2025
Exposome-Wide Gene-By-Environment Interaction Study of Psychotic Experiences in the UK Biobank
Lin B, Pries L, Arias-Magnasco A, Klingenberg B, Linden D, Blokland G, van der Meer D, Luykx J, Rutten B, Guloksuz S. Exposome-Wide Gene-By-Environment Interaction Study of Psychotic Experiences in the UK Biobank. Biological Psychiatry Global Open Science 2025, 5: 100460. DOI: 10.1016/j.bpsgos.2025.100460.Peer-Reviewed Original ResearchGene-by-environment interactionsPRS-SCZUK BiobankExposome-wide association studyPsychotic experiencesPolygenic risk scoresAssociated with psychotic experiencesMental distressRisk scoreAssociation studiesSleep problemsBiobankAdditive interactionPsychosis riskAgnostic analysisCorrelation testXWASGenetic vulnerabilityDistressParticipantsScoresCorrelation analysisExposureStudyRiskDevelopment and Multinational Validation of an Ensemble Deep Learning Algorithm for Detecting and Predicting Structural Heart Disease Using Noisy Single-lead Electrocardiograms
Aminorroaya A, Dhingra L, Pedroso A, Shankar S, Coppi A, Khunte A, Foppa M, Brant L, Barreto S, Ribeiro A, Krumholz H, Oikonomou E, Khera R. Development and Multinational Validation of an Ensemble Deep Learning Algorithm for Detecting and Predicting Structural Heart Disease Using Noisy Single-lead Electrocardiograms. European Heart Journal - Digital Health 2025, ztaf034. DOI: 10.1093/ehjdh/ztaf034.Peer-Reviewed Original ResearchDetectable structural heart diseaseStructural heart diseaseCommunity-based screeningLeft-sided valvular diseaseHeart diseaseELSA-BrasilYale-New Haven HospitalAI-ECG algorithmDeep learning algorithmsPopulation-based cohortSevere LVHEchocardiographic dataPredictive biomarkersHospital-based sitesNew Haven HospitalRisk stratificationValvular diseaseEnsemble deep learning algorithmUK BiobankCommunity hospitalLead I ECGLow Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit their Clinical Utility
Mollon J, Schultz L, Knowles E, Jacquemont S, Glahn D, Almasy L. Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit their Clinical Utility. Biological Psychiatry 2025 PMID: 40113122, DOI: 10.1016/j.biopsych.2025.03.006.Peer-Reviewed Original ResearchAlcohol use disorderPolygenic risk scoresSchizophrenia polygenic risk scoresPercentage of individualsHigh riskDepressive disorderLack of clinical utilityUse disorderValidity of polygenic risk scoresSchizophreniaClinical utilityMDDRisk scoreEffect sizeSNP effect sizesWhite British individualsDisordersHigh-risk individualsUK BiobankType 2 diabetesBritish individualsPRS-CSIndividualsT2DPsychiatryMendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis
Cornejo-Sanchez D, Bharadwaj T, Dong R, Wang G, Schrauwen I, DeWan A, Leal S. Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. European Journal Of Human Genetics 2025, 1-10. PMID: 40055553, DOI: 10.1038/s41431-025-01789-x.Peer-Reviewed Original ResearchRare-variantsHearing loss genesAssociated with HLNon-syndromicAssociation analysisHL geneHearing phenotypeUK BiobankMinor allele frequencyOlder adultsSensorineural disorderARHLEffect sizeWhite EuropeansAssociated with genesAge-relatedIn silico analysisAnalysis of variantsExome dataAssociationGenes i.Allele frequenciesHLGenesPresbycusisIdentification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities
