2025
Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development.
Ghouse J, Gellert-Kristensen H, O’Rourke C, Seidelin A, Thorleifsson G, Sveinbjörnsson G, Tragante V, Konkwo C, Brancale J, Vilarinho S, Eyrich T, Ahlberg G, Bundgaard J, Rand S, Lundegaard P, Sørensen E, Mikkelsen C, Træholt J, Erikstrup C, Dinh K, Bruun M, Jensen B, Bay J, Brunak S, Banasik K, Ullum H, Consortium E, Laisk T, Mägi R, Nadauld L, Knowlton K, Knight S, Gluud L, Vistisen K, Björnsson E, Ulfarsson M, Sulem P, Holm H, Pedersen O, Ostrowski S, Gudbjartsson D, Rafnar T, Stefansson K, Lassen U, Pommergaard H, Hillingsø J, Andersen J, Bundgaard H, Stender S. Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development. JHEP Reports 2025, 101485. DOI: 10.1016/j.jhepr.2025.101485.Peer-Reviewed Original ResearchGenome-wide association studiesAssociated with higher riskGenome-wide statistical significanceIncident hepatocellular carcinomaMendelian randomization analysisGenome-wide meta-analysisIdentified variantsPer-allele effectsMeta-analysisMendelian randomizationGenetic risk lociPrevalent obesityRandomization analysisAlcohol intakeMeta-analysesRisk lociAssociation studiesRisk factorsGenetic variantsGenetic underpinningsRisk of hepatocellular carcinomaLociGenetic effectsCohortConcordant effectsExamining socioeconomic differences in sepsis risk and mediation by modifiable factors: a Mendelian randomization study
Stensrud V, Rogne T, Flatby H, Mohus R, Gustad L, Nilsen T. Examining socioeconomic differences in sepsis risk and mediation by modifiable factors: a Mendelian randomization study. BMC Infectious Diseases 2025, 25: 739. PMID: 40410669, PMCID: PMC12103053, DOI: 10.1186/s12879-025-11130-y.Peer-Reviewed Original ResearchConceptsSummary-level dataSocioeconomic differencesGenome-wide association studiesGenetic instrumentsEducational attainmentMendelian randomizationMR analysisStandard deviation increaseBias due to population stratificationOdds ratioPreventive factorsMR-Egger regressionExamined socioeconomic differencesMultivariable MR analysisEffect of smoking initiationAssociation studiesMendelian randomization studiesEffects of educational attainmentDeviation increaseYears of educationBody mass indexBackgroundEducational attainmentDynastic effectsMedian OREgger regressionThe inflammatory and genetic mechanisms underlying the cumulative effect of co-occurring pain conditions on depression
Jiang R, Geha P, Rosenblatt M, Wang Y, Fu Z, Foster M, Dai W, Calhoun V, Sui J, Spann M, Scheinost D. The inflammatory and genetic mechanisms underlying the cumulative effect of co-occurring pain conditions on depression. Science Advances 2025, 11: eadt1083. PMID: 40173244, PMCID: PMC11964001, DOI: 10.1126/sciadv.adt1083.Peer-Reviewed Original ResearchConceptsDepression riskChronic pain conditionsPain conditionsPrevalence of comorbid depressionPain scoresUK Biobank participantsPain-free individualsComposite pain scoresHigh-risk individualsPain screeningMendelian randomizationBiobank participantsPain sitesDepression incidenceComorbid depressionIncreased riskBody sitesDepressionC-reactive proteinPainCausal inferenceFollow-upScoresRiskInflammatory markersAssociation of social relationships and genetic risk with frailty
Song W, Zhong W, Yan H, Li Z, Gao J, Wang X, Chen P, You F, Li C, Chen H, Xie J, Lv Y, Shi X, Mao C. Association of social relationships and genetic risk with frailty. American Journal Of Geriatric Psychiatry 2025 PMID: 40155233, DOI: 10.1016/j.jagp.2025.02.015.Peer-Reviewed Original ResearchPolygenic risk scoresFrailty riskGenetic riskMendelian randomizationOlder adultsChinese Longitudinal Healthy Longevity SurveyTwo-sample Mendelian randomizationAssociations of social relationshipsSocial relationshipsEffects of social relationshipsSocial activitiesCox proportional hazards modelsIncreased frailty riskLongevity SurveyHigh frailty riskProportional hazards modelUnfavorable relationshipSocial supportTwo-time pointsRisk scoreFrailtyHazards modelGenetic susceptibilityAdditive interactionSingle-nucleotideBrain-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 mechanismsUromodulin 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, 85: 570-576.e1. 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 uromodulinA genetic exploration of the relationship between posttraumatic stress disorder and cardiovascular diseases
