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 effectsThe genetic relationship between cannabis use disorder, cannabis use and psychiatric disorders
Galimberti M, Overstreet C, Gupta P, Beck S, Dao C, Deak J, Zhou H, Johnson E, Agrawal A, Stein M, Levey D, Gelernter J. The genetic relationship between cannabis use disorder, cannabis use and psychiatric disorders. Nature Mental Health 2025, 3: 700-708. DOI: 10.1038/s44220-025-00440-4.Peer-Reviewed Original ResearchGenomic structural equation modelingCannabis use disorderCannabis usePsychiatric disordersUse disorderStructural equation modelingIncreased rates of psychiatric disordersIncreasing prevalence of cannabis useRates of psychiatric disordersPrevalence of cannabis useThree-factor modelEquation modelingDepressive disorderPsychiatric traitsCannabisLocal genetic correlationDisordersGenetic correlationsMendelian randomization analysisTraitsRandomization analysisSchizophreniaADHDColocalization analysisIncreased riskBidirectional relationship between epigenetic age and stroke, dementia, and late-life depression
Rivier C, Szejko N, Renedo D, Clocchiatti-Tuozzo S, Huo S, de Havenon A, Zhao H, Gill T, Sheth K, Falcone G. Bidirectional relationship between epigenetic age and stroke, dementia, and late-life depression. Nature Communications 2025, 16: 1261. PMID: 39893209, PMCID: PMC11787333, DOI: 10.1038/s41467-024-54721-0.Peer-Reviewed Original ResearchThis study shows a bidirectional link between accelerated epigenetic aging and brain health events like stroke, dementia, and depression, supporting new prevention strategies for aging-related conditions.Associations 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
Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis
Lu Z, Ploner A, Birgegård A, Adan R, Alfredsson L, Ando T, Andreassen O, Baker J, Bergen A, Berrettini W, Birgegård A, Boden J, Boehm I, Perica V, Brandt H, Breen G, Bryois J, Buehren K, Bulik C, Burghardt R, Cassina M, Cichon S, Coleman J, Cone R, Courtet P, Crawford S, Crow S, Crowley J, Danner U, Davis O, de Zwaan M, Dedoussis G, DeSocio J, Dick D, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan L, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fischer K, Föcker M, Foretova L, Forstner A, Forzan M, Franklin C, Gallinger S, Giegling I, Giusti-Rodríguez P, Gonidakis F, Gordon S, Gorwood P, Mayora M, Grove J, Guillaume S, Guo Y, Hakonarson H, Halmi K, Hanscombe K, Hatzikotoulas K, Hauser J, Hebebrand J, Helder S, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Horwood L, Hübel C, Huckins L, Hudson J, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Johnson C, Jordan J, Julià A, Kalsi G, Kaminská D, Kaplan A, Kaprio J, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy J, Kennedy M, Keski-Rahkonen A, Kiezebrink K, Kim Y, Klareskog L, Klump K, Landén M, Larsen J, Le Hellard S, Leppä V, Li D, Lichtenstein P, Lilenfeld L, Lin B, Lissowska J, Luykx J, Maj M, Marsal S, Martin N, Mattheisen M, Mattingsdal M, Medland S, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Mitchell J, Monteleone A, Monteleone P, Mortensen P, Munn-Chernoff M, Nacmias B, Navratilova M, Ntalla I, Olsen C, Ophoff R, Padyukov L, Pantel J, Papezova H, Parker R, Pearson J, Pedersen N, Petersen L, Pinto D, Purves K, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ripke S, Ritschel F, Roberts M, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer S, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Landt M, Slopien A, Sorbi S, Strober M, Sullivan P, Świątkowska B, Szatkiewicz J, Tenconi E, Thornton L, Tortorella A, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, van Elburg A, van Furth E, Wade T, Wagner G, Watson H, Werge T, Whiteman D, Widen E, Woodside D, Yao S, Yilmaz Z, Zeggini E, Zerwas S, Zipfel S, Breen G, Bulik C, Bulik C, Bergen S. Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis. Schizophrenia Bulletin 2024, 50: 1255-1265. PMID: 38848516, PMCID: PMC11349005, DOI: 10.1093/schbul/sbae087.Peer-Reviewed Original ResearchPolygenic overlapConditional/conjunctional false discovery rateGenome-wide association studiesGenome-wide analysisConcordant effect directionsProportion of variantsNovel lociFalse discovery rateFunctional annotationGenetic architectureGenetic enrichmentAssociation studiesMultiple genesSynapse organizationMendelian randomization analysisGenetic associationCo-aggregationLociGenetic componentGenetic etiologyAnorexia nervosaFamilial co-aggregationDiscovery rateGenetic factorsRandomization analysisThe brain structure, inflammatory, and genetic mechanisms mediate the association between physical frailty and depression
Jiang R, Noble S, Rosenblatt M, Dai W, Ye J, Liu S, Qi S, Calhoun V, Sui J, Scheinost D. The brain structure, inflammatory, and genetic mechanisms mediate the association between physical frailty and depression. Nature Communications 2024, 15: 4411. PMID: 38782943, PMCID: PMC11116547, DOI: 10.1038/s41467-024-48827-8.Peer-Reviewed Original ResearchConceptsIncident depressionPre-frailPhysical frailtyFrail individualsPopulation attributable fraction analysisRisk factors of depressionMendelian randomization analysisFactors of depressionPotential causal effectModifiable risk factorsNon-frail individualsCross-sectional studyEffect of frailtyHigher disease burdenUK BiobankRandomization analysisBrain volumeDepression casesDisease burdenFrailtyRegional brain volumesIncreased riskDepressionHigh riskFollow-upOral Health as a Risk Factor for Spontaneous Intracerebral Hemorrhage: A Mendelian Randomization Analysis (S34.001)
Rivier C, Clocchiatti-Tuozzo S, Huo S, Renedo D, Hawkes M, Sunmonu N, Sheth K, Falcone G. Oral Health as a Risk Factor for Spontaneous Intracerebral Hemorrhage: A Mendelian Randomization Analysis (S34.001). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000204999.Peer-Reviewed Original ResearchPhenotypic and genetically predicted leucocyte telomere length and lung cancer risk in the prospective UK Biobank
Wong J, Blechter B, Hubbard A, Machiela M, Shi J, Gadalla S, Hu W, Rahman M, Rothman N, Lan Q. Phenotypic and genetically predicted leucocyte telomere length and lung cancer risk in the prospective UK Biobank. Thorax 2024, 79: 274-278. PMID: 38238005, PMCID: PMC10923134, DOI: 10.1136/thorax-2023-220076.Peer-Reviewed Original ResearchConceptsLung cancer riskLeucocyte telomere lengthCancer riskUK BiobankMendelian randomization analysisGenetic instrumentsIncident casesRandomization analysisNever smokersPolygenic scoresDose-response relationshipTelomere lengthCox regressionBiobankMultivariate Cox regressionRiskAssociationLung cancerNeverSmokersLungParticipants
2023
Brainwide Mendelian Randomization Study of Anxiety Disorders and Symptoms
Zanoaga M, Friligkou E, He J, Pathak G, Koller D, Cabrera-Mendoza B, Stein M, Polimanti R. Brainwide Mendelian Randomization Study of Anxiety Disorders and Symptoms. Biological Psychiatry 2023, 95: 810-817. PMID: 37967698, PMCID: PMC10978301, DOI: 10.1016/j.biopsych.2023.11.006.Peer-Reviewed Original ResearchImaging-derived phenotypesMiddle cingulate gyrusBrain imaging-derived phenotypesCingulate gyrusBrain structuresMultivariable Mendelian randomization analysesRight anterior superior temporal gyrusGray matter volumeMendelian randomizationAnterior superior temporal gyrusUK BiobankMendelian randomization studyFalse discovery rate correctionSuperior temporal gyrusMultivariable Mendelian randomizationMendelian randomization analysisMillion Veteran ProgramLarge cohortMatter volumeRandomization studySymptom-level analysesTemporal gyrusAnxiety disordersRandomization analysisGyrusF101. MENDELIAN RANDOMIZATION ANALYSIS OF THE EFFECTS OF ALCOHOL USE ON CANCER RISK
