2022
Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells
Lynall ME, Soskic B, Hayhurst J, Schwartzentruber J, Levey DF, Pathak GA, Polimanti R, Gelernter J, Stein MB, Trynka G, Clatworthy MR, Bullmore E. Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells. Nature Communications 2022, 13: 6102. PMID: 36243721, PMCID: PMC9569335, DOI: 10.1038/s41467-022-33885-7.Peer-Reviewed Original ResearchConceptsMultiple psychiatric disordersPsychiatric disordersPsychiatric risk variantT cellsLymphoid cellsRisk variantsImmune cell subsetsMental health disordersMultiple organ systemsAdaptive immune systemCell subsetsImmune cellsHealth disordersMyeloid cellsImmune systemBrain tissueOrgan systemsSpecific disordersDisordersPathogenesisAbnormalitiesGenetic variantsCellsCD4VariantsA 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 ResearchConceptsSevere 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
2021
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example
Hatoum AS, Wendt FR, Galimberti M, Polimanti R, Neale B, Kranzler HR, Gelernter J, Edenberg HJ, Agrawal A. Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. Drug And Alcohol Dependence 2021, 229: 109115. PMID: 34710714, PMCID: PMC9358969, DOI: 10.1016/j.drugalcdep.2021.109115.Peer-Reviewed Original ResearchConceptsGenome-wide significant variantsCandidate gene predictionGenetic predictionRandom SNPsPolygenic traitRandom phenotypeCandidate SNPsSimulated phenotypesPsychiatric geneticsGenetic machineSignificant variantsBinary phenotypesCandidate variantsSNPsAncestryPhenotypeAllele frequenciesVariantsMachine learning modelsGenetic testsLearning model
2019
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Human Genetics 2019, 138: 1331-1340. PMID: 31659433, DOI: 10.1007/s00439-019-02078-6.Peer-Reviewed Original ResearchConceptsNon-coding variantsPhenome-wide association studyAssociation studiesNovel insightsPhenotypic traitsMolecular basisPossible modifier genesRBP4 geneModifier genesRelevant phenotypesTTR locusGenesTTR functionTransthyretin amyloidosesMultiple testing correctionGene variationRBP4 variantsGeneticsPhenotypeTransthyretin geneTTR geneConvergent associationsHereditary formsClinical phenotypeVariants
2015
Dissecting ancestry genomic background in substance dependence genome-wide association studies
Polimanti R, Yang C, Zhao H, Gelernter J. Dissecting ancestry genomic background in substance dependence genome-wide association studies. Pharmacogenomics 2015, 16: 1487-1498. PMID: 26267224, PMCID: PMC4632979, DOI: 10.2217/pgs.15.91.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAlgorithmsAllelesBlack or African AmericanGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMolecular Sequence AnnotationOpioid-Related DisordersSubstance-Related DisordersTobacco Use DisorderWhite PeopleConceptsGenome-wide association studiesGenomic backgroundFunctional allelesAssociation studiesCommon functional allelesWide association studyLocal haplotype structureGenetic lociSD traitHaplotype structureRelevant genesGenesLociInteractive partnersPopulation diversityHigh frequency differencesAllelesFrequency differenceGenomeTraitsDiversityRoleVariants
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 variantsHuman pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine
Polimanti R, Iorio A, Piacentini S, Manfellotto D, Fuciarelli M. Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine. Pharmacogenomics 2014, 15: 157-167. PMID: 24444406, DOI: 10.2217/pgs.13.231.Peer-Reviewed Original ResearchConceptsInterpopulation differencesNext-generation sequencing technologiesAntihypertensive drug responseFunctionality of genesPopulation geneticsGenetic variationSequencing technologiesDrug responseSilico analysisGeographic originPharmacogenomic variationGenetic variantsGeneticsRare variantsPharmacogenesPharmacogenetic variationVariantsGenesPersonalized medicineVariationImportant knowledgeStage
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 geneFunctional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response
Polimanti R, Fuciarelli M, Destro-Bisol G, Battaggia C. Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response. Pharmacogenomics 2013, 14: 1037-1045. PMID: 23837478, DOI: 10.2217/pgs.13.99.Peer-Reviewed Original ResearchConceptsGlutathione peroxidase gene familyPeroxidase gene familyHuman genetic variationFunctional prediction analysisHigh functional impactHuman populationGenomes Project dataGene familyFunctional diversityRedox regulationGenetic variationDrug responseFunctional differencesFunctional impactAdaptation signalsCommon variantsDiverse responsesGlutathione peroxidaseRare variantsGPX3GPX1Prediction analysisVariantsDiverse susceptibilityDiversity
2012
Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants
Squitti R, Polimanti R. Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants. Journal Of Alzheimer's Disease 2012, 29: 493-501. PMID: 22258517, DOI: 10.3233/jad-2011-111991.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesRare variantsMultiple rare variantsRare gene variantsATP7B geneGene variantsAssociation studiesHigh heritabilityGenesPotential harbourGenetic contributionCopper imbalanceSporadic Alzheimer's diseaseGenetic risk factorsHeritabilityCopper involvementPivotal roleCopper toxicosisAllele variantsRecent studiesAlzheimer's diseaseParadigmatic diseaseVariantsWilson's diseaseHereditability