2025
Statistical Methods for Chemical Mixtures: A Roadmap for Practitioners Using Simulation Studies and a Sample Data Analysis in the PROTECT Cohort
Hao W, Cathey A, Aung M, Boss J, Meeker J, Mukherjee B. Statistical Methods for Chemical Mixtures: A Roadmap for Practitioners Using Simulation Studies and a Sample Data Analysis in the PROTECT Cohort. Environmental Health Perspectives 2025, 133: 067019. PMID: 40392783, PMCID: PMC12178341, DOI: 10.1289/ehp15305.Peer-Reviewed Original ResearchConceptsEnvironmental risk scoreMixtures researchBirth outcomesSummary scoreSimulation studyBirth cohortIllustrative data analysisData analysisPolycyclic aromatic hydrocarbonsRisk scoreBinary outcomesEpidemiological studiesHealth impactsRisk stratificationCumulative measureInferential goalsIntegrated R packagePractitionersChemical mixturesImprove risk stratificationPROTECT cohortSimulation settingsCohortScoresExposure to chemical mixturesLinking prolonged childhood and adolescent loneliness to schizophrenia spectrum disorders: results from EU-GEI study.
Andreu-Bernabeu Á, González-Peñas J, Mora A, Bernardo M, Mezquida G, Amoretti S, Bobes J, Saiz P, García-Portilla M, Sanjuan J, Santos J, Jiménez-López E, Arrojo M, Carracedo A, Parellada M, Maric N, Atbaşoğlu C, Üçok A, Alptekin K, Saka M, Pries L, O'Donovan M, van Os J, Rutten B, Delespaul P, Guloksuz S, Arango C, Díaz-Caneja C. Linking prolonged childhood and adolescent loneliness to schizophrenia spectrum disorders: results from EU-GEI study. The British Journal Of Psychiatry 2025, 1-9. PMID: 40519115, DOI: 10.1192/bjp.2025.100.Peer-Reviewed Original ResearchGene-environment interactionsGenetic riskSchizophrenia spectrum disordersAdverse mental health outcomesGenetic liabilityAssociated with higher oddsPolygenic risk scoresIdentification of high-risk individualsMental health outcomesRelative excess riskHigh-risk individualsEU-GEILogistic regression modelsHealth outcomesExcess riskHigher oddsPrevention strategiesVulnerable populationsRisk scoreRegression modelsLonelinessEarly identificationLong-term effectsWorsening symptomsAssociated with psychosisNovel risk score for patients undergoing Impella-assisted high-risk percutaneous coronary intervention
Lemor A, Shah T, Thompson J, Protty M, Mamas M, Kinnaird T, Bharadwaj A, Truesdell A, Schonning M, Zhang Y, Hussain Y, Falah B, Cohen D, Redfors B, Baron S, Witzke C, Dixon S, Basir M, Lansky A, O'Neill W. Novel risk score for patients undergoing Impella-assisted high-risk percutaneous coronary intervention. Cardiovascular Revascularization Medicine 2025 PMID: 40541479, DOI: 10.1016/j.carrev.2025.05.031.Peer-Reviewed Original ResearchNational Cardiovascular Data RegistryHigh-risk percutaneous coronary interventionRisk scoreBedside risk scoreIn-hospital mortalityPercutaneous coronary interventionC-indexPercutaneous left ventricular assist deviceCoronary interventionLeft ventricular ejection fractionPredictors of in-hospital mortalityVentricular ejection fractionPre-procedural variablesPoor goodness of fitNovel risk scoreIn-hospital eventsAcute myocardial infarctionLeft main diseaseData RegistryComplex high-riskClinical decisionsEjection fractionMultivariate regressionLeft ventricular assist deviceHigh riskThe Eating Disorders Genetics Initiative 2 (EDGI2): study protocol
