2025
The Brain Care Score and its associations with cardiovascular disease and cancer
Senff J, Rivier C, Tack R, Tan B, Kimball T, Brouwers H, Newhouse A, Fricchione G, Tanzi R, Yechoor N, Chemali Z, Anderson C, Rosand J, Falcone G, Singh S. The Brain Care Score and its associations with cardiovascular disease and cancer. Family Practice 2025, 42: cmaf034. PMID: 40464807, DOI: 10.1093/fampra/cmaf034.Peer-Reviewed Original ResearchConceptsLate-life depressionIncidence of cardiovascular diseaseCare scoresCardiovascular diseaseUK Biobank (UKBCases of cardiovascular diseaseRisk of dementiaHealth-related behaviorsIncident cardiovascular diseaseModifiable risk factorsCases of cancerCancer typesUKB participantsCox proportional hazards regression analysisProportional hazards regression analysisHazards regression analysisHealthy agingRisk factorsUKBDementiaRegression analysisFollow-upParticipantsAge-related brain diseasesBaselineArtificial Intelligence–Enabled Prediction of Heart Failure Risk From Single-Lead Electrocardiograms
Dhingra L, Aminorroaya A, Pedroso A, Khunte A, Sangha V, McIntyre D, Chow C, Asselbergs F, Brant L, Barreto S, Ribeiro A, Krumholz H, Oikonomou E, Khera R. Artificial Intelligence–Enabled Prediction of Heart Failure Risk From Single-Lead Electrocardiograms. JAMA Cardiology 2025, 10: 574-584. PMID: 40238120, PMCID: PMC12004248, DOI: 10.1001/jamacardio.2025.0492.Peer-Reviewed Original ResearchYale New Haven Health SystemELSA-BrasilPCP-HFNew-onset HFHarrell's C-statisticProspective population-based cohortUK Biobank (UKBBrazilian Longitudinal StudyELSA-Brasil participantsC-statisticPopulation-based cohortIntegrated discrimination improvementReclassification improvementRisk of deathUKB participantsHealth systemRetrospective cohort studyDiscrimination improvementMain OutcomesLeft ventricular systolic dysfunctionHF riskUKBCohort studySingle-lead ECGIndependent of age
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 eventsHealth-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk
Marini S, Kimball T, Mayerhofer E, Tack R, Senff J, Prapiadou S, Rivier C, Duskin J, Kourkoulis C, Falcone G, Yechoor N, Tanzi R, Rosand J, Singh S, Parodi L, Anderson C. Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk. Neurology 2024, 103: e210014. PMID: 39504504, DOI: 10.1212/wnl.0000000000210014.Peer-Reviewed Original ResearchConceptsLate-life depressionGenetic riskDementia riskUK Biobank (UKBEffects of healthy lifestylesHealth-related behaviorsGenetic predispositionElevated genetic riskProspective cohort studyHazard of strokeCox proportional hazards modelsAge-related brain diseasesLifestyle behaviorsCare scoresUKB participantsProportional hazards modelHealthy lifestyleIncidence of strokeMultivariate Cox proportional hazards modelPolygenic scoresTargeted interventionsLifestyle adjustmentsAggregate risk estimatesRisk estimatesCohort studyMitochondrial Heteroplasmy Is a Novel Predictor of Chronic Lymphocytic Leukemia Risk
Pasca S, Hong Y, Shi W, Puiu D, Lake N, Lek M, Guallar E, Arking D, Gondek L. Mitochondrial Heteroplasmy Is a Novel Predictor of Chronic Lymphocytic Leukemia Risk. Blood 2024, 144: 4054-4054. DOI: 10.1182/blood-2024-210250.Peer-Reviewed Original ResearchMitochondrial heteroplasmyClonal hematopoiesis of indeterminate potentialMtDNA heteroplasmyWhole-exome sequencing dataSomatic mutationsPresence of somatic mutationsExome sequencing dataCancer-associated genesClonal hematopoiesisClonal expansionVariant allele frequencyAssociated with myeloid malignanciesMtDNA variantsMitochondrial DNAPresence of mutationsSequence dataUK Biobank (UKBBiologically significant roleDeleterious mutationsHeteroplasmyChronic lymphocytic leukemia riskAllele frequenciesOncogenic transformationMitochondrial functionMyeloid genesLife's Essential 8 and Poor Brain Health Outcomes in Middle-Aged Adults