Lukas E, Veeneman R, Smit D, Ahluwalia T, Vermeulen J, Pathak G, Polimanti R, Verweij K, Treur J. A genetic exploration of the relationship between posttraumatic stress disorder and cardiovascular diseases. Translational Psychiatry 2025, 15: 1. PMID: 39755697, PMCID: PMC11700205, DOI: 10.1038/s41398-024-03197-z.Peer-Reviewed Original ResearchPosttraumatic stress disorderMendelian randomizationCardiovascular diseaseCausal pathwaysData of genome-wide association studiesGenetic liabilityMultivariable Mendelian randomizationWaist-to-hip ratioPotential mediatorsWaist-to-hipRisk of cardiovascular diseaseGenome-wide association studiesPotential causal pathwaysPrevent cardiovascular diseaseStress disorderIncreased risk of cardiovascular diseaseGenomic structural equationSignificant genetic correlationsPsychosocial factorsEffects of posttraumatic stress disorderAssociation studiesIncreased riskPosttraumatic stress disorder patientsCausal effectsTraumatic eventsSensitivity 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 casesBrain morphology mediating the effects of common genetic risk variants on Alzheimer's disease.
Breddels E, Snihirova Y, Pishva E, Gülöksüz S, Blokland G, Luykx J, Andreassen O, Linden D, van der Meer D. Brain morphology mediating the effects of common genetic risk variants on Alzheimer's disease. Journal Of Alzheimer's Disease Reports 2025, 9: 25424823251328300. PMID: 40144144, PMCID: PMC11938454, DOI: 10.1177/25424823251328300.Peer-Reviewed Original ResearchLate-onset Alzheimer's diseaseGenetic risk variantsMendelian randomizationRisk of late-onset Alzheimer's diseaseInferior lateral ventricleUK BiobankAlzheimer's Disease Neuroimaging InitiativeCausal pathwaysAlzheimer's diseaseRisk variantsClinical dataLateral ventricleNeurobiological pathwaysBiobankAlzheimerGenetic dataDiseaseAssociated with alterationsGenetic variationBrain morphologyEntorhinal cortexRiskMeasures of brain morphologyAssociations of Genetically Predicted NPR3 and NPR2 Perturbation and Preeclampsia Risk: A Two‐Sample Mendelian Randomization Analysis
de La Harpe R, Rogne T, Nyberg M, Cronjé H, Burgess S, Karhunen V, Gill D. Associations of Genetically Predicted NPR3 and NPR2 Perturbation and Preeclampsia Risk: A Two‐Sample Mendelian Randomization Analysis. International Journal Of Hypertension 2025, 2025: 9972031. PMID: 40406480, PMCID: PMC12097871, DOI: 10.1155/ijhy/9972031.Peer-Reviewed Original ResearchGenome-wide association studiesMendelian randomizationTwo-sample Mendelian randomization analysisRisk of preeclampsiaTwo-sample MR analysisGenetic association estimatesGenetic instrumental variablesPreeclampsia riskMendelian randomization analysisFemale participantsC-type natriuretic peptideIndividual-level dataEffects of C-type natriuretic peptideGenetic instrumentsMR analysisUK BiobankRandomization analysisAssociation estimatesMR paradigmAssociation studiesGenetic variantsPregnancy complicationsProtective effects of C-type natriuretic peptideTwo-sampleInstrumental variables
2024
Genal: a Python toolkit for genetic risk scoring and Mendelian randomization
Rivier C, Clocchiatti-Tuozzo S, Huo S, Torres-Lopez V, Renedo D, Sheth K, Falcone G, Acosta J. Genal: a Python toolkit for genetic risk scoring and Mendelian randomization. Bioinformatics Advances 2024, 5: vbae207. PMID: 39776894, PMCID: PMC11706532, DOI: 10.1093/bioadv/vbae207.Peer-Reviewed Original ResearchPolygenic risk scoresMendelian randomizationMR analysisGenome-wide association studiesPRS computationRisk scoreGenetic association dataGenetic risk scoreGenetic epidemiological studiesMR-PRESSOAssociation studiesGenetic epidemiologyMultiple R packagesMR methodsAssociation dataR packageEpidemiological studiesComputational experimentsGenalePython toolkitPython packageScoresPLINKComputation timeEpidemiologyGenetic analysis of psychosis Biotypes: shared Ancestry-adjusted polygenic risk and unique genomic associations