Berthold N, MacDermod C, Thornton L, Parker R, Morales S, Hog L, Kennedy H, Guintivano J, Sullivan P, Crowley J, Johnson J, Birgegård A, Fundín B, Frans E, Xu J, “Ngāti Pūkenga” M, Miller A, Aguilar M, Barakat S, Abdulkadir M, White J, Larsen J, Trujillo E, Winterman B, Zhang R, Lawson R, Wonderlich S, Wonderlich J, Schaefer L, Mehler P, Oakes J, Foster M, Gaudiani J, Vacuán E, Compte E, Petersen L, Yilmaz Z, Micali N, Jordan J, Kennedy M, Maguire S, Huckins L, Lu Y, Dinkler L, Martin N, Bulik C. The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol. BMC Psychiatry 2025, 25: 532. PMID: 40419993, PMCID: PMC12105188, DOI: 10.1186/s12888-025-06777-5.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresAvoidant/restrictive food intake disorderCalculate polygenic risk scoresNational Patient RegisterPsychiatric Genomics ConsortiumEating disordersLongstanding illnessEating Disorders Working GroupUnited StatesPatient RegisterCase-controlNew ZealandCase identificationGenetic architectureEvaluate clinical outcomesFood intake disorderRisk scoreClinically relevant phenotypesStudy protocolQuestionnaire batteryFunctional biologySymptom levelsAncestral backgroundMetabolic traitsGenomics ConsortiumBody fluid biomarkers and psychosis risk in The Accelerating Medicines Partnership® Schizophrenia Program: design considerations
Perkins D, Jeffries C, Clark S, Upthegrove R, Wannan C, Wray N, Li Q, Do K, Walker E, Paul Amminger G, Anticevic A, Cotter D, Ellman L, Mongan D, Phassouliotis C, Barbee J, Roth S, Billah T, Corcoran C, Calkins M, Cerrato F, Khadimallah I, Klauser P, Winter-van Rossum I, Nunez A, Bleggi R, Martin A, Bouix S, Pasternak O, Shah J, Toben C, Wolf D, Kahn R, Kane J, McGorry P, Bearden C, Nelson B, Shenton M, Woods S. Body fluid biomarkers and psychosis risk in The Accelerating Medicines Partnership® Schizophrenia Program: design considerations. Schizophrenia 2025, 11: 78. PMID: 40399418, PMCID: PMC12095529, DOI: 10.1038/s41537-025-00610-4.Peer-Reviewed Original ResearchClinical outcomesPsychosis riskChronic systemic inflammationLevels of biomarkersResults of bloodTwo-month follow-upSystemic inflammationSaliva levelsSalivary cortisol levelsFollow-upCollection of bloodBody fluid biomarkersCHR criteriaSchizophrenia ProgramPolygenic risk scoresRisk scoreMental disordersBlood proteomeSchizophreniaPreanalytical factorsBiomarkersBloodPolygenic scoresSaliva samplesCortisol levelsImpacts of sample weighting on transferability of risk prediction models across EHR-Linked biobanks with different recruitment strategies
Salvatore M, Mondul A, Friese C, Hanauer D, Xu H, Pearce C, Mukherjee B. Impacts of sample weighting on transferability of risk prediction models across EHR-Linked biobanks with different recruitment strategies. Journal Of Biomedical Informatics 2025, 167: 104853. PMID: 40398830, DOI: 10.1016/j.jbi.2025.104853.Peer-Reviewed Original ResearchConceptsPS weightingRisk prediction modelOdds ratioArea under the receiver operating curveEHR-linked biobanksMichigan Genomics InitiativePhenotype risk scoreYears prior to diagnosisRisk score distributionCancer risk stratificationHigh-risk populationImprove risk predictionEHR dataPoststratification weightsRecruitment strategiesRisk stratificationCharlson Comorbidity IndexAlcohol consumptionRisk scoreBiobankRisk factorsRisk predictionUnderrepresented groupsComorbidity indexReceiver operating curveImproving Cardiovascular Clinical Competencies for the Menopausal Transition A Focus on Cardiometabolic Health in Midlife
Dastmalchi L, Gulati M, Thurston R, Lau E, Sarma A, Marfori C, Gaffey A, Faubion S, Laddu D, Shufelt C, Sharma G. Improving Cardiovascular Clinical Competencies for the Menopausal Transition A Focus on Cardiometabolic Health in Midlife. JACC Advances 2025, 4: 101791. PMID: 40392169, DOI: 10.1016/j.jacadv.2025.101791.Peer-Reviewed Original ResearchWomen's cardiovascular healthCardiovascular healthCardiovascular diseaseMenopausal transitionCardiovascular disease risk scoreSystemic menopausal hormone therapyMental health changesCardiovascular disease riskMenopausal hormone therapyManagement of cardiovascular diseaseCardiometabolic healthHealth changesClinical competenceMedical trainingInfluence of chronological ageHormone therapyPostgraduate curriculaRisk scoreScreening toolVasomotor symptomsOvarian agingHealthSleep problemsHormonal changesLongitudinal studyCharacterizing the Social Epigenome in Mexican Patients with Early-Onset Psychosis
