2024
Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes
Maihofer A, Ratanatharathorn A, Hemmings S, Costenbader K, Michopoulos V, Polimanti R, Rothbaum A, Seedat S, Mikita E, Smith A, Salem R, Shaffer R, Wu T, Sebat J, Ressler K, Stein M, Koenen K, Wolf E, Sumner J, Nievergelt C. Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes. Translational Psychiatry 2024, 14: 172. PMID: 38561342, PMCID: PMC10984931, DOI: 10.1038/s41398-024-02869-0.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderMendelian randomizationTwo-sample Mendelian randomizationLinkage disequilibrium score regressionGenome-wide significant single nucleotide polymorphismsCorrelated horizontal pleiotropyGenetic architectures of phenotypesMultivariable MR analysisSignificant single nucleotide polymorphismsAssociation of posttraumatic stress disorderCausal effectsSingle nucleotide polymorphismsGenetic correlationsMR-PRESSOHorizontal pleiotropyStress disorderMR analysisScore regressionGenetic architectureC-reactive proteinInverse varianceMR estimatesNucleotide polymorphismsPathway variablesEpidemiological evidence
2021
Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder
Johnson EC, Kapoor M, Hatoum AS, Zhou H, Polimanti R, Wendt FR, Walters RK, Lai D, Kember RL, Hartz S, Meyers JL, Peterson RE, Ripke S, Bigdeli TB, Fanous AH, Pato CN, Pato MT, Goate AM, Kranzler HR, O'Donovan MC, Walters JTR, Gelernter J, Edenberg HJ, Agrawal A. Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder. Psychological Medicine 2021, 53: 1196-1204. PMID: 34231451, PMCID: PMC8738774, DOI: 10.1017/s003329172100266x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant single nucleotide polymorphismsLarge-scale genome-wide association studiesSignificant single nucleotide polymorphismsIndependent genome-wide significant single nucleotide polymorphismsSignificant genetic correlationsGenomic regionsSingle nucleotide polymorphismsGene expressionGenetic covariancePleiotropic associationsAssociation studiesGenetic correlationsGenetic variantsNucleotide polymorphismsGenetic overlapDisorder-specific effectsAlcohol use disorderGenetic influencesGenesUse disordersPleiotropic effects of telomere length loci with brain morphology and brain tissue expression
Pathak GA, Wendt FR, Levey DF, Mecca AP, van Dyck CH, Gelernter J, Polimanti R. Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression. Human Molecular Genetics 2021, 30: 1360-1370. PMID: 33831179, PMCID: PMC8255129, DOI: 10.1093/hmg/ddab102.Peer-Reviewed Original ResearchConceptsMethylation expressionGenetic variantsMapping gene functionTelomere lengthChromatin associationChromatin profilesGene functionGenetic colocalizationGene mappingGenomic relationshipsNeuropsychiatric traitsPleiotropic rolesDrug-gene interactionsCertain lociBrain tissue expressionGenesLociPleiotropic effectsBrain morphology measuresNucleotide polymorphismsAncestry populationsTissue expressionPhenotypic associationsPleiotropyAncestry groups
2014
GSTA1*‐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 symptomsGSTO1 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 ResearchConceptsRecurrent 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 effects
2011
Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children
Piacentini S, Verrotti A, Polimanti R, Giannini C, Saccucci P, Manfellotto D, Fuciarelli M. Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children. Clinical Chemistry And Laboratory Medicine 2011, 50: 311-315. PMID: 22040239, DOI: 10.1515/cclm.2011.774.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseAsthma developmentGSTO2 gene polymorphismsSingle nucleotide polymorphismsGenetic variabilityAssociation studiesCellular protectionAntioxidant defense systemGSTO2 genesGSTT1 genotype distributionFunctional polymorphismsNucleotide polymorphismsPathogenesis of asthmaS-transferaseCase-control studyIndependent case-control studiesSusceptible genesDefense systemGSTT1 null genotypeEffect of GSTM1GenesBronchial inflammationGSTA1GSTO2Airway disorders