Loesch D, Garg M, Matelska D, Vitsios D, Jiang X, Ritchie S, Sun B, Runz H, Whelan C, Holman R, Mentz R, Moura F, Wiviott S, Sabatine M, Udler M, Gause-Nilsson I, Petrovski S, Oscarsson J, Nag A, Paul D, Inouye M. Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities. Nature Communications 2025, 16: 2124. PMID: 40032831, PMCID: PMC11876343, DOI: 10.1038/s41467-025-56695-z.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersCardiovascular DiseasesComorbidityDiabetes Mellitus, Type 2Extracellular Matrix ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInsulin-Like Growth Factor Binding Protein 2MaleMiddle AgedMultifactorial InheritanceProteomicsRisk FactorsUnited KingdomConceptsPolygenic scoresNon-coding variantsEtiology of type 2 diabetesMolecular dataVariant effectsPathway enrichmentPlasma proteomic markersPotential therapeutic targetType 2 diabetesProteinDisease biologyPolygenic riskUK BiobankProteomic markersTherapeutic targetPathwayCirculating proteinsGenomeRisk of type 2 diabetesCardiometabolic scoreBiologyInteractive portalVariantsEnrichmentDiabetes comorbiditiesSex‐Specific Association Between Polymorphisms in Estrogen Receptor Alpha Gene (ESR1) and Depression: A Genome‐Wide Association Study of All of Us and UK Biobank Data
Hu Y, Che M, Zhang H. Sex‐Specific Association Between Polymorphisms in Estrogen Receptor Alpha Gene (ESR1) and Depression: A Genome‐Wide Association Study of All of Us and UK Biobank Data. Genetic Epidemiology 2025, 49: e70004. PMID: 40007508, PMCID: PMC11924109, DOI: 10.1002/gepi.70004.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle-nucleotide polymorphismsAssociation studiesAlpha geneEstrogen receptor alpha geneGenetic risk factorsRisk lociGenomic associationsMajor depressive disorderMDD phenotypesGenetic studiesGenetic associationRisk factors of MDDGenesESR1 geneUK BiobankESR1Participant genotypesPolymorphismSex-specificSex-specific associationsDepressive disorderRacial/ethnic disparitiesFindings lack consistencyLength of lifePolygenic Susceptibility to Diabetes and Poor Glycemic Control in Stroke Survivors
Demarais Z, Conlon C, Rivier C, Clocchiatti-Tuozzo S, Renedo D, Torres-Lopez V, Sheth K, Meeker D, Zhao H, Ohno-Machado L, Acosta J, Huo S, Falcone G. Polygenic Susceptibility to Diabetes and Poor Glycemic Control in Stroke Survivors. Neurology 2025, 104: e210276. PMID: 39889253, DOI: 10.1212/wnl.0000000000210276.Peer-Reviewed Original ResearchConceptsStroke survivorsWorse glycemic controlPoor glycemic controlStroke patientsAssociated with worse glycemic controlGlycemic controlPolygenic risk scoresClinical management of stroke patientsAssociated with poor glycemic controlManagement of stroke patientsCross-sectional designGenetic association studiesUncontrolled diabetesSusceptibility to T2DMUK BiobankType 2 diabetes mellitusAdverse vascular outcomesRisk scoreAssociation studiesHemoglobin A1cSurvivorsVascular outcomesSusceptibility to diabetesStrokeDiabetesInvestigating the contribution of coding variants in alcohol use disorder using whole-exome sequencing across ancestries
Wang L, Kranzler H, Gelernter J, Zhou H. Investigating the contribution of coding variants in alcohol use disorder using whole-exome sequencing across ancestries. Biological Psychiatry 2025 PMID: 39892688, DOI: 10.1016/j.biopsych.2025.01.020.Peer-Reviewed Original ResearchContribution of coding variantsGene-based collapsing testAlcohol use disorderAnalyzed whole-exome sequencing dataEuropean ancestryContribution of rare coding variantsRare loss-of-functionWhole-exome sequencing dataWhole-exome sequencing studiesRare coding variantsAfrican ancestryWhole-exome sequencingLoss-of-functionGenetic architectureSequence dataAllelic heterogeneityMissense variantsGenetic variantsAllele frequenciesRare variantsYale-PennStudy of alcohol use disorderUK BiobankUK Biobank cohortVariantsEvaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems
Aminorroaya A, Dhingra L, Oikonomou E, Khera R. Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems. Circulation Genomic And Precision Medicine 2025, 18: e004632. PMID: 39846171, PMCID: PMC11835527, DOI: 10.1161/circgen.124.004632.Peer-Reviewed Original ResearchConceptsYale New Haven Health SystemHealth systemVanderbilt University Medical CenterHealth system electronic health recordUniversity Medical CenterCoronary Artery Risk DevelopmentMulti-Ethnic Study of AtherosclerosisElectronic health recordsMedical CenterUS health systemHealth system patientsAssociated with significantly higher oddsMulti-Ethnic StudyUS-based cohortStudy of AtherosclerosisSignificantly higher oddsHealth recordsUK BiobankAtherosclerosis RiskRisk DevelopmentHigher oddsElevated Lp(aUniversal screeningSystem patientsStudy cohortHeart failure risk stratification using artificial intelligence applied to electrocardiogram images: a multinational study
Dhingra L, Aminorroaya A, Sangha V, Pedroso A, Asselbergs F, Brant L, Barreto S, Ribeiro A, Krumholz H, Oikonomou E, Khera R. Heart failure risk stratification using artificial intelligence applied to electrocardiogram images: a multinational study. European Heart Journal 2025, 46: 1044-1053. PMID: 39804243, DOI: 10.1093/eurheartj/ehae914.Peer-Reviewed Original ResearchYale New Haven Health SystemELSA-BrasilPCP-HFUK BiobankHF riskBrazilian Longitudinal Study of Adult HealthLongitudinal Study of Adult HealthBrazilian Longitudinal StudyRisk of new-onset HFPooled Cohort EquationsPrimary HF hospitalizationsHigher HF riskHarrell's C-statisticRisk of deathNew-onset HFCohort EquationsHealth systemComprehensive clinical evaluationAdult healthHeart failureIncident HFHF hospitalizationBaseline HFC-statisticPrevent HFUromodulin and Risk of Upper Urinary Tract Infections: A Mendelian Randomization Study
Liyanarachi K, Flatby H, Hallan S, Åsvold B, Damås J, Rogne T. Uromodulin and Risk of Upper Urinary Tract Infections: A Mendelian Randomization Study. American Journal Of Kidney Diseases 2025 PMID: 39805364, DOI: 10.1053/j.ajkd.2024.11.007.Peer-Reviewed Original ResearchUpper urinary tract infectionGenome-wide association studiesUrinary tract infectionOdds ratioMendelian randomizationTwo-sample Mendelian randomization analysisTwo-sample MR studyEuropean ancestryMichigan Genomics InitiativeInverse variance-weightedAssociation studiesMendelian randomization analysisMendelian randomization studiesAssociated with elevated oddsConfounding factorsSerum uromodulin levelsReduced riskTract infectionsUromodulin levelsSex-specific analysesAbstractText Label="PLAIN-LANGUAGE SUMMARYGenetic instrumentsHealth StudyUK BiobankUrinary uromodulinSensitivity to Environmental Stress and Adversity and Lung Cancer
Chen Y, Lan Q, Yu J, Godbole D, Byun J, Amos C, Zhang H. Sensitivity to Environmental Stress and Adversity and Lung Cancer. JAMA Network Open 2025, 8: e2457079. PMID: 39878978, PMCID: PMC11780474, DOI: 10.1001/jamanetworkopen.2024.57079.Peer-Reviewed Original ResearchConceptsLung cancer riskAssociated with lung cancer riskInternational Lung Cancer ConsortiumIndividuals of European ancestryCancer riskGenetic association studiesMendelian randomizationCross-ancestryCancer ConsortiumAssociation studiesInfluence lung cancer riskIncreased risk of lung cancerEuropean ancestryRisk of lung cancerGenome-wide meta-analysisIncreased riskGenome-wide association studiesLung cancer casesIndividuals of African ancestryIndividuals of East Asian ancestryEast Asian ancestryUK BiobankPsychosocial factorsMain OutcomesCancer cases
2024
Pain can’t be carved at the joints: defining function-based pain profiles and their relevance to chronic disease management in healthcare delivery design
