Featured Publications
Sex-Specific Genetic and Transcriptomic Liability to Neuroticism
Wendt FR, Pathak GA, Singh K, Stein MB, Koenen KC, Krystal JH, Gelernter J, Davis LK, Polimanti R. Sex-Specific Genetic and Transcriptomic Liability to Neuroticism. Biological Psychiatry 2022, 93: 243-252. PMID: 36244801, PMCID: PMC10508260, DOI: 10.1016/j.biopsych.2022.07.019.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptomic profilesAssociation studiesSingle nucleotide polymorphism heritabilityGene expression variationGenome-wide significanceSex-specific geneticChromosomal variationTranscriptomic changesRisk lociExpression variationBiological processesMolecular pathwaysLociPolygenic associationSex-specific effectsGenetic correlatesPolygenic scoresUK BiobankGenetic riskNCOA6GeneticsHeritabilityPathwayFemales
2021
Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization
Pathak GA, Singh K, Miller-Fleming TW, Wendt FR, Ehsan N, Hou K, Johnson R, Lu Z, Gopalan S, Yengo L, Mohammadi P, Pasaniuc B, Polimanti R, Davis LK, Mancuso N. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. Nature Communications 2021, 12: 4569. PMID: 34315903, PMCID: PMC8316582, DOI: 10.1038/s41467-021-24824-z.Peer-Reviewed Original ResearchConceptsPutative causal genesGenome-wide association studiesUnderstanding of genesIntegrative genomic analysisTrans-ethnic studiesAssociation scanCausal genesGenomic analysisAssociation studiesDiverse ancestral backgroundsGenesSusceptibility genesBiobank JapanHost geneticsProtein levelsAncestral backgroundPathwayExpressionMRNA expressionSplicingRapid progressPhenomeGeneticsHost inflammatory responseCoagulation pathwayIntegration of evidence across human and model organism studies: A meeting report
Palmer RHC, Johnson EC, Won H, Polimanti R, Kapoor M, Chitre A, Bogue MA, Benca‐Bachman C, Parker CC, Verma A, Reynolds T, Ernst J, Bray M, Bin Kwon S, Lai D, Quach BC, Gaddis NC, Saba L, Chen H, Hawrylycz M, Zhang S, Zhou Y, Mahaffey S, Fischer C, Sanchez‐Roige S, Bandrowski A, Lu Q, Shen L, Philip V, Gelernter J, Bierut LJ, Hancock DB, Edenberg HJ, Johnson EO, Nestler EJ, Barr PB, Prins P, Smith DJ, Akbarian S, Thorgeirsson T, Walton D, Baker E, Jacobson D, Palmer AA, Miles M, Chesler EJ, Emerson J, Agrawal A, Martone M, Williams RW. Integration of evidence across human and model organism studies: A meeting report. Genes Brain & Behavior 2021, 20: e12738. PMID: 33893716, PMCID: PMC8365690, DOI: 10.1111/gbb.12738.Peer-Reviewed Original ResearchModel organism studiesModel organismsOrganism studiesDeeper mechanistic insightsPhenotypic dataGenomic researchOmics dataHuman geneticsMechanistic insightsEpigeneticsComputational biologyDiverse groupGeneticsBiological sciencesOrganismsBiologySpeciesHumansFair Data SharingData integrationCurrent toolsNew opportunitiesFundamental gap
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
2018
Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2016
Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits
Polimanti R, Yang BZ, Zhao H, Gelernter J. Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits. PLOS ONE 2016, 11: e0160654. PMID: 27537407, PMCID: PMC4990182, DOI: 10.1371/journal.pone.0160654.Peer-Reviewed Original ResearchConceptsPolygenic adaptationNatural selectionSystems geneticsProtein interaction networksWide association studyPolygenic mechanismsEuropean populationsPolygenic selectionAnthropometric traitsGene networksHuman genomeEpistatic interactionsInteraction networksEnrichment analysisGenetic signaturesSystems biologyAssociation studiesLipid transportMolecular processesAdaptation signalsLocomotory behaviorTraitsSelective mechanismGeneticsInfection resistance
2014
Human 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
Glutathione 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