Featured Publications
An Atlas of Genetic Correlations and Genetically Informed Associations Linking Psychiatric and Immune-Related Phenotypes
Tylee DS, Lee YK, Wendt FR, Pathak GA, Levey DF, De Angelis F, Gelernter J, Polimanti R. An Atlas of Genetic Correlations and Genetically Informed Associations Linking Psychiatric and Immune-Related Phenotypes. JAMA Psychiatry 2022, 79: 667-676. PMID: 35507366, PMCID: PMC9069342, DOI: 10.1001/jamapsychiatry.2022.0914.Peer-Reviewed Original ResearchConceptsRisk factorsImmune-related phenotypesMultivariable adjustmentUlcerative colitisCrohn's diseaseMendelian randomizationImmune-related disordersReciprocal risk factorsHealth-related behaviorsPsychiatric phenotypesFalse discovery rate correctionAllergic rhinitisGenetic association studiesGenetic associationInflammatory disordersClinical associationsMajor depressionImmune disordersMAIN OUTCOMEPsychiatric disordersSocial determinantsDisordersAssociation studiesColitisAsthma
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-transferase
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 responseGSTO1 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
Phenotype 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 effectsLinkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease
Squitti R, Polimanti R, Bucossi S, Ventriglia M, Mariani S, Manfellotto D, Vernieri F, Cassetta E, Ursini F, Rossini PM. Linkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease. Rejuvenation Research 2013, 16: 3-10. PMID: 22950421, PMCID: PMC3582274, DOI: 10.1089/rej.2012.1357.Peer-Reviewed Original ResearchConceptsCopper-binding domainSingle nucleotide polymorphismsInformative single nucleotide polymorphismsAssociation studiesLD blocksRole of ATP7BWide association studyLinkage disequilibrium analysisGenetic structureVariants/haplotypesGenetic association analysisTransmembrane domainSignificant lociGene sequencesGenetic association studiesATP7B geneGene regionAssociation analysisGenesDisequilibrium analysisLinkage disequilibriumNovel insightsCopper dyshomeostasisStrong LDMultiple testing correctionGlutathione 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
Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
Polimanti R, Carboni C, Baesso I, Piacentini S, Iorio A, De Stefano GF, Fuciarelli M. Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems. Gene 2012, 512: 102-107. PMID: 23043933, DOI: 10.1016/j.gene.2012.09.113.Peer-Reviewed Original ResearchConceptsGenetic association studiesGenetic variabilityAssociation studiesHuman populationFunctional genetic differencesDetoxification genesGlutathione S-transferaseCellular detoxificationEnzymatic functionGlutathione S-transferase enzymesGST genesBiological processesGenetic differencesDetoxification systemGenesGST enzymesS-transferaseFunctional impactLoF variantsFunction variantsGSTEnzymeHapMap databaseGenetic polymorphismsKey roleGlutathione 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 ResearchConceptsRecurrent 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 studies