Zhou H, Yang B, Kranzler H, Gelernter J. F101. MENDELIAN RANDOMIZATION ANALYSIS OF THE EFFECTS OF ALCOHOL USE ON CANCER RISK. European Neuropsychopharmacology 2023, 75: s274. DOI: 10.1016/j.euroneuro.2023.08.480.Peer-Reviewed Original ResearchInverse variance weightingAlcohol useCancer riskOral/pharyngeal cancerOral cancer riskMendelian randomizationMendelian randomization analysisCumulative epidemiological evidenceSpecific cancer typesDevelopment of cancerPharyngeal cancerEsophageal cancerEpidemiological evidenceProblematic alcohol useAlcohol consumptionUnderreported populationCancerCancer typesMR studiesMR-PRESSOAlcohol-related phenotypesDifferent cancersRandomization analysisBreastMR-EggerAge at Menopause and the Risk of Stroke: Observational and Mendelian Randomization Analysis in 204 244 Postmenopausal Women
Tschiderer L, Peters S, van der Schouw Y, van Westing A, Tong T, Willeit P, Seekircher L, Moreno‐Iribas C, Huerta J, Crous‐Bou M, Söderholm M, Schulze M, Johansson C, Själander S, Heath A, Macciotta A, Dahm C, Ibsen D, Pala V, Mellemkjær L, Burgess S, Wood A, Kaaks R, Katzke V, Amiano P, Rodriguez‐Barranco M, Engström G, Weiderpass E, Tjønneland A, Halkjær J, Panico S, Danesh J, Butterworth A, Onland‐Moret N. Age at Menopause and the Risk of Stroke: Observational and Mendelian Randomization Analysis in 204 244 Postmenopausal Women. Journal Of The American Heart Association 2023, 12: e030280. PMID: 37681566, PMCID: PMC10547274, DOI: 10.1161/jaha.123.030280.Peer-Reviewed Original ResearchConceptsMendelian randomization analysisRisk of strokeStatistically significant associationRandomization analysisSignificant associationHistory of strokeEPIC-CVDPooled mean ageHigh risk of strokeUK BiobankYears younger ageBaseline ageHazard ratioStroke subtypesObservational studyPooled hazard ratioHemorrhagic strokeEarly menopauseYounger ageMean ageHigh riskMedian Follow-UpStrokeRegression analysisWomenHigher Hospital Frailty Risk Score Is Associated With Increased Risk of Stroke: Observational and Genetic Analyses
Renedo D, Acosta J, Koo A, Rivier C, Sujijantarat N, de Havenon A, Sharma R, Gill T, Sheth K, Falcone G, Matouk C. Higher Hospital Frailty Risk Score Is Associated With Increased Risk of Stroke: Observational and Genetic Analyses. Stroke 2023, 54: 1538-1547. PMID: 37216451, PMCID: PMC10212531, DOI: 10.1161/strokeaha.122.041891.Peer-Reviewed Original ResearchConceptsHospital Frailty Risk ScoreRisk of strokeHighest Hospital Frailty Risk ScoresDate of consentFrailty Risk ScoreMendelian randomization analysisStroke riskRisk scoreRandomization analysisTime of enrollmentAvailable electronic health recordsMendelian randomizationElectronic health recordsLook-back periodIncident strokeDose-response wayFrailty statusHemorrhagic strokeMultivariable analysisStroke eventsObservational studyHigh riskFrailtySignificant associationSimilar associationA genome-wide association study of frailty identifies significant genetic correlation with neuropsychiatric, cardiovascular, and inflammation pathways