Ruiz-Ramos D, Martínez-Magaña J, Juárez-Rojop I, Nolasco-Rosales G, Sosa-Hernández F, Cruz-Castillo J, Cavazos J, Callejas A, Zavaleta-Ramírez P, Zorrilla-Dosal J, Lanzagorta N, Nicolini H, Montalvo-Ortiz J, Glahn D, Genis-Mendoza A. Characterizing the Social Epigenome in Mexican Patients with Early-Onset Psychosis. Genes 2025, 16: 591. PMID: 40428414, PMCID: PMC12111507, DOI: 10.3390/genes16050591.Peer-Reviewed Original ResearchConceptsEarly-onset psychosisRisk scoreEpigenetic ageEpigenome-wide association studiesAssociation studiesYears of educationShort life expectancyMexican patientsPsychiatric admissionsAssociation of DNA methylationSocial epigenomicsYears of schoolingAccelerated epigenetic agingLife expectancyAssociated with panic disorderEnvironmental exposuresEarly-onsetGlobal functioningClinical characteristicsClinical manifestationsDNA methylationAgeEpigenetic mechanismsPsychosisManifestation of psychosisOptimism moderates the relationship between inflammatory polygenic risk and major depressive disorder in U.S. Military veterans
Fischer I, Overstreet C, Cabrera-Mendoza B, Qiu D, Krystal J, Polimanti R, Gelernter J, Pietrzak R. Optimism moderates the relationship between inflammatory polygenic risk and major depressive disorder in U.S. Military veterans. The World Journal Of Biological Psychiatry 2025, 26: 189-198. PMID: 40343713, DOI: 10.1080/15622975.2025.2498352.Peer-Reviewed Original ResearchConceptsMajor depressive disorderU.S. military veteransPolygenic risk scoresDepressive disorderMilitary veteransMajor depressive disorder riskPsychosocial moderatorsMDD screeningLow optimismPolygenic riskHigher optimismNationally representative sampleTrauma burdenPredisposition to inflammationStandard deviation increaseUK BiobankGenetic riskPathway-based analysisVeteransIncreased oddsRepresentative sampleRisk scoreMedical conditionsInflammatory biomarkersChronic inflammationSex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis
Leavy O, Goemans A, Hernandez-Beeftink T, Stockwell A, Allen R, Guillen-Guio B, Adegunsoye A, Booth H, Fahy W, Fingerlin T, Virk H, Hall I, Hart S, Hill M, Hirani N, Kaminski N, Ma S, McAnulty R, Sheng X, Millar A, Molina-Molina M, Navaratnam V, Neighbors M, Parfrey H, Saini G, Sayers I, Strek M, Tobin M, Whyte M, Zhang Y, Maher T, Molyneaux P, Oldham J, Yaspan B, Flores C, Martinez F, Reynolds C, Schwartz D, Noth I, Jenkins R, Wain L. Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis. ERJ Open Research 2025, 00200-2025. DOI: 10.1183/23120541.00200-2025.Peer-Reviewed Original ResearchPolygenic risk scoresIdiopathic pulmonary fibrosis riskGenetic association signalsIdiopathic pulmonary fibrosis susceptibilitySNP-based polygenic risk scoresAssociation signalsSex-specific genetic effectsGenetic risk predictionEvaluate genetic risksSex-specific associationsStudy meta-analysisEuropean genetic ancestryCase-control studyIdiopathic pulmonary fibrosisChronic lung conditionsGenetic riskAutosomal variantsSusceptibility to idiopathic pulmonary fibrosisRisk scoreGenetic ancestryDiagnostic biasAssociation resultsClinical prediction modelGenetic variantsMeta-analysis507. Polygenic Risk Scores Among Cognitive Subtypes of Psychosis Probands and Their Unaffected Relatives: A BSNIP Study
