2025
APOE ε4 and Risk of Intracranial Hemorrhage in Patients With Atrial Fibrillation Taking Apixaban
Clocchiatti-Tuozzo S, Rivier C, Renedo D, Huo S, de Havenon A, Hawkes M, Gilmore E, Schwamm L, Sheth K, Gill T, Falcone G. APOE ε4 and Risk of Intracranial Hemorrhage in Patients With Atrial Fibrillation Taking Apixaban. JAMA Neurology 2025, 82 PMID: 40549373, PMCID: PMC12186128, DOI: 10.1001/jamaneurol.2025.0182.Peer-Reviewed Original ResearchRisk of intracranial hemorrhagePopulation-based studyYears of follow-up dataApo E4Cox proportional hazards modelsAPOE e4 alleleIntracranial hemorrhageRisk prediction scoreCerebral amyloid angiopathyClinical decision-makingProportional hazards modelAtrial fibrillationIncreased risk of ICHMultivariate Cox proportional hazards modelMain OutcomesIncident intracranial hemorrhageEuropean ancestryCohort studyInclusion criteriaHistory of ischemic strokeAmyloid angiopathyE4 variantHazards modelIncreased riskE4 alleleIdentification of genetic architecture shared between schizophrenia and Alzheimer’s disease
Liu H, Xie Y, Ji Y, Zhou Y, Xu J, Tang J, Liu N, Ding H, Qin W, Liu F, Yu C. Identification of genetic architecture shared between schizophrenia and Alzheimer’s disease. Translational Psychiatry 2025, 15: 150. PMID: 40240757, PMCID: PMC12003746, DOI: 10.1038/s41398-025-03348-w.Peer-Reviewed Original ResearchConceptsPolygenic overlapFalse discovery rateGenetic architectureAlzheimer's diseaseConditional/conjunctional false discovery rateConditional false discovery rateGenome-wide association studiesIndividuals of European ancestryConcordant effect directionsGenetic risk architectureMolecular genetic mechanismsHeritable brain disorderAssociation studiesGenetic mechanismsGenetic variantsEuropean ancestryGenetic associationObserved comorbiditySchizophreniaSNPsDiscovery rateCognitive declineRisk architectureBrain disordersGenetic correlationsPsychiatric genetics in the diverse landscape of Latin American populations
Bruxel E, Rovaris D, Belangero S, Chavarría-Soley G, Cuellar-Barboza A, Martínez-Magaña J, Nagamatsu S, Nievergelt C, Núñez-Ríos D, Ota V, Peterson R, Sloofman L, Adams A, Albino E, Alvarado A, Andrade-Brito D, Arguello-Pascualli P, Bandeira C, Bau C, Bulik C, Buxbaum J, Cappi C, Corral-Frias N, Corrales A, Corsi-Zuelli F, Crowley J, Cupertino R, da Silva B, De Almeida S, De la Hoz J, Forero D, Fries G, Gelernter J, González-Giraldo Y, Grevet E, Grice D, Hernández-Garayua A, Hettema J, Ibáñez A, Ionita-Laza I, Lattig M, Lima Y, Lin Y, López-León S, Loureiro C, Martínez-Cerdeño V, Martínez-Levy G, Melin K, Moreno-De-Luca D, Muniz Carvalho C, Olivares A, Oliveira V, Ormond R, Palmer A, Panzenhagen A, Passos-Bueno M, Peng Q, Pérez-Palma E, Prieto M, Roussos P, Sanchez-Roige S, Santamaría-García H, Shansis F, Sharp R, Storch E, Tavares M, Tietz G, Torres-Hernández B, Tovo-Rodrigues L, Trelles P, Trujillo-ChiVacuan E, Velásquez M, Vera-Urbina F, Voloudakis G, Wegman-Ostrosky T, Zhen-Duan J, Zhou H, Santoro M, Nicolini H, Atkinson E, Giusti-Rodríguez P, Montalvo-Ortiz J. Psychiatric genetics in the diverse landscape of Latin American populations. Nature Genetics 2025, 57: 1074-1088. PMID: 40175716, PMCID: PMC12133068, DOI: 10.1038/s41588-025-02127-z.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPsychiatric genomicsPsychiatric genome-wide association studiesLarge-scale genome-wide association studiesGenetic risk lociNon-European populationsGenetic diversityRisk lociGenetic admixtureBurden of psychiatric disordersAssociation studiesPsychiatric disordersEuropean ancestryPsychiatric geneticsGenomeHealthcare disparitiesConsortium effortLatin American populationsPromote equityEnvironmental factorsDiversityAmerican populationDiverse landscapeLociAncestryOptimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants
Yuan M, Goovaerts S, Lee M, Devine J, Richmond S, Walsh S, Shriver M, Shaffer J, Marazita M, Peeters H, Weinberg S, Claes P. Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants. Briefings In Bioinformatics 2025, 26: bbaf090. PMID: 40062617, PMCID: PMC11891655, DOI: 10.1093/bib/bbaf090.Peer-Reviewed Original ResearchConceptsRare variant association studiesGenome-wide association studiesComplex morphological traitsGenomic lociSNP heritabilityAssociation studiesRare variantsPhenotypic variationMorphological traitsAxes of phenotypic variationContext of genome-wide association studiesVariant association studiesIndividuals of European ancestryGene-based testsLinkage disequilibrium score regressionRare genetic variantsGenomic relatednessOptimal phenotypeUnrelated individualsGenetic variantsRelevant traitsEuropean ancestryScore regressionPhenotype distributionFamily dataIndependent and joint effects of genomic and exposomic loads for schizophrenia on psychotic experiences in adolescents of European ancestry
Di Vincenzo M, Prachason T, Sampogna G, Arias-Magnasco A, Lin B, Pries L, van Os J, Rutten B, Barzilay R, Fiorillo A, Guloksuz S. Independent and joint effects of genomic and exposomic loads for schizophrenia on psychotic experiences in adolescents of European ancestry. Schizophrenia 2025, 11: 26. PMID: 39984505, PMCID: PMC11845623, DOI: 10.1038/s41537-025-00569-2.Peer-Reviewed Original ResearchRisk due to interactionDistressing psychotic experiencesExcess risk due to interactionPsychotic experiencesEuropean ancestryMultilevel logistic regression modelsPolygenic risk scoresAdditive interactionStrength of associationLogistic regression modelsEarly adolescenceJoint associationsExposome scoreIncreasing strength of associationSecondary outcomesRisk scorePrimary outcomeRegression modelsStudy dataAdolescent brainSchizophreniaAdolescentsFollow-upJoint effectsOutcomesInvestigating 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, 98: 46-55. PMID: 39892688, PMCID: PMC12167164, 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 cohortVariantsUromodulin 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 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
Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPT
Moo-Choy A, Stein M, Gelernter J, Wendt F. Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPT. The Canadian Journal Of Psychiatry 2024, 70: 117-126. PMID: 39654303, PMCID: PMC11629358, DOI: 10.1177/07067437241301016.Peer-Reviewed Original ResearchGenome-wide association studiesGenome-wide significant lociSignificant lociMultivariate genome-wide association studyIndividuals of European ancestryPosttraumatic stress disorderGenomic structural equation modelingPosttraumatic stressUK Biobank (UKBAssociation studiesGenetic basisSymptom combinationsEtiological differencesSex-specific patternsEuropean ancestryAssociation dataPosttraumatic stress disorder diagnosisPosttraumatic stress disorder symptomsSex differencesLociInvestigation of sex differencesGeneticsSymptom etiologyModel of maleTraumatic eventsMapping genes for human face shape: Exploration of univariate phenotyping strategies
Yuan M, Goovaerts S, Vanneste M, Matthews H, Hoskens H, Richmond S, Klein O, Spritz R, Hallgrimsson B, Walsh S, Shriver M, Shaffer J, Weinberg S, Peeters H, Claes P. Mapping genes for human face shape: Exploration of univariate phenotyping strategies. PLOS Computational Biology 2024, 20: e1012617. PMID: 39621772, PMCID: PMC11661606, DOI: 10.1371/journal.pcbi.1012617.Peer-Reviewed Original ResearchGenome-wide association studiesMultiple genome-wide association studiesPhenotyping strategiesSNP-based heritabilityInter-landmark distancesLD score regressionFacial gestaltMap genesGenetic lociAssociation studiesCraniofacial shapeUnivariate traitsMorphological traitsEuropean ancestryScore regressionLow heritabilityPhenotyping approachFacial resemblanceFacial shapePhenotypeGenetic factorsTraitsHuman face shapeHeritabilityGenetic influencesGenome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction
Braun A, Shekhar S, Levey D, Straub P, Kraft J, Panagiotaropoulou G, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas A, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir A, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein M, Fontanillas P, Kaprio J, Gelernter J, Davis L, Paschou P, Tannemaat M, Verschuuren J, Kuhlenbäumer G, Gregersen P, Huijbers M, Stascheit F, Meisel A, Ripke S. Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. Nature Communications 2024, 15: 9839. PMID: 39537604, PMCID: PMC11560923, DOI: 10.1038/s41467-024-53595-6.Peer-Reviewed Original ResearchConceptsPerformance of polygenic risk scoresGenome-wide significant hitsGenome-wide association studiesGenome-wide meta-analysisControls of European ancestryGenetic architecturePolygenic risk scoresSignificant hitsAssociation studiesPhenotypic variationPolygenic predictionEuropean ancestryAssociated with early-onsetHuman leukocyte antigen allelesLociEarly-onsetReplication studyNeuromuscular junctionMyasthenia gravisAutoantibody-mediated diseasesAntigen allelesAllelesAncestryDisease manifestationsLate-onset MGPolygenic 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 variantsAutoimmune 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 associationT32. GENETIC ARCHITECTURE OF BIPOLAR SPECTRUM DISORDERS IN NEARLY 102,000 LATINO ANCESTRY INDIVIDUALS
Bigdeli T, Voloudakis G, Chatzinakos C, Barr P, Gorman B, Peterson R, Pyarajan S, Huang G, Gaziano M, Pato M, Fanous A, Pato C, Aslan M, Roussos P, Harvey P. T32. GENETIC ARCHITECTURE OF BIPOLAR SPECTRUM DISORDERS IN NEARLY 102,000 LATINO ANCESTRY INDIVIDUALS. European Neuropsychopharmacology 2024, 87: 173-174. DOI: 10.1016/j.euroneuro.2024.08.342.Peer-Reviewed Original ResearchGenome-wide association studiesPolygenic risk scoresEuropean ancestryMillion Veteran ProgramAdmixed AmericansGenomic Psychiatry CohortGenome-wide association study analysisGenome-wide significant signalsMulti-ancestry meta-analysisLocal ancestry inferenceStatistical fine-mappingBipolar disorderCooperative Studies ProgramGenomic structural equation modelingLatino individualsAncestry inferencePRS-CSxTrans-diagnostic approachBipolar spectrum disordersEast Asian populationsFine-mappingAssociation studiesGWAS statisticsPsychiatric genetic researchAncestry individuals94. THE GENETIC ARCHITECTURE OF MOOD AND ANXIETY DISORDER SYMPTOMS
Schultz L, Mollon J, Jacquemont S, Almasy L, Glahn D. 94. THE GENETIC ARCHITECTURE OF MOOD AND ANXIETY DISORDER SYMPTOMS. European Neuropsychopharmacology 2024, 87: 100. DOI: 10.1016/j.euroneuro.2024.08.208.Peer-Reviewed Original ResearchEuropean ancestryPrefrontal cortexPsychiatric diagnosisGene set analysisAssociated with genesInverse-variance weighted meta-analysisICD-10 psychiatric diagnosisMeta-analysisAnxiety disorder symptomsUK Biobank (UKBMulti-ancestry meta-analysisGenome-wide significant variantsGenetic architectureRisk lociMSigDB geneChromosome 8Confirmatory factor modelsGenomic risk lociEuropean ancestry individualsAnxiety disordersDisorder symptomsMood/anxiety symptomsIdentified risk lociDopamine receptorsFrontal cortexW32. A GENOME-WIDE ASSOCIATION STUDY OF BIPOLAR DISORDER FROM INDIA
Mahadevan J, Holla B, Ganesh S, Shankarappa B, Paul P, Sud R, Jain S, Purushottam M, Viswanath B. W32. A GENOME-WIDE ASSOCIATION STUDY OF BIPOLAR DISORDER FROM INDIA. European Neuropsychopharmacology 2024, 87: 118. DOI: 10.1016/j.euroneuro.2024.08.241.Peer-Reviewed Original ResearchGenome-wide association studiesGenomic risk lociRisk lociAssociation studiesGenome-wide association study of BDGenome wide association studiesAncestry principal componentsSevere mental illnessWhole-genome sequencingTissue expression analysisBiology of BdPatients of European ancestryBipolar disorderHRC panelGenome sequenceMental illnessAncestry samplesGenomic methodsEpisodes of depressionAllele dosageGenetic studiesEuropean ancestryICD-10Outpatient clinicTrained psychiatristsAssociations Between Genetic Risk, Physical Activities, and Distressing Psychotic-like Experiences
Ku B, Yuan Q, Arias-Magnasco A, Lin B, Walker E, Druss B, Ren J, van Os J, Guloksuz S. Associations Between Genetic Risk, Physical Activities, and Distressing Psychotic-like Experiences. Schizophrenia Bulletin 2024, sbae141. PMID: 39171674, DOI: 10.1093/schbul/sbae141.Peer-Reviewed Original ResearchPhysical activityPRS-SCZDistressing psychotic-like experiencesPsychotic-like experiencesDevelopment of psychosisMechanisms of physical activityGenetic liabilityParticipants of European ancestryPolygenic risk scoresIncome-to-needs ratioBody mass indexAssociated with trajectoriesAssociated with less riskAdolescent Brain Cognitive Development StudyAssociated with impaired functionFamily history of psychosisLinear mixed modelsGeneralized linear mixed modelsCognitive Development StudyHistory of psychosisEuropean ancestryGenetic riskFamily historyMass indexRisk scoreCross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking
Johnson E, Austin-Zimmerman I, Thorpe H, Levey D, Baranger D, Colbert S, Demontis D, Khokhar J, Davis L, Edenberg H, Di Forti M, Sanchez-Roige S, Gelernter J, Agrawal A. Cross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking. Neuropsychopharmacology 2024, 49: 1655-1665. PMID: 38906991, PMCID: PMC11399264, DOI: 10.1038/s41386-024-01886-3.Peer-Reviewed Original ResearchCannabis use disorderUse disorderPleiotropic lociCo-occurring substance useHeavy cannabis useInvestigation of schizophreniaSubstance use disordersGenome-wide studiesGenetic factorsMental health conditionsExecutive functionCannabis useSubstance useLead variantsSchizophreniaGenetic variantsEuropean ancestryEuropean ancestry dataRisk-takingSCZHeritable factorsCannabisDisordersTobacco smokeGenetic correlationsGene × environment effects and mediation involving adverse childhood events, mood and anxiety disorders, and substance dependence
Kranzler H, Davis C, Feinn R, Jinwala Z, Khan Y, Oikonomou A, Silva-Lopez D, Burton I, Dixon M, Milone J, Ramirez S, Shifman N, Levey D, Gelernter J, Hartwell E, Kember R. Gene × environment effects and mediation involving adverse childhood events, mood and anxiety disorders, and substance dependence. Nature Human Behaviour 2024, 8: 1616-1627. PMID: 38834750, DOI: 10.1038/s41562-024-01885-w.Peer-Reviewed Original ResearchAdverse childhood eventsSubstance dependenceMood/anxiety disordersAnxiety disordersChildhood eventsIndirect associationsGenetic riskExposure to adverse childhood eventsDevelopment of moodSubstance use disordersAssociations of adverse childhood eventsUse disorderMediation modelMood/anxietyDisorder factorsPolygenic scoresIndirect pathsDisordersEuropean ancestry individualsMoodTreatment approachesAnxietySelf-medicationEuropean ancestryLatent variablesLDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information
Dong Z, Jiang W, Li H, DeWan A, Zhao H. LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information. Briefings In Bioinformatics 2024, 25: bbae335. PMID: 38980374, PMCID: PMC11232466, DOI: 10.1093/bib/bbae335.Peer-Reviewed Original ResearchConceptsHuman complex traitsComplex traitsGene-environment interactionsGene-environmentLinkage disequilibriumPhenotypic variance componentsPhenotypic varianceProportion of phenotypic varianceSummary statisticsEuropean ancestry subjectsUK Biobank dataAssociation summary statisticsComplete linkage disequilibriumControlled type I error ratesLD informationLD matrixVariance componentsBiobank dataType I error rateEuropean ancestrySample size increaseGenetic effectsTraitsE-I pairsSimulation study
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