetabolic conditionsCausative relationshipAssociation studiesDrinking behaviorADH1BAssociation
2022
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
Verma A, Tsao NL, Thomann LO, Ho YL, Iyengar SK, Luoh SW, Carr R, Crawford DC, Efird JT, Huffman JE, Hung A, Ivey KL, Levin MG, Lynch J, Natarajan P, Pyarajan S, Bick AG, Costa L, Genovese G, Hauger R, Madduri R, Pathak GA, Polimanti R, Voight B, Vujkovic M, Zekavat SM, Zhao H, Ritchie MD, Initiative V, Chang KM, Cho K, Casas JP, Tsao PS, Gaziano JM, O’Donnell C, Damrauer SM, Liao KP. A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. PLOS Genetics 2022, 18: e1010113. PMID: 35482673, PMCID: PMC9049369, DOI: 10.1371/journal.pgen.1010113.Peer-Reviewed Original ResearchMeSH KeywordsCOVID-19Genetic Association StudiesGenome-Wide Association StudyHumansPolymorphism, Single NucleotideVeteransConceptsSevere COVID-19Million Veteran ProgramPhenome-wide association studyHost Genetics InitiativeGenetic architectureGenotype-phenotype dataAssociation studiesVeterans Affairs Million Veteran ProgramElectronic health record dataCOVID-19 severityHealth record dataCOVID-19Genetic variantsGenetics InitiativeABO locusPhenotypeVenous embolismCritical illnessDiseases codesMedical conditionsInternational ClassificationRecord dataStrong associationVeteran ProgramVariants
2019
Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium
Polimanti R, Peterson RE, Ong JS, MacGregor S, Edwards AC, Clarke TK, Frank J, Gerring Z, Gillespie NA, Lind PA, Maes HH, Martin NG, Mbarek H, Medland SE, Streit F, Agrawal A, Edenberg H, Kendler K, Lewis C, Sullivan P, Wray N, Gelernter J, Derks E. Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium. Psychological Medicine 2019, 49: 1218-1226. PMID: 30929657, PMCID: PMC6565601, DOI: 10.1017/s0033291719000667.Peer-Reviewed Original ResearchConceptsMajor depressionAlcohol dependenceAlcohol consumptionPsychiatric Genomics ConsortiumImportant public health concernMendelian randomizationPublic health concernUK BiobankClinical associationsHealth concernMR analysisReverse causationCausal roleNon-significant resultsCausal relationshipGenetic liabilityGenomics ConsortiumLinkage disequilibrium score regressionIntervention efforts
2017
Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers
Polimanti R, Jensen KP, Gelernter J. Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. Scientific Reports 2017, 7: 1034. PMID: 28432340, PMCID: PMC5430682, DOI: 10.1038/s41598-017-01098-4.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCytochrome P-450 CYP2A6FemaleGenetic Association StudiesGenetic Predisposition to DiseaseHearing LossHumansMalePhenotypePolymorphism, Single NucleotideTobacco SmokingConceptsLoss symptomsElderly subjectsAge-related hearing lossPhenome-wide association studyElderly smokersCigarette smokingNovel phenotypic associationsCerebellar hemisphereAuditory functionDiscovery cohortHearing lossReplication cohortBrain regionsSignificant associationNicotine metabolismCYP2A6 expressionCYP2A6 allelesMember 6Association studiesSmokingCohortSymptomsAssociationRegulatory roleInvolvement
2015
Explorative 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
Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 2014, 22: 73-78. PMID: 25510352, DOI: 10.3109/13506129.2014.994597.Peer-Reviewed Original ResearchMeSH KeywordsAmyloidosisGenetic Association StudiesGenetic VariationHaplotypesHumansMutationPortugalPrealbuminSwedenConceptsMost recent common ancestorNon-coding regionsRecent common ancestorAge of originPhenotypic heterogeneityGenetic diversityCommon ancestorPhenotypic variationIndependent originsGenetic evidenceMultiple founder mutationsMicrosatellite markersGenetic analysisGenetic relationshipsGenotype-phenotype correlationAmyloidogenic TTR mutationsPhenotypic variabilityMutationsHuman populationWorldwide distributionPotential roleTTR geneAutosomal transmissionFounder mutationDifferent originsHaplotype 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 PigmentationGSTO1 uncommon genetic variants are associated with recurrent miscarriage risk
Polimanti R, Graziano ME, Lazzarin N, Vaquero E, Manfellotto D, Fuciarelli M. GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk. Fertility And Sterility 2014, 101: 735-739. PMID: 24417908, DOI: 10.1016/j.fertnstert.2013.12.010.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, HabitualAdultFemaleGenetic Association StudiesGenetic VariationGlutathione TransferaseHumansMiddle AgedPolymorphism, Single NucleotidePregnancyRisk FactorsYoung AdultConceptsRecurrent miscarriageUncommon genetic variantsGSTO1 geneRecurrent miscarriage riskGenetic variantsPhysiologic pregnancyPregnancy complicationsRisk factorsMiscarriage riskMAIN OUTCOMERM riskSignificant associationSingle nucleotide polymorphismsWomenK variantGenetic association studiesGSTO1Nucleotide polymorphismsRiskAssociation studiesDetoxification metabolismComplicationsPregnancyMiscarriagePathogenesis
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 effectsGlutathione 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
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-transferaseInflammationPatientsGlutathione 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 ResearchMeSH KeywordsAbortion, HabitualAdultFemaleGene FrequencyGenetic Association StudiesGlutathione TransferaseHumansItalyMiddle AgedPregnancyRisk FactorsYoung AdultConceptsRecurrent 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 studiesAssociation of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease
Bucossi S, Polimanti R, Mariani S, Ventriglia M, Bonvicini C, Migliore S, Manfellotto D, Salustri C, Vernieri F, Rossini PM, Squitti R. Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease. Journal Of Alzheimer's Disease 2012, 29: 913-919. PMID: 22356903, DOI: 10.3233/jad-2012-111997.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAgedAged, 80 and overAlzheimer DiseaseArginineCation Transport ProteinsCopper-transporting ATPasesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansLinkage DisequilibriumLogistic ModelsLysineMaleMiddle AgedPolymorphism, Single NucleotideConceptsDisease patientsAD patientsApolipoprotein E ε4 allele frequencyAPOE ε4 variantΕ4 allele frequencyAlzheimer's disease patientsATP7B geneLocus of susceptibilityΕ4 variantHealthy controlsNeurodegenerative processesAlzheimer's diseasePatientsRisk allelesDiseaseCopper dysfunctionR alleleATP7B allelesWilson disease geneK alleleDisease genesLack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy.
Piacentini S, Polimanti R, Moscatelli B, Re MA, Manfellotto D, Fuciarelli M. Lack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy. Journal Of Investigational Allergology And Clinical Immunology 2012, 22: 252-6. PMID: 22812193.Peer-Reviewed Original ResearchConceptsDevelopment of asthmaAsthma developmentPolymerase chain reactionGSTP1 polymorphismsGlutathione S-transferaseGene polymorphismsOxidative stressGST gene polymorphismsLack of associationGSTT1 gene polymorphismsComplex multifactorial diseasePCR-restriction fragment length polymorphism analysisAsthmatic patientsAdult patientsAsthma pathogenesisInflammatory responseAsthma riskGST polymorphismsAsthmaMultiplex polymerase chain reactionHealthy individualsAntioxidant defense systemGSTT1 genesMultifactorial diseaseUnrelated healthy individuals
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