Xia C, Alliey-Rodriguez N, Tamminga C, Keshavan M, Pearlson G, Keedy S, Clementz B, McDowell J, Parker D, Lencer R, Hill S, Bishop J, Ivleva E, Wen C, Dai R, Chen C, Liu C, Gershon E. Genetic analysis of psychosis Biotypes: shared Ancestry-adjusted polygenic risk and unique genomic associations. Molecular Psychiatry 2024, 30: 2673-2685. PMID: 39709506, PMCID: PMC12092190, DOI: 10.1038/s41380-024-02876-z.Peer-Reviewed Original ResearchTranscriptome-wide association studyPolygenic risk scoresNeural cell adhesion molecule 1Genomic associationsGenetically regulated expressionPolygenic risk score analysisMendelian randomizationGenotype principal componentsNeurite out-growthGenomic analysisAssociation studiesSchizophrenia polygenic risk scoresAssociation analysisNCAM signalingBiological pathwaysGenesIntermediate phenotypesBiotypesPolygenic riskCell adhesion molecule 1Bipolar-Schizophrenia NetworkDiagnosis of schizophreniaOut-growthRisk scoreBiological investigationsA Mendelian randomization study of alcohol use and cardiometabolic disease risk in a multi‐ancestry population from the Million Veteran Program
Kember R, Rentsch C, Lynch J, Vujkovic M, Voight B, Justice A, Program M, Assimes T, Kranzler H. A Mendelian randomization study of alcohol use and cardiometabolic disease risk in a multi‐ancestry population from the Million Veteran Program. Alcohol Clinical And Experimental Research 2024, 48: 2256-2268. PMID: 39580711, PMCID: PMC11629435, DOI: 10.1111/acer.15445.Peer-Reviewed Original ResearchCoronary heart diseaseMR analysisMillion Veteran ProgramGenetic scoreAlcohol consumptionBody mass indexMendelian randomizationCardiometabolic diseasesVeteran ProgramAfrican AmericansAlcohol Use Disorders Identification Test-Consumption (AUDIT-C) scoresEuropean AmericansHispanic AmericansAssociation of alcohol consumptionMultivariable MR analysisAssociated with CHD riskMendelian randomization studiesRisk of cardiometabolic diseasesAssociated with alcohol consumptionCardiometabolic disease riskIncidence of coronary heart diseaseObservational studyNested case-control studyReduced risk of cardiometabolic diseasesMulti-ancestry populationIntegrating 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, 30: 2309-2315. PMID: 39558002, PMCID: PMC12107450, 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 dataProteomic and phosphoproteomic identified structural and functional changes in the aorta associate with age-dependent hypertension in male Sprague-Dawley rats
Amraei R, Lampl N, Nist K, Zhang Y, Wainford R. Proteomic and phosphoproteomic identified structural and functional changes in the aorta associate with age-dependent hypertension in male Sprague-Dawley rats. Physiological Genomics 2024, 57: 16-27. PMID: 39548828, DOI: 10.1152/physiolgenomics.00052.2024.Peer-Reviewed Original ResearchIncreased risk of HFRisk of HFMendelian randomizationMR analysisCardiovascular diseaseTwo-sample bidirectional Mendelian randomizationBidirectional MR analysisBidirectional Mendelian randomizationInstrumental variablesIncreased riskUnited Kingdom BiobankCoronary artery diseaseCausal effectsHorizontal pleiotropyPleiotropy testConfounding factorsHeart failureObservational studyGenetic variantsAtrial fibrillationPotential associationManagement of patientsEuropean populationsClinical management of patientsReverse causal effectGenome-Wide Meta-Analysis Identifies Multiple Germline Genetic Variants Associated with Increased Risk of Follicular Lymphoma