Barron D, Saltoun K, Kiesow H, Fu M, Cohen-Tanugi J, Geha P, Scheinost D, Isaac Z, Silbersweig D, Bzdok D. Pain can’t be carved at the joints: defining function-based pain profiles and their relevance to chronic disease management in healthcare delivery design. BMC Medicine 2024, 22: 594. PMID: 39696368, PMCID: PMC11656997, DOI: 10.1186/s12916-024-03807-z.Peer-Reviewed Original ResearchConceptsChronic diseasesPain ProfileChronic conditionsPatient functionPain conditionsManagement of chronic diseasesChronic disease managementContinuum of careHealthcare delivery systemImprove quality of lifeQuality of lifePainful body partPain interferenceAssociated with clinical variablesUK BiobankWhole-body perspectiveHealth strategiesTreatment of individual patientsPain intensityClinically relevant differencesPatient wellbeingPain managementTreat painful conditionsICD codesMedical specialtiesThe Cerebellum Plays a Protective Role in Cognitive Aging and Disease: Insights from a Multi‐Cohort Study
Uquillas F, Sefik E, Seidlitz J, Merriman J, Zhang V, Kislin M, Cohen J, Alexander‐Bloch A, Bethlehem R, Sepulcre J, Wang S, Vannini P, Gomez J, Initiative T. The Cerebellum Plays a Protective Role in Cognitive Aging and Disease: Insights from a Multi‐Cohort Study. Alzheimer's & Dementia 2024, 20: e085743. PMCID: PMC11716736, DOI: 10.1002/alz.085743.Peer-Reviewed Original ResearchMontreal Cognitive AssessmentEstimated intracranial volumeBrain reserveCognitive declineMontreal Cognitive Assessment scoreCerebellar volumePattern of cognitive declineUK BiobankAging-related cognitive declineCerebellar tissue volumesPosterior cerebellar cortexAmyloid burdenAPOE genotypeAlzheimer's diseaseCerebellar associationsMild cognitive impairmentExecutive functionCognitive agingAmyloid-beta burdenVentral attentionPosterior cerebellumCrus IAge-related changesDiagnostic groupsProcessing speedA multimodal Neuroimaging-Based risk score for mild cognitive impairment
Zendehrouh E, Sendi M, Abrol A, Batta I, Hassanzadeh R, Calhoun V. A multimodal Neuroimaging-Based risk score for mild cognitive impairment. NeuroImage Clinical 2024, 45: 103719. PMID: 39637673, PMCID: PMC11664180, DOI: 10.1016/j.nicl.2024.103719.Peer-Reviewed Original ResearchMild cognitive impairment riskMild cognitive impairmentMild cognitive impairment groupRisk of mild cognitive impairmentRisk scoreUK Biobank participantsFunctional network connectivityCognitive impairmentPrecursor to ADSignificant cognitive declineBiobank participantsUK BiobankMild cognitive impairment individualsGenetic risk factorsAlzheimer's diseaseFunctional MRIHigh-risk groupStructural MRIAD riskRisk factorsCognitive declineFeatures of CNGray matterDifferentiate CNParticipantsIntegrating genome-wide information and wearable device data to explore the link of anxiety and antidepressants with pulse rate variability
Friligkou E, Koller D, Pathak G, Miller E, Lampert R, Stein M, Polimanti R. Integrating genome-wide information and wearable device data to explore the link of anxiety and antidepressants with pulse rate variability. Molecular Psychiatry 2024, 1-7. PMID: 39558002, DOI: 10.1038/s41380-024-02836-7.Peer-Reviewed Original ResearchPolygenic risk scoresMendelian randomizationReuptake inhibitorsOne-sample Mendelian randomizationElectronic health record dataOne-sample MRHealth record dataMillion Veteran ProgramPotential causal effectSerotonin reuptake inhibitorsNorepinephrine reuptake inhibitorsGenome-wide association studiesEffects of anxietyImpact of anxietyWearable device dataUK BiobankVeteran ProgramAntidepressant prescriptionsAnxiety disordersAntidepressant medicationAntidepressant useAntidepressant exposureTricyclic antidepressantsPRS-CSRecord dataPolygenic Risk of Epilepsy and Poststroke Epilepsy
