2024
Association patterns of antisocial personality disorder across substance use disorders
Low A, Stiltner B, Nunez Y, Adhikari K, Deak J, Pietrzak R, Kranzler H, Gelernter J, Polimanti R. Association patterns of antisocial personality disorder across substance use disorders. Translational Psychiatry 2024, 14: 346. PMID: 39198385, PMCID: PMC11358160, DOI: 10.1038/s41398-024-03054-z.Peer-Reviewed Original ResearchConceptsAntisocial personality disorderSubstance use disordersPersonality disorderUse disorderAssociation of antisocial personality disorderPresence of antisocial personality disorderPrevalence of antisocial personality disorderHazardous useDSM-5 SUD diagnosesSubstance use disorder severityDiagnostic criteriaInteraction effects with sexTobacco use disorderDSM-5Association of alcoholSUD diagnosisDisordersCocaineRacial/ethnic backgroundsIndividualsCocUDSeverityCannabisAssociation patternsAssociation
2021
Potential causal effect of posttraumatic stress disorder on alcohol use disorder and alcohol consumption in individuals of European descent: A Mendelian Randomization Study
Bountress KE, Wendt F, Bustamante D, Agrawal A, Webb B, Gillespie N, Edenberg H, Sheerin C, Johnson E, Group T, Polimanti R, Amstadter A. Potential causal effect of posttraumatic stress disorder on alcohol use disorder and alcohol consumption in individuals of European descent: A Mendelian Randomization Study. Alcohol Clinical And Experimental Research 2021, 45: 1616-1623. PMID: 34120358, PMCID: PMC8429238, DOI: 10.1111/acer.14649.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderAlcohol use disorderStress disorderTrauma-related symptomsSelf-medication modelUse disordersAlcohol consumptionLarge-scale genome-wide association study (GWAS) dataCausal effectNicotine usePotential causal effectsPTSD coLatent analysisEtiologic influencesAlcohol phenotypesHealth behaviorsPrevention effortsCorrelated riskDisordersPsychiatric Genomics ConsortiumMendelian randomization studyFindingsIndividualsClinical studiesMillion Veteran Program
2020
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Perfetto F, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clinical Epigenetics 2020, 12: 176. PMID: 33203445, PMCID: PMC7672937, DOI: 10.1186/s13148-020-00967-6.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesMethylation sitesEpigenetic differencesSignificant epigenetic differencesProtein interaction networksSignificant methylation changesAmyloidogenic mutationsDisease-causing mutationsProtein interactorsEpigenetic regulationHigh phenotypic variabilityEpigenetic profilingMethylation changesInteraction networksGene regionBiological processesMolecular mechanismsAssociation studiesMolecular pathwaysCoding mutationsPhenotypic variabilityNovel insightsGenesFiber formationMutationsPolygenic risk for autism spectrum disorder associates with anger recognition in a neurodevelopment-focused phenome-wide scan of unaffected youths from a population-based cohort
Wendt FR, Carvalho CM, Pathak GA, Gelernter J, Polimanti R. Polygenic risk for autism spectrum disorder associates with anger recognition in a neurodevelopment-focused phenome-wide scan of unaffected youths from a population-based cohort. PLOS Genetics 2020, 16: e1009036. PMID: 32941431, PMCID: PMC7523983, DOI: 10.1371/journal.pgen.1009036.Peer-Reviewed Original Research
2018
Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes
Iorio A, Ylli D, Polimanti R, Picconi F, Maggio P, Francomano D, Aversa A, Manfellotto D, Fuciarelli M, Frontoni S. Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes. Diabetes Research And Clinical Practice 2018, 138: 158-168. PMID: 29452132, DOI: 10.1016/j.diabres.2018.02.006.Peer-Reviewed Original ResearchConceptsProtein kinase regulationGlutathione S-transferase geneCellular detoxification processesKinase regulationInvolvement of GSTRisk lociFunctional variantsGene deletionPutative roleDetoxification processDeletionGenesPolymorphism analysisOxidative stressCrucial roleGene polymorphism analysisGST gene polymorphismsNovel findingsGSTM1 gene deletionLociGSTM1 deletionRoleGSTRegulationPathway
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 ResearchConceptsLoss 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
2016
Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers
Stein MB, Chen CY, Ursano RJ, Cai T, Gelernter J, Heeringa SG, Jain S, Jensen KP, Maihofer AX, Mitchell C, Nievergelt CM, Nock MK, Neale BM, Polimanti R, Ripke S, Sun X, Thomas ML, Wang Q, Ware EB, Borja S, Kessler RC, Smoller JW. Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers. JAMA Psychiatry 2016, 73: 695-704. PMID: 27167565, PMCID: PMC4936936, DOI: 10.1001/jamapsychiatry.2016.0350.Peer-Reviewed Original ResearchMeSH KeywordsAdultCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 19Chromosomes, Human, Pair 5Cohort StudiesFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMilitary PersonnelPolymorphism, Single NucleotideStress Disorders, Post-TraumaticYoung AdultConceptsPosttraumatic stress disorderTrauma-exposed controlsNew Soldier StudyRheumatoid arthritisStress disorderLifetime posttraumatic stress disorderSerious public health concernUnique participantsImmune-related disordersCumulative trauma exposureGenetic risk factorsPublic health concernLogistic regression modelsUS Army soldiersGenome-wide association studiesInflammatory disordersLifetime riskRisk factorsMAIN OUTCOMEPrimary analysisPost Deployment StudyAssociation studiesControl individualsMental disordersSignificant associationGPX1*Pro198Leu AND GPX3 rs2070593 as genetic risk markers for Italian asthmatic patients
Iorio A, Velocci M, Graziano ME, Piacentini S, Polimanti R, Manfellotto D, Fuciarelli M. GPX1*Pro198Leu AND GPX3 rs2070593 as genetic risk markers for Italian asthmatic patients. Clinical And Experimental Pharmacology And Physiology 2016, 43: 277-279. PMID: 26662676, DOI: 10.1111/1440-1681.12522.Peer-Reviewed Original Research
2015
GSTA1 gene variation associated with gestational hypertension and its involvement in pregnancy-related pathogenic conditions
Iorio A, Spinelli M, Polimanti R, Lorenzi F, Valensise H, Manfellotto D, Fuciarelli M. GSTA1 gene variation associated with gestational hypertension and its involvement in pregnancy-related pathogenic conditions. European Journal Of Obstetrics & Gynecology And Reproductive Biology 2015, 194: 34-37. PMID: 26321410, DOI: 10.1016/j.ejogrb.2015.08.006.Peer-Reviewed Original ResearchMeSH KeywordsAdultCase-Control StudiesFemaleGlutathione TransferaseHumansHypertension, Pregnancy-InducedMalePolymorphism, Single NucleotidePregnancyConceptsGestational hypertensionOdds ratioRisk of GHPregnancy-related conditionsT gene polymorphismGlutathione S-transferaseDominant genetic modelPhase II enzymesCase-control populationGH womenCardiovascular complicationsGSTA1 polymorphismsPregnant womenSignificant allelic differencesRFLP-PCR techniqueItalian patientsGenetic predispositionGene polymorphismsSignificant associationT variantDisease riskExogenous toxic compoundsGSTA1 genePhase IGSTA1Explorative 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-transferase
2014
Deletion 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 stressGSTA1*‐69C/T and GSTO2*N142D as asthma‐ and allergy‐related risk factors in Italian adult patients
Piacentini S, Polimanti R, Iorio A, Cortesi M, Papa F, Rongioletti M, Liumbruno GM, Manfellotto D, Fuciarelli M. GSTA1*‐69C/T and GSTO2*N142D as asthma‐ and allergy‐related risk factors in Italian adult patients. Clinical And Experimental Pharmacology And Physiology 2014, 41: 180-184. PMID: 24471578, DOI: 10.1111/1440-1681.12201.Peer-Reviewed Original ResearchConceptsRespiratory allergyNovel susceptibility lociImportant biochemical featuresGSTO2 gene polymorphismsRisk factorsSingle nucleotide polymorphismsGlutathione S-transferase enzymesGenomic DNAGST genesMolecular mechanismsCellular protectionItalian adult patientsSusceptibility lociRisk of asthmaPresence of inflammationAdult study populationCommon risk factorsNucleotide polymorphismsFunctional genetic polymorphismsBiochemical featuresAdult patientsAsthmatic childrenGenesLociSubjective symptoms
2013
ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease
Squitti R, Polimanti R, Siotto M, Bucossi S, Ventriglia M, Mariani S, Vernieri F, Scrascia F, Trotta L, Rossini PM. ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease. NeuroMolecular Medicine 2013, 15: 515-522. PMID: 23760784, DOI: 10.1007/s12017-013-8237-y.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-transferaseInflammationPatients
2010
Serum 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 cellsAsthma