Clocchiatti-Tuozzo S, Rivier C, Renedo D, Huo S, Hawkes M, de Havenon A, Schwamm L, Sheth K, Gill T, Falcone G. Life's Essential 8 and Poor Brain Health Outcomes in Middle-Aged Adults. Neurology 2024, 103: e209990. PMID: 39442069, PMCID: PMC11498939, DOI: 10.1212/wnl.0000000000209990.Peer-Reviewed Original ResearchConceptsLife's Essential 8Poor cardiovascular healthCardiovascular healthBrain healthLife's Essential 8 scoreUnadjusted riskEssential 8Determinants of cardiovascular healthUK Biobank (UKBCardiovascular health profileModifiable cardiovascular risk factorsBrain health outcomesRisk factorsComposite outcomePublic health constructsPopulation studiesMiddle-aged adultsCox modelLate-life depressionCox proportional hazards modelsBrain health benefitsMultivariate Cox modelCardiovascular risk factorsFollow-up timeAoU participants94. 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 cortex47. GENE DISCOVERY AND BIOLOGICAL INSIGHTS INTO ANXIETY DISORDERS FROM A MULTI-ANCESTRY GENOME-WIDE ASSOCIATION STUDY OF > 1.2 MILLION PARTICIPANTS
Friligkou E, Løkhammer S, Mendoza B, Shen J, He J, Deiana G, Zanoaga M, Asgel Z, Pilcher A, Di Lascio L, Makharashvili A, Koller D, Tylee D, Pathak G, Polimanti R. 47. GENE DISCOVERY AND BIOLOGICAL INSIGHTS INTO ANXIETY DISORDERS FROM A MULTI-ANCESTRY GENOME-WIDE ASSOCIATION STUDY OF > 1.2 MILLION PARTICIPANTS. European Neuropsychopharmacology 2024, 87: 74-75. DOI: 10.1016/j.euroneuro.2024.08.161.Peer-Reviewed Original ResearchMillion Veteran ProgramPolygenic riskLatent causal variable methodMulti-tissue transcriptome-wide association studyUK Biobank (UKBGenetic correlationsTranscriptome-wide association studyAnxiety disordersGenomic structural equation modelingLD score regressionLocal genetic correlationGWAS Meta-AnalysisProteome-wide analysisGenetics of anxietyAssociated with anxietyMulti-omics informationS-MultiXcanVeteran ProgramLD scoresAncestry-specificTranscriptome-wideAncestral populationsCross-ancestryGene discoveryAssociation studiesDistinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records
Løkhammer S, Koller D, Wendt F, Choi K, He J, Friligkou E, Overstreet C, Gelernter J, Hellard S, Polimanti R. Distinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records. Psychiatry Research 2024, 337: 115950. PMID: 38744179, PMCID: PMC11156529, DOI: 10.1016/j.psychres.2024.115950.Peer-Reviewed Original ResearchElectronic health recordsPosttraumatic stress disorderHealth recordsPTSD vulnerabilityUK Biobank (UKBPhenome-wide association studyRisk scorePhenotype risk scoreUs Research ProgramPolygenic risk scoresStress disorderAoU participantsUKB participantsPresence of posttraumatic stress disorderTrauma burdenGenetic riskPosttraumatic stress disorder symptomsAssociation studiesPheWASClinical comorbiditiesComorbid associationsEye conditionsAOUInverse relationshipMultiple phenotypesThe relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank
Don J, Schork A, Glusman G, Rappaport N, Cummings S, Duggan D, Raju A, Hellberg K, Gunn S, Monti S, Perls T, Lapidus J, Goetz L, Sebastiani P, Schork N. The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank. GeroScience 2024, 46: 3911-3927. PMID: 38451433, PMCID: PMC11226417, DOI: 10.1007/s11357-024-01107-1.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresDisease-Associated VariantsPolygenic scoresParental lifespanLarge-scale genome-wide association studiesUK Biobank (UKBEffects of disease-associated variantsTests of associationUK BiobankGenetic architecturePopulation structureAssociation studiesPolygenic basisAssociated with parental lifespanDisease traitsPolygenic componentGenetic variantsRisk scoreDisease susceptibilityHuman longevityGenetic predispositionHealthTraitsHealth spanEstimating the direct effects of the genetic liabilities to bipolar disorder, schizophrenia, and behavioral traits on suicide attempt using a multivariable Mendelian randomization approach
Cabrera-Mendoza B, Aydin N, Fries G, Docherty A, Walss-Bass C, Polimanti R. Estimating the direct effects of the genetic liabilities to bipolar disorder, schizophrenia, and behavioral traits on suicide attempt using a multivariable Mendelian randomization approach. Neuropsychopharmacology 2024, 49: 1383-1391. PMID: 38396255, DOI: 10.1038/s41386-024-01833-2.Peer-Reviewed Original ResearchAssociated with higher oddsPsychiatric Genomics ConsortiumSubstance use disordersSocioeconomic factorsMendelian randomizationBipolar disorderGenetic liabilitySuicide attemptsHigher oddsTwo-sample Mendelian randomizationGenetic liability to bipolar disorderEffects of mental distressUK Biobank (UKBLiability to bipolar disorderMultivariable MR approachMendelian randomization approachComprehensive mental health assessmentGenome-wide association dataRisk of psychiatric disordersMental health assessmentBehavioral traitsAssociated with lonelinessHigh-risk individualsMental distressContext of SAAssociation of Somatic TET2 Mutations With Giant Cell Arteritis