Clocchiatti-Tuozzo S, Rivier C, Misra S, Zelano J, Mazumder R, Sansing L, de Havenon A, Hirsch L, Liebeskind D, Gilmore E, Sheth K, Kim J, Worrall B, Falcone G, Mishra N. Polygenic Risk of Epilepsy and Poststroke Epilepsy. Stroke 2024, 55: 2835-2843. PMID: 39502073, PMCID: PMC11653790, DOI: 10.1161/strokeaha.124.047459.Peer-Reviewed Original ResearchParticipants of European ancestryRisk of poststroke epilepsyPolygenic riskPoststroke epilepsyEuropean ancestryGenome-wide association study meta-analysisPRS decileCase-control genetic association studyGenetic risk lociLowest decilePolygenic risk scoresGenetic association studiesMultivariate logistic regression modelStudy meta-analysisMultivariate logistic regression resultsHistory of strokeLogistic regression modelsRisk lociAssociation studiesStroke survivorsUK BiobankGenetic informationGenetic ancestryLogistic regression resultsGenetic variantsGeneralizable and replicable brain-based predictions of cognitive functioning across common psychiatric illness
Chopra S, Dhamala E, Lawhead C, Ricard J, Orchard E, An L, Chen P, Wulan N, Kumar P, Rubenstein A, Moses J, Chen L, Levi P, Holmes A, Aquino K, Fornito A, Harpaz-Rotem I, Germine L, Baker J, Yeo B, Holmes A. Generalizable and replicable brain-based predictions of cognitive functioning across common psychiatric illness. Science Advances 2024, 10: eadn1862. PMID: 39504381, PMCID: PMC11540040, DOI: 10.1126/sciadv.adn1862.Peer-Reviewed Original ResearchConceptsPrediction of cognitionCognitive functionPrediction of cognitive functionFunctional neuroimaging dataTransdiagnostic sampleComputational psychiatryPsychiatric illnessNeuroimaging dataCognitive impairmentCognitionPopulation-level datasetsPsychiatryAssociated with poor outcomesUK BiobankImpairmentBrainIllnessSymptomsPrediction studiesParticipantsPoor outcomeClinical studiesSamplesAutoimmune Diseases and Risk of Non‐Hodgkin Lymphoma: A Mendelian Randomisation Study
Shi X, Wallach J, Ma X, Rogne T. Autoimmune Diseases and Risk of Non‐Hodgkin Lymphoma: A Mendelian Randomisation Study. Cancer Medicine 2024, 13: e70327. PMID: 39506244, PMCID: PMC11540836, DOI: 10.1002/cam4.70327.Peer-Reviewed Original ResearchConceptsRisk of non-Hodgkin lymphomaNon-Hodgkin's lymphomaAutoimmune diseasesMendelian randomisationType 1 diabetesAssociated with risk of non-Hodgkin lymphomaWeak instrument biasNon-Hodgkin lymphoma subtypesTwo-sample MRNon-Hodgkin lymphoma riskRisk factorsSusceptibility to type 1 diabetesMendelian randomisation studiesCohorts of European ancestryAssociated with riskNo significant associationPotential pleiotropyPotential risk factorsUK BiobankFinnGen studyNon-HodgkinHaematological malignanciesRandomised studyEuropean ancestrySignificant associationF96. ALCOHOL USE AND DEMENTIA IN DIVERSE POPULATIONS
Topiwala A, Levey D, Zhou H, Deak J, Adhikari K, Ebmeier K, Bell S, Burgess S, Nichols T, Gaziano M, Stein M, Gelernter J. F96. ALCOHOL USE AND DEMENTIA IN DIVERSE POPULATIONS. European Neuropsychopharmacology 2024, 87: 256-257. DOI: 10.1016/j.euroneuro.2024.08.507.Peer-Reviewed Original ResearchMillion Veteran ProgramDementia riskMendelian randomizationDementia casesAlcohol usePrevalence of alcohol use disordersImpact of alcohol useRandom-effects meta-analysisAlcohol use disorder prevalenceProspective cohort studyStandard deviation increaseObservational associationsUK BiobankVeteran ProgramLevels of drinkingPopulation prevalenceAlcohol consumptionAlcohol use disorderCohort studyDisorder prevalenceDementiaDependent drinkersDose-response relationshipGenetic associationLight drinkers
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