2025
Molecular hallmarks of hydrocephalus
Hale A, Zhou B, Rajan A, Duy P, Goolam M, Alper S, Lehtinen M, Lancaster M, Fame R, Kahle K. Molecular hallmarks of hydrocephalus. Science Translational Medicine 2025, 17: eadq1810. PMID: 40465691, DOI: 10.1126/scitranslmed.adq1810.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidBrain-CSF interfacePluripotent stem cell-derived cerebral organoidsStem cell dysfunctionAssociated with dilatationDisrupts synaptogenesisNeural stem cell dysfunctionMolecular classificationPharmacological treatmentCell dysfunctionImpaired neurogenesisBiomechanical instabilityHC subtypesGenome-widePleiotropic mechanismsCSF dynamicsNeural circuitryHydrocephalusEnvironmental insultsCerebral organoidsNeurodevelopmental comorbiditiesBrain-wide pleiotropy investigation of alcohol drinking and tobacco smoking behaviors
Deiana G, He J, Cabrera-Mendoza B, Ciccocioppo R, Napolioni V, Polimanti R. Brain-wide pleiotropy investigation of alcohol drinking and tobacco smoking behaviors. Translational Psychiatry 2025, 15: 61. PMID: 39979292, PMCID: PMC11842717, DOI: 10.1038/s41398-025-03288-5.Peer-Reviewed Original ResearchConceptsImaging-derived phenotypesBrain imaging-derived phenotypesAlcohol drinkingBrain structuresProcessing of social cuesCorrelates of smoking behaviorRelationship of brain structureSequencing Consortium of AlcoholGlobal genetic correlationsSmoking behaviorSuperior longitudinal fasciculusAssociated with smoking initiationTobacco smokeTobacco smoking behaviorLatent causal variable approachesNicotine useBrain regionsPremotor cortexSocial cuesWhite matter hyperintensitiesLongitudinal fasciculusChemosensory processingCortical thicknessMendelian randomizationPleiotropic mechanisms
2024
Unraveling COVID-19 relationship with anxiety disorders and symptoms using genome-wide data
Asgel Z, Kouakou M, Koller D, Pathak G, Cabrera-Mendoza B, Polimanti R. Unraveling COVID-19 relationship with anxiety disorders and symptoms using genome-wide data. Journal Of Affective Disorders 2024, 352: 333-341. PMID: 38382819, PMCID: PMC10939738, DOI: 10.1016/j.jad.2024.02.061.Peer-Reviewed Original ResearchAnxiety disordersAnxiety symptomsAnxiety outcomesPeriods of anxietyCorrelates of anxiety disordersGenome-wide dataLocal genetic correlationLatent causal variable analysesBrain morphologyAnxietyGenetic correlationsCOVID-19 positive statusGenetic causality proportionDisordersPleiotropic mechanismsMillion Veteran ProgramVeteran ProgramSymptomsCOVID-19 hospitalizationCOVID-19 Host Genetics InitiativeComorbidityMultiple lociHost Genetics InitiativeCOVID-19 outcomesPositive statusFeasibility and metabolic outcomes of a well-formulated ketogenic diet as an adjuvant therapeutic intervention for women with stage IV metastatic breast cancer: The Keto-CARE trial
Buga A, Harper D, Sapper T, Hyde P, Fell B, Dickerson R, Stoner J, Kackley M, Crabtree C, Decker D, Robinson B, Krystal G, Binzel K, Lustberg M, Volek J. Feasibility and metabolic outcomes of a well-formulated ketogenic diet as an adjuvant therapeutic intervention for women with stage IV metastatic breast cancer: The Keto-CARE trial. PLOS ONE 2024, 19: e0296523. PMID: 38166036, PMCID: PMC10760925, DOI: 10.1371/journal.pone.0296523.Peer-Reviewed Original ResearchConceptsMetastatic breast cancerStage IV metastatic breast cancerKetogenic dietInsulin resistanceNutritional ketosisPlasma insulinBreast cancerBody compositionAdjuvant therapeutic interventionsMetabolic outcomesCancer patientsPlasma glucoseMetabolic effectsBody fatShort-term studiesBody weightPleiotropic mechanismsTherapeutic interventionsConsistent bloodPhase IMonthsWomenCancerAd libitumChemotherapy
2023
Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders
Koller D, Pathak G, Wendt F, Tylee D, Levey D, Overstreet C, Gelernter J, Taylor H, Polimanti R. Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders. JAMA Network Open 2023, 6: e2251214. PMID: 36652249, PMCID: PMC9856929, DOI: 10.1001/jamanetworkopen.2022.51214.Peer-Reviewed Original ResearchConceptsPsychiatric comorbidityMAIN OUTCOMEMental healthIrritable bowel syndromeBody mass indexAssociation of endometriosisOdds of depressionSevere physical symptomsPain-related phenotypesWomen's mental healthMultivariate regression analysisOdds of endometriosisBowel syndromeGenetic associationMass indexGynecologic pathologyMillion Veteran ProgramEndometriosisPsychiatric disordersWomen's healthFemale controlsPleiotropic mechanismsPhysical symptomsComorbiditiesFinnGen study
2022
Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records
Polimanti R, Wendt FR, Pathak GA, Tylee DS, Tcheandjieu C, Hilliard AT, Levey DF, Adhikari K, Gaziano JM, O’Donnell C, Assimes TL, Stein MB, Gelernter J. Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records. Molecular Psychiatry 2022, 27: 3961-3969. PMID: 35986173, PMCID: PMC10986859, DOI: 10.1038/s41380-022-01735-z.Peer-Reviewed Original ResearchConceptsCoronary artery diseasePosttraumatic stress disorderElectronic health recordsMillion Veteran ProgramArtery diseaseTotal scoreCAD diagnosisPlatelet amyloid precursor proteinHealth recordsPosttraumatic stress severityAmyloid precursor proteinEarly CAD diagnosisUK BiobankBidirectional relationshipTwo-sample Mendelian randomization (MR) analysisMendelian randomization analysisCAD riskHigh morbidityPTSD symptom severityCARDIoGRAMplusC4D consortiumPleiotropic mechanismsSymptom severityLongitudinal changesDiscordant effectsStress disorder
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