Robinette M, Weeks L, Kramer R, Agrawal M, Gibson C, Yu Z, Sekar A, Mehta A, Niroula A, Brown J, McDermott G, Reshef E, Lu J, Liou V, Chiou C, Natarajan P, Freitag S, Rao D, Ebert B. Association of Somatic TET2 Mutations With Giant Cell Arteritis. Arthritis & Rheumatology 2024, 76: 438-443. PMID: 37909388, PMCID: PMC10922498, DOI: 10.1002/art.42738.Peer-Reviewed Original ResearchConceptsGiant cell arteritisClonal hematopoiesisHematologic malignanciesTET2 mutationsVision lossSomatic TET2 mutationsClinical phenotypes of giant cell arteritisDevelopment of giant cell arteritisGiant cell arteritis diagnosisAssociated with vision lossSomatic mutationsPresence of somatic mutationsIncident giant cell arteritisDevelopment of hematological malignanciesUKB participantsInfluence clinical outcomesMultivariate Cox regressionSomatic genetic testingPresence of mutationsElectronic health record reviewHealth record reviewUK Biobank (UKBGCA cohortClinical outcomesClonal mutationsImpaired mobility and MRI markers of vascular brain injury: Atherosclerosis Risk in Communities and UK Biobank studies
Sharma R, de Havenon A, Rivier C, Payabvash S, Forman R, Krumholz H, Falcone G, Sheth K, Kernan W. Impaired mobility and MRI markers of vascular brain injury: Atherosclerosis Risk in Communities and UK Biobank studies. BMJ Neurology Open 2024, 6: e000501. PMID: 38288313, PMCID: PMC10823923, DOI: 10.1136/bmjno-2023-000501.Peer-Reviewed Original ResearchVascular brain injurySlow walkingAtherosclerosis RiskMobility impairmentsAssociated with mobility impairmentImpaired mobilityUK Biobank (UKBStroke-free cohortMarkers of vascular brain injuryAdjusted multivariate logistic regression analysisGait dataMultivariate logistic regression analysisCommunity-dwellingLogistic regression analysisBrain injuryARICUKBInclusion criteriaStudy cohortWalkingClinical strokeRegression analysisImpaired outcomeMRI markersStudy background
2023
Body mass index and cancer risk among adults with and without cardiometabolic diseases: evidence from the EPIC and UK Biobank prospective cohort studies
Fontvieille E, Viallon V, Recalde M, Cordova R, Jansana A, Peruchet-Noray L, Lennon H, Heath A, Aune D, Christakoudi S, Katzke V, Kaaks R, Inan-Eroglu E, Schulze M, Mellemkjær L, Tjønneland A, Overvad K, Farràs M, Petrova D, Amiano P, Chirlaque M, Moreno-Iribas C, Tin Tin S, Masala G, Sieri S, Ricceri F, Panico S, May A, Monninkhof E, Weiderpass E, Gunter M, Ferrari P, Freisling H. Body mass index and cancer risk among adults with and without cardiometabolic diseases: evidence from the EPIC and UK Biobank prospective cohort studies. BMC Medicine 2023, 21: 418. PMID: 37993940, PMCID: PMC10666332, DOI: 10.1186/s12916-023-03114-z.Peer-Reviewed Original ResearchConceptsRisk due to interactionObesity-related cancersRisk of obesity-related cancersBody mass indexHigher Body Mass IndexCardiometabolic diseasesJoint associationsHazard ratioCancer riskIncidence of obesity-related cancersJoint association of body mass indexCardiovascular diseaseConfidence intervalsRisk of overall cancerExcess risk due to interactionAssociation of body mass indexSurrogate measure of adiposityUK Biobank prospective cohortCategories of overweight/obesityUK Biobank (UKBAdditive interactionMass indexCardiometabolic disease statusParticipant data meta-analysisCancer risk reduction
2020
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks
Salvatore M, Beesley L, Fritsche L, Hanauer D, Shi X, Mondul A, Pearce C, Mukherjee B. Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks. Journal Of Biomedical Informatics 2020, 113: 103652. PMID: 33279681, PMCID: PMC7855433, DOI: 10.1016/j.jbi.2020.103652.Peer-Reviewed Original ResearchConceptsElectronic health recordsPolygenic risk scoresElectronic health record dataMichigan Genomics InitiativePhenotype risk scoreHigh-risk individualsPancreatic cancer diagnosisBody mass indexRisk scoreCancer diagnosisMedical phenomeUK Biobank (UKBHealth record dataSource of patient informationRisk predictionHypothesis-generating associationsDisease risk predictionHealth recordsUnadjusted associationsDrinking statusSmoking statusEpidemiological covariatesUKBPatient informationMultivariate associations
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