Ye Y, Noche R, Szejko N, Both C, Acosta J, Leasure A, Brown S, Sheth K, Gill T, Zhao H, Falcone G. A genome-wide association study of frailty identifies significant genetic correlation with neuropsychiatric, cardiovascular, and inflammation pathways. GeroScience 2023, 45: 2511-2523. PMID: 36928559, PMCID: PMC10651618, DOI: 10.1007/s11357-023-00771-z.Peer-Reviewed Original ResearchConceptsFried frailty scoreBiology of frailtyEuropean descent participantsOccurrence of frailtyGenome-wide association studiesMendelian randomization analysisFrailty scoreChronic painJoint disordersPolygenic risk scoresRespiratory diseaseInflammation pathwaysRisk scoreClinical phenotypeBrain tissueCausal associationFrailtyAge-related pathwaysRandomization analysisGenetic factorsAssociation studiesUK BiobankRetirement StudyPerson's vulnerabilitySignificant genetic correlationsDyslipidemia and Risk of Preeclampsia: A Multiancestry Mendelian Randomization Study
Hosier H, Lipkind H, Rasheed H, DeWan A, Rogne T. Dyslipidemia and Risk of Preeclampsia: A Multiancestry Mendelian Randomization Study. Hypertension 2023, 80: 1067-1076. PMID: 36883459, DOI: 10.1161/hypertensionaha.122.20426.Peer-Reviewed Original ResearchConceptsRisk of preeclampsiaProtective effectCholesteryl Ester Transfer Protein InhibitionLack of effectMendelian randomization studyMendelian randomization analysisMaternal morbidityElevated HDLLeading causeLipid levelsObservational studyPreeclampsiaLipid measurementsReduced riskAncestry groupsPharmacological targetsRandomization studyHDLLDLRandomization analysisSingle nucleotide polymorphismsNew targetsDyslipidemiaRiskProtein inhibition
2022
Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study
Hernáez Á, Wootton RE, Page CM, Skåra KH, Fraser A, Rogne T, Magnus P, Njølstad PR, Andreassen OA, Burgess S, Lawlor DA, Magnus MC. Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. Fertility And Sterility 2022, 118: 180-190. PMID: 35562204, PMCID: PMC7612999, DOI: 10.1016/j.fertnstert.2022.04.001.Peer-Reviewed Original ResearchConceptsChild Cohort StudyCohort studySmoking intensityNorwegian MotherTobacco useMultivariable regressionGreater smoking intensityEffect of smokingHigher smoking intensityMendelian randomizationSelf-reported informationMendelian randomization analysisNationwide cohortProspective studySmoking cessationMendelian randomization resultsMAIN OUTCOMESmokingInfertilityTrue lackGenetic instrumentsRandomization analysisWomenMenRandomization results
2021
Risk of lower respiratory tract infections: a genome-wide association study with Mendelian randomization analysis in three independent European populations
Flatby HM, Rasheed H, Ravi A, Thomas LF, Liyanarachi KV, Afset JE, DeWan AT, Brumpton BM, Hveem K, Åsvold BO, Simonsen GS, Furberg AS, Damås JK, Solligård E, Rogne T. Risk of lower respiratory tract infections: a genome-wide association study with Mendelian randomization analysis in three independent European populations. Clinical Microbiology And Infection 2021, 28: 732.e1-732.e7. PMID: 34763054, DOI: 10.1016/j.cmi.2021.11.004.Peer-Reviewed Original ResearchConceptsLower respiratory tract infectionsRespiratory tract infectionsMendelian randomization analysisTract infectionsRisk factorsRisk of LRTICardiometabolic risk factorsSystolic blood pressureTrøndelag Health StudyPrevalence of smokingRandomization analysisBody mass indexCause of morbidityPotential risk factorsBlood pressureMass indexSuch hospitalizationsDisease burdenProtective effectHealth StudyIndependent European populationsLifetime smokingGenome-wide association studiesGenetic susceptibilitySmokingBody mass index and subfertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study