Joseph V, Clay-Gilmour A, Park H, Breeze C, Sucheston-Campbell L, Arias J, Waller R, Güler M, Nieters A, Ekstroem Smedby K, Davídsson Ó, Wang S, Lan Q, Hjalgrim H, Slager S, McKay J, Cerhan J, Berndt S, Rothman N. Genome-Wide Meta-Analysis Identifies Multiple Germline Genetic Variants Associated with Increased Risk of Follicular Lymphoma. Blood 2024, 144: 4339-4339. DOI: 10.1182/blood-2024-211262.Peer-Reviewed Original ResearchGenome-wide association studiesTranscriptome wide association studyBlood cell traitsLeukocyte telomere lengthMendelian randomizationGermline genetic variantsB cell developmentClass II genesFollicular lymphomaAssociation studiesHLA class IRisk variantsGenetic variantsFL casesGenome-wide significant lociGenome-wide significant variantsWhole blood gene expression dataHLA regionII genesRegulation of B cell developmentBlood gene expression dataControls of European ancestryGene Ontology termsGene set analysisGenetically high-risk populationsF96. 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 drinkersW74. MULTI-OMICS ANALYSIS OF INTERMEDIATE PHENOTYPES REVEALS NEW RISK GENES AND PATHWAYS IN PSYCHOTIC DISORDERS
Xia C, Alliey-Rodriguez N, Tamminga C, Keshavan M, Pearlson G, Keedy S, Parker D, Bishop J, Chen C, Liu C, Gershon E. W74. MULTI-OMICS ANALYSIS OF INTERMEDIATE PHENOTYPES REVEALS NEW RISK GENES AND PATHWAYS IN PSYCHOTIC DISORDERS. European Neuropsychopharmacology 2024, 87: 141-142. DOI: 10.1016/j.euroneuro.2024.08.283.Peer-Reviewed Original ResearchTranscriptome-wide association studyGenome-wide complex trait analysisPotential causal genesQuantitative Trait LociRisk genesEvent-related potentialsPolygenic risk scoresIntermediate phenotypesGene OntologyCase-control statusPsychotic disordersComplex trait analysisGenotype principal componentsIdentified risk genesGenetic correlationsMulti-omics analysisMendelian randomizationPRS-CSxPsychosis risk genesCausal genesAssociation studiesGenomic characteristicsDetect significant associationsGene associationsBipolar-Schizophrenia NetworkGenetically Informed Study Highlights Income-Independent Effect of Schizophrenia Liability on Mental and Physical Health
Kouakou M, Cabrera-Mendoza B, Pathak G, Cannon T, Polimanti R. Genetically Informed Study Highlights Income-Independent Effect of Schizophrenia Liability on Mental and Physical Health. Schizophrenia Bulletin 2024, 51: 85-94. PMID: 38848523, PMCID: PMC11661948, DOI: 10.1093/schbul/sbae093.Peer-Reviewed Original ResearchMultivariable Mendelian randomizationMR analysisMedical endpointsMultivariable MR analysisNegative health outcomesSubstance usePsychiatric Genomics ConsortiumHigh-risk individualsFinnGen participantsMendelian randomizationMultiple testing correctionSocioeconomic inequalitiesHealth outcomesBonferroni multiple testing correctionUK BiobankSocioeconomic differencesPhysical healthMental healthAnalysis of schizophreniaGenetic liabilityAdjustment disorderHousehold incomeLife expectancyTesting correctionPersonality disorderEffects of gut microbiome on type 1 diabetes susceptibility and complications: A large‐scale bidirectional Mendelian randomization and external validation study
Guo K, Ye J, Li J, Huang J, Zhou Z. Effects of gut microbiome on type 1 diabetes susceptibility and complications: A large‐scale bidirectional Mendelian randomization and external validation study. Diabetes Obesity And Metabolism 2024, 26: 3306-3317. PMID: 38751358, DOI: 10.1111/dom.15658.Peer-Reviewed Original ResearchHigh-density lipoproteinOphthalmic complicationsT1D complicationsComplications of type 1 diabetesType 1 diabetes susceptibilityData of patientsRisk of T1DSmall high-density lipoproteinGut microbiomeComplications of T1DType 1 diabetesEffect of gut microbiomeExternal validation studyEffects of gut microbiotaCirculating metabolitesMultivariable MR analysisHealthy controlsComplicationsMR analysisMendelian randomizationRelative abundanceEubacterium coprostanoligenes groupMetabolic diseasesT1DPatients
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply