2025
Identification 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 ResearchMeSH KeywordsAlzheimer DiseaseFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideSchizophreniaConceptsPolygenic 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 ResearchMeSH KeywordsCaribbean RegionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenomicsHumansLatin AmericaMental DisordersConceptsGenome-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 ResearchMeSH KeywordsAlgorithmsGenetic VariationGenome-Wide Association StudyGenotypeHumansPhenotypePolymorphism, Single NucleotidePrincipal Component AnalysisConceptsRare 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 dataImplications of gene × environment interactions in post-traumatic stress disorder risk and treatment
Seah C, Sidamon-Eristoff A, Huckins L, Brennand K. Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment. Journal Of Clinical Investigation 2025, 135: e185102. PMID: 40026250, PMCID: PMC11870735, DOI: 10.1172/jci185102.Peer-Reviewed Original ResearchMeSH KeywordsFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleRisk FactorsStress Disorders, Post-TraumaticConceptsPost-traumatic stress disorderGene x environment interactionsGenetic component of riskLimitations of genetic studiesTreating post-traumatic stress disorderExposure to traumatic stressPost-traumatic stress disorder riskInteraction of traumaGenetic screeningGenetic studiesGenetic componentEnvironment interactionMolecular mechanismsStress disorderPTSD riskTraumatic exposureTraumatic stressTraumatic experiencesDisorder riskGenetic factorsNovel therapeuticsBiological mechanismsGWASGeneral populationGenesIdentification 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 comorbiditiesEpigenetic signatures of intergenerational exposure to violence in three generations of Syrian refugees
Mulligan C, Quinn E, Hamadmad D, Dutton C, Nevell L, Binder A, Panter-Brick C, Dajani R. Epigenetic signatures of intergenerational exposure to violence in three generations of Syrian refugees. Scientific Reports 2025, 15: 5945. PMID: 40016245, PMCID: PMC11868390, DOI: 10.1038/s41598-025-89818-z.Peer-Reviewed Original ResearchConceptsSyrian refugeesExposure to violenceWar-related violenceExposed to violenceExposure to warAdult health outcomesViolenceIntergenerational exposureSurvey dataRefugeesHealth outcomesEpigenome-wide association studiesTrauma effectsInfluence infantsImpact future generationsEpigenetic age accelerationFuture generationsMothersAssociated with germlineMaternal traumaFamilyAssociation studiesPregnant mothersWarDNA methylationSex‐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 lifeEmpowering genome-wide association studies via a visualizable test based on the regional association score
Jiang Y, Zhang H. Empowering genome-wide association studies via a visualizable test based on the regional association score. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419721122. PMID: 39999171, PMCID: PMC11892588, DOI: 10.1073/pnas.2419721122.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsComputer SimulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansModels, GeneticPolymorphism, Single NucleotideIdentification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
Ugalde-Morales E, Wilf R, Pluta J, Ploner A, Fan M, Damra M, Aben K, Anson-Cartwright L, Chen C, Cortessis V, Daneshmand S, Ferlin A, Gamulin M, Gietema J, Gonzalez-Niera A, Grotmol T, Hamilton R, Harland M, Haugen T, Hauser R, Hildebrandt M, Karlsson R, Kiemeney L, Kim J, Lessel D, Lothe R, Loveday C, Chanock S, McGlynn K, Meijer C, Nead K, Nsengimana J, Popovic M, Rafnar T, Richiardi L, Rocca M, Schwartz S, Skotheim R, Stefansson K, Stewart D, Turnbull C, Vaughn D, Winge S, Zheng T, Monteiro A, Almstrup K, Kanetsky P, Nathanson K, Wiklund F, Consortium T. Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study. American Journal Of Human Genetics 2025, 112: 630-643. PMID: 39999848, PMCID: PMC11947167, DOI: 10.1016/j.ajhg.2025.01.022.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyGenome-wide association studiesAssociation studiesTesticular germ cell tumorsTranscriptome-wide association study signalsGenome-wide association study lociTesticular germ cell tumour susceptibilityTesticular germ cell tumor tissuesFine-mapping analysisGene-disease linksGonadal cell typesEvidence of colocalizationProtein levels accumulationExpression levelsTesticular germ cell tumour riskPrioritized genesFalse discovery rateNeighboring genesGene-diseaseRegulatory featuresGene associationsColocalization analysisProtein patternsGenesNormal testisBrain-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 mechanismsA comprehensive spatio-cellular map of the human hypothalamus
Tadross J, Steuernagel L, Dowsett G, Kentistou K, Lundh S, Porniece M, Klemm P, Rainbow K, Hvid H, Kania K, Polex-Wolf J, Knudsen L, Pyke C, Perry J, Lam B, Brüning J, Yeo G. A comprehensive spatio-cellular map of the human hypothalamus. Nature 2025, 639: 708-716. PMID: 39910307, PMCID: PMC11922758, DOI: 10.1038/s41586-024-08504-8.Peer-Reviewed Original ResearchConceptsGenome-wide association study genesRare deleterious variantsHypothalamic cell typesCell typesSingle-nucleus sequencingBody mass indexTranscription mapDeleterious variantsNeuronal cell typesG protein-coupled receptorsStudy genesBiological functions1Spatial transcriptomicsTranscriptomic identityCellular componentsExpression levelsPro-opiomelanocortin neuronsHuman hypothalamusAssociated with body mass indexPopulation levelMetabolic disordersHypothalamic cellsExpressionNeuronal clustersTranscriptomeGenetic Overlap of Thoracic Aortic Aneurysms and Intracranial Aneurysms
Changez M, Nasir A, Sonsino A, Jeoffrey S, Kalyanasundaram A, Zafar M, Ziganshin B, Elefteriades J. Genetic Overlap of Thoracic Aortic Aneurysms and Intracranial Aneurysms. Genes 2025, 16: 154. PMID: 40004483, PMCID: PMC11855647, DOI: 10.3390/genes16020154.Peer-Reviewed Original ResearchMeSH KeywordsAortic Aneurysm, ThoracicGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracranial AneurysmConceptsGenome-wide association studiesThoracic aortic aneurysmGenetic overlapCell cycle pathwayIntracranial aneurysmsAortic aneurysmAssociation studiesEtiology of thoracic aortic aneurysmExtracellular matrix componentsGenetic interplayGenetic pathwaysCycle pathwayCausative genesExtracellular matrix remodelingThoracic aortic aneurysm patientsGenetic etiologyConnective tissue biologyRetrospective clinical studyMolecular mechanismsGenesIntracranial aneurysm patientsPhysiological pathwaysTissue biologyPathwayGenetic factorsRisk factors affecting polygenic score performance across diverse cohorts
Hui D, Dudek S, Kiryluk K, Walunas T, Kullo I, Wei W, Tiwari H, Peterson J, Chung W, Davis B, Khan A, Kottyan L, Limdi N, Feng Q, Puckelwartz M, Weng C, Smith J, Karlson E, Center R, BioBank P, Jarvik G, Ritchie M. Risk factors affecting polygenic score performance across diverse cohorts. ELife 2025, 12: rp88149. PMID: 39851248, PMCID: PMC11771958, DOI: 10.7554/elife.88149.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack PeopleBody Mass IndexCohort StudiesFemaleGenome-Wide Association StudyHumansMaleMiddle AgedMultifactorial InheritanceRisk FactorsWhite PeopleConceptsBody mass indexPolygenic scoresAssociated with body mass indexPolygenic score performancePhysical activityStandard deviation changeAlcohol consumptionMass indexDiverse cohortInteraction effectsRisk factorsBlood lipidsDeviation changeQuintileScore performanceCohortCovariatesBinary covariateAncestryModel R<sup>2</sup>Continuous covariatesDifferencesTrans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies
Consortium M, Adams M, Streit F, Meng X, Awasthi S, Adey B, Choi K, Chundru V, Coleman J, Ferwerda B, Foo J, Gerring Z, Giannakopoulou O, Gupta P, Hall A, Harder A, Howard D, Hübel C, Kwong A, Levey D, Mitchell B, Ni G, Ota V, Pain O, Pathak G, Schulte E, Shen X, Thorp J, Walker A, Yao S, Zeng J, Zvrskovec J, Aarsland D, Actkins K, Adli M, Agerbo E, Aichholzer M, Aiello A, Air T, Als T, Andersson E, Andlauer T, Arolt V, Ask H, Bäckman J, Badola S, Ballard C, Banasik K, Bass N, Beekman A, Belangero S, Bigdeli T, Binder E, Bjerkeset O, Bjornsdottir G, Børte S, Bränn E, Braun A, Brodersen T, Brückl T, Brunak S, Bruun M, Burmeister M, Buspavanich P, Bybjerg-Grauholm J, Byrne E, Cai J, Campbell A, Campbell M, Campos A, Castelao E, Cervilla J, Chaumette B, Chen C, Chen H, Chen Z, Cichon S, Colodro-Conde L, Corbett A, Corfield E, Couvy-Duchesne B, Craddock N, Dannlowski U, Davies G, de Geus E, Deary I, Degenhardt F, Dehghan A, DePaulo J, Deuschle M, Didriksen M, Dinh K, Direk N, Djurovic S, Docherty A, Domschke K, Dowsett J, Drange O, Dunn E, Eaton W, Einarsson G, Eley T, Elsheikh S, Engelmann J, Benros M, Erikstrup C, Escott-Price V, Fabbri C, Fang Y, Finer S, Frank J, Free R, Gallo L, Gao H, Gill M, Gilles M, Goes F, Gordon S, Grove J, Gudbjartsson D, Gutierrez B, Hahn T, Hall L, Hansen T, Haraldsson M, Hartman C, Havdahl A, Hayward C, Heilmann-Heimbach S, Herms S, Hickie I, Hjalgrim H, Hjerling-Leffler J, Hoffmann P, Homuth G, Horn C, Hottenga J, Hougaard D, Hovatta I, Huang Q, Hucks D, Huider F, Hunt K, Ialongo N, Ising M, Isometsä E, Jansen R, Jiang Y, Jones I, Jones L, Jonsson L, Kanai M, Karlsson R, Kasper S, Kendler K, Kessler R, Kloiber S, Knowles J, Koen N, Kraft J, Kranzler H, Krebs K, Kallak T, Kutalik Z, Lahtela E, Lake M, Larsen M, Lenze E, Lewins M, Lewis G, Li L, Lin B, Lin K, Lind P, Liu Y, MacIntyre D, MacKinnon D, Maher B, Maier W, Marshe V, Martinez-Levy G, Matsuda K, Mbarek H, McGuffin P, Medland S, Meinert S, Mikkelsen C, Mikkelsen S, Milaneschi Y, Millwood I, Molina E, Mondimore F, Mortensen P, Mulsant B, Naamanka J, Najman J, Nauck M, Nenadić I, Nielsen K, Nolt I, Nordentoft M, Nöthen M, Nyegaard M, O'Donovan M, Oddsson A, Oliveira A, Olsen C, Oskarsson H, Ostrowski S, Owen M, Packer R, Palviainen T, Pan P, Pato C, Pato M, Pedersen N, Pedersen O, Peyrot W, Potash J, Preisig M, Preuss M, Quiroz J, Renteria M, Reynolds C, Rice J, Sakaue S, Santoro M, Schoevers R, Schork A, Schulze T, Send T, Shi J, Sigurdsson E, Singh K, Sinnamon G, Sirignano L, Smeland O, Smith D, Sofer T, Sørensen E, Srinivasan S, Stefansson H, Stefansson K, Straub P, Su M, Tadic A, Teismann H, Teumer A, Thapar A, Thomson P, Thørner L, Topaloudi A, Tsai S, Tzoulaki I, Uhl G, Uitterlinden A, Ullum H, Umbricht D, Ursano R, Van der Auwera S, van Hemert A, Veluchamy A, Viktorin A, Völzke H, Walters G, Wang X, Wani A, Weissman M, Wellmann J, Whiteman D, Wildman D, Willemsen G, Williams A, Winsvold B, Witt S, Xiong Y, Zillich L, Zwart J, Team T, Group C, Team E, Team G, Psychiatry H, Project T, Program V, Andreassen O, Baune B, Berger K, Boomsma D, Børglum A, Breen G, Cai N, Coon H, Copeland W, Creese B, Cruz-Fuentes C, Czamara D, Davis L, Derks E, Domenici E, Elliott P, Forstner A, Gawlik M, Gelernter J, Grabe H, Hamilton S, Hveem K, John C, Kaprio J, Kircher T, Krebs M, Kuo P, Landén M, Lehto K, Levinson D, Li Q, Lieb K, Loos R, Lu Y, Lucae S, Luykx J, Maes H, Magnusson P, Martin H, Martin N, McQuillin A, Middeldorp C, Milani L, Mors O, Müller D, Müller-Myhsok B, Okada Y, Oldehinkel A, Paciga S, Palmer C, Paschou P, Penninx B, Perlis R, Peterson R, Pistis G, Polimanti R, Porteous D, Posthuma D, Rabinowitz J, Reichborn-Kjennerud T, Reif A, Rice F, Ricken R, Rietschel M, Rivera M, Rück C, Salum G, Schaefer C, Sen S, Serretti A, Skalkidou A, Smoller J, Stein D, Stein F, Stein M, Sullivan P, Tesli M, Thorgeirsson T, Tiemeier H, Timpson N, Uddin M, Uher R, van Heel D, Verweij K, Walters R, Wassertheil-Smoller S, Wendland J, Werge T, Zwinderman A, Kuchenbaecker K, Wray N, Ripke S, Lewis C, McIntosh A. Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. Cell 2025, 188: 640-652.e9. PMID: 39814019, PMCID: PMC11829167, DOI: 10.1016/j.cell.2024.12.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCell-type enrichment analysisSingle-cell dataTrans-ancestryAdmixed ancestrySingle-cell analysisFine-mappingPotential repurposing opportunitiesAssociation studiesGene associationsEnrichment analysisReceptor clusteringPolygenic scoresRepurposing opportunitiesPostsynaptic densityCell typesStudies of depressionMedium spiny neuronsAncestryAntidepressant targetSpiny neuronsAmygdala neuronsLociBiological targetsEffective treatmentSensitivity 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 ResearchMeSH KeywordsAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLung NeoplasmsMaleMendelian Randomization AnalysisMiddle AgedRisk FactorsStress, PsychologicalConceptsLung 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
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts
Katrinli S, Wani A, Maihofer A, Ratanatharathorn A, Daskalakis N, Montalvo-Ortiz J, Núñez-Ríos D, Zannas A, Zhao X, Aiello A, Ashley-Koch A, Avetyan D, Baker D, Beckham J, Boks M, Brick L, Bromet E, Champagne F, Chen C, Dalvie S, Dennis M, Fatumo S, Fortier C, Galea S, Garrett M, Geuze E, Grant G, Hauser M, Hayes J, Hemmings S, Huber B, Jajoo A, Jansen S, Kessler R, Kimbrel N, King A, Kleinman J, Koen N, Koenen K, Kuan P, Liberzon I, Linnstaedt S, Lori A, Luft B, Luykx J, Marx C, McLean S, Mehta D, Milberg W, Miller M, Mufford M, Musanabaganwa C, Mutabaruka J, Mutesa L, Nemeroff C, Nugent N, Orcutt H, Qin X, Rauch S, Ressler K, Risbrough V, Rutembesa E, Rutten B, Seedat S, Stein D, Stein M, Toikumo S, Ursano R, Uwineza A, Verfaellie M, Vermetten E, Vinkers C, Ware E, Wildman D, Wolf E, Young R, Zhao Y, van den Heuvel L, Uddin M, Nievergelt C, Smith A, Logue M. Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts. Genome Medicine 2024, 16: 147. PMID: 39696436, PMCID: PMC11658418, DOI: 10.1186/s13073-024-01417-1.Peer-Reviewed Original ResearchMeSH KeywordsAdultCpG IslandsDNA MethylationEpigenesis, GeneticEpigenomeFemaleGenome-Wide Association StudyHumansMaleMilitary PersonnelStress Disorders, Post-TraumaticConceptsEpigenome-wide association studiesDNA methylationPsychiatric Genomics ConsortiumPost-traumatic stress disorderAssociation studiesMeta-analysis of epigenome-wide association studiesMethylation levelsGenome-wide expression dataEpigenetic gene regulationBrain regionsPGC-PTSDAnnotated genesBlood cell proportionsCpG lociGene regulationSusceptibility to post-traumatic stress disorderExpression dataAssociated with post-traumatic stress disorderIllumina HumanMethylation450Genomics ConsortiumOccurrence of post-traumatic stress disorderAssociated with biological differencesCpGMultiple brain regionsPostmortem brain samplesEffects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, Engchuan W, Shanta O, Douard E, Proulx C, Jean-Louis M, Saci Z, Mollon J, Schultz L, Knowles E, Cox S, Porteous D, Davies G, Redmond P, Harris S, Schumann G, Dumas G, Labbe A, Pausova Z, Paus T, Scherer S, Sebat J, Almasy L, Glahn D, Jacquemont S. Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. Cell Genomics 2024, 4: 100721. PMID: 39667348, PMCID: PMC11701252, DOI: 10.1016/j.xgen.2024.100721.Peer-Reviewed Original ResearchMeSH KeywordsAdultBrainCognitionDNA Copy Number VariationsFemaleGene DosageGenome-Wide Association StudyHumansMaleConceptsCopy-number variantsGenome-wide association studiesAssociation studiesCognitive abilitiesBiological processesEffect of gene dosageNeurodevelopmental disordersAssociated with cognitionHigher cognitive performanceGene dosageGene setsAssociated with higher cognitive performanceCognitive performanceGenesCell typesEffect sizeCognitionDeletionDuplicationDisordersNon-brain tissuesMedical comorbiditiesAbilityVariantsBrainSyndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte J, Cole J, Shriver M, Marazita M, Weinberg S, Walsh S, Richmond S, Klein O, Spritz R, Peeters H, Hallgrímsson B, Claes P. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nature Communications 2024, 15: 10458. PMID: 39622794, PMCID: PMC11612227, DOI: 10.1038/s41467-024-54839-1.Peer-Reviewed Original ResearchMeSH KeywordsAchondroplasiaAdolescentAdultAnimalsCase-Control StudiesChildFaceFemaleGenome-Wide Association StudyHumansMaleMiceMultifactorial InheritancePhenotypePolymorphism, Single NucleotideConceptsMultivariate GWASMendelian phenotypesComplex traitsPolygenic backgroundMendelian disordersPolygenic basisGenetic variationGenetic variantsGenetic intersectionAchondroplasia phenotypePhenotypic spectrumPhenotypeGenesSkeletal developmentShape axesCraniofacial shapeGWASFacial variationsThree-dimensional facial scansGeneral populationTraitsControl scoresVariationControl samplesVariantsGenome-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 MGAutoimmune 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 association
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