Hernáez Á, Rogne T, Skåra KH, Håberg SE, Page CM, Fraser A, Burgess S, Lawlor DA, Magnus MC. Body mass index and subfertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. Human Reproduction 2021, 36: 3141-3151. PMID: 34668019, PMCID: PMC8600658, DOI: 10.1093/humrep/deab224.Peer-Reviewed Original ResearchConceptsCohort studyBMI valuesMendelian randomization analysisMultivariable regressionGreater oddsMultivariable logistic regression modelSTUDY FUNDING/COMPETINGProject number 262700Risk of subfertilityRandomization analysisBody mass indexChild Cohort StudyPARTICIPANTS/MATERIALSUK National InstituteNational InstituteROLE OF CHANCELogistic regression modelsSelf-reported informationAssisted reproduction technologyObese menObese womenHigher BMILower BMIMass indexUS National InstitutesGenetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal Of Human Genetics 2021, 108: 1823-1835. PMID: 34469753, PMCID: PMC8546033, DOI: 10.1016/j.ajhg.2021.08.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorBlood PlateletsCase-Control StudiesChildFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLymphocytesMaleMendelian Randomization AnalysisMiddle AgedMonocytesNeutrophilsPrecursor Cell Lymphoblastic Leukemia-LymphomaPrognosisProspective StudiesQuantitative Trait LociUnited KingdomConceptsTrait-associated variantsMulti-trait GWASBlood cell homeostasisWide association studyGenetic risk lociTrait variationHematologic traitsRisk lociAssociation studiesCell typesGenetic determinantsLociInfluence susceptibilityUK BiobankMendelian randomization analysisGWASEtiological relevanceRandomization analysisTraitsHomeostasisSusceptibilityAcute lymphoblastic leukemia
2020
Body mass index and risk of dying from a bloodstream infection: A Mendelian randomization study
Rogne T, Solligård E, Burgess S, Brumpton BM, Paulsen J, Prescott HC, Mohus RM, Gustad LT, Mehl A, Åsvold BO, DeWan AT, Damås JK. Body mass index and risk of dying from a bloodstream infection: A Mendelian randomization study. PLOS Medicine 2020, 17: e1003413. PMID: 33196656, PMCID: PMC7668585, DOI: 10.1371/journal.pmed.1003413.Peer-Reviewed Original ResearchConceptsBody mass indexHigher Body Mass IndexBloodstream infectionsBSI incidenceBSI mortalityHazard ratioMass indexGeneral populationPopulation-based cohortAnalysis of patientsTerms of mortalityMendelian randomization studyTraditional epidemiological studiesMendelian randomization analysisObesity paradoxMean ageObservational studyEpidemiological studiesRandomization studyCausal associationSepsisMortalityPatientsInfectionRandomization analysisAssociation of OPRM1 Functional Coding Variant With Opioid Use Disorder
Zhou H, Rentsch CT, Cheng Z, Kember RL, Nunez YZ, Sherva RM, Tate JP, Dao C, Xu K, Polimanti R, Farrer LA, Justice AC, Kranzler HR, Gelernter J. Association of OPRM1 Functional Coding Variant With Opioid Use Disorder. JAMA Psychiatry 2020, 77: 1072-1080. PMID: 32492095, PMCID: PMC7270886, DOI: 10.1001/jamapsychiatry.2020.1206.Peer-Reviewed Original ResearchConceptsOpioid use disorderUse disordersMendelian randomization analysisAfrican American individualsMAIN OUTCOMEFunctional coding variantSignificant associationCausal associationRandomization analysisElectronic health record dataCurrent opioid crisisAmerican individualsHealth record dataCognitive performanceInternational Statistical ClassificationRelated Health ProblemsPotential causal associationAmerican controlsEuropean American controlsAfrican-American controlsCoding variantBuprenorphine treatmentOUD diagnosisTobacco smokingNinth Revision
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