Charpentier J, Meda S, Dykins M, Hill S, Clementz B, McDowell J, Keedy S, Ivleva E, Tamminga C, Keshavan M, Pearlson G. 507. Polygenic Risk Scores Among Cognitive Subtypes of Psychosis Probands and Their Unaffected Relatives: A BSNIP Study. Biological Psychiatry 2025, 97: s306. DOI: 10.1016/j.biopsych.2025.02.746.Peer-Reviewed Original ResearchThe Disposition Index in Autoantibody-Positive Individuals at Risk for Type 1 Diabetes
Ismail H, Cuthbertson D, Galderisi A, Libman I, Jacobsen L, Moran A, Petrelli A, Atkinson M, Redondo M, Hannon T, Mather K, Sosenko J. The Disposition Index in Autoantibody-Positive Individuals at Risk for Type 1 Diabetes. Diabetes 2025, 74: 1196-1204. PMID: 40173211, PMCID: PMC12185960, DOI: 10.2337/db24-1000.Peer-Reviewed Original ResearchConceptsFirst-phase insulin responseArea under the curveArea under the curve ratioType 1 diabetesB cell functionAutoantibody-positive individualsDPT-1Glucose tolerance testMatsuda indexDisposition indexRegression modelsDiabetic rangeAnalyzed cross-sectionallyTolerance testDiabetes Prevention Trial-Type 1Oral glucose tolerance testProgression to type 1 diabetesStudy participantsCox regression modelsAntibody-positive relativesInsulin secretionPrediction of T1DRisk scoreIntravenous glucose tolerance testMeasure of B-cell functionBeyond Phecodes: leveraging PheMAP to identify patients lacking diagnosis codes in electronic health records
Yan C, Grabowska M, Thakkar R, Dickson A, Embí P, Feng Q, Denny J, Kerchberger V, Malin B, Wei W. Beyond Phecodes: leveraging PheMAP to identify patients lacking diagnosis codes in electronic health records. Journal Of The American Medical Informatics Association 2025, 32: 1007-1014. PMID: 40156924, PMCID: PMC12089765, DOI: 10.1093/jamia/ocaf055.Peer-Reviewed Original ResearchConceptsElectronic health recordsSensorineural hearing lossHearing lossDiagnosis codesHealth recordsPhenotype risk scorePatient recordsClinical terminologyProstate cancerType 2 diabetes mellitusRisk scoreDementiaExpert reviewT2DMPHEMAPPhenotype patientsProstatePatientsCancerPositive casesPhecodesResearch reliabilityDiagnosisRecordsPhenotypeLow Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit their Clinical Utility
Mollon J, Schultz L, Knowles E, Jacquemont S, Glahn D, Almasy L. Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit their Clinical Utility. Biological Psychiatry 2025 PMID: 40113122, DOI: 10.1016/j.biopsych.2025.03.006.Peer-Reviewed Original ResearchAlcohol use disorderPolygenic risk scoresSchizophrenia polygenic risk scoresPercentage of individualsHigh riskDepressive disorderLack of clinical utilityUse disorderValidity of polygenic risk scoresSchizophreniaClinical utilityMDDRisk scoreEffect sizeSNP effect sizesWhite British individualsDisordersHigh-risk individualsUK BiobankType 2 diabetesBritish individualsPRS-CSIndividualsT2DPsychiatryPredicting White Matter Hyperintensity: Leveraging Portable Magnetic Resonance Imaging for Accessible Brain Health Screening.
Johnson I, Brigger H, Smith J, Peasley E, Champagne A, Littig L, Lalwani D, Sze G, Payabvash S, Safdar B, D'Onofrio G, Wira C, Iglesias J, Rosen M, Sorby-Adams A, Kimberly W, Sheth K, de Havenon A. Predicting White Matter Hyperintensity: Leveraging Portable Magnetic Resonance Imaging for Accessible Brain Health Screening. American Journal Of Neuroradiology 2025, ajnr.a8734. PMID: 40081846, DOI: 10.3174/ajnr.a8734.Peer-Reviewed Original ResearchWhite matter hyperintensitiesWMH measuresMagnetic resonance imagingConventional MRIScreening pilot programRisk factorsValidation cohortHigh-risk individualsAcute neurologic pathologyVascular risk factorsTertiary care hospitalSystolic blood pressure >Resonance imagingDevelopment cohortWhite matter hyperintensities burdensHealth screeningTobacco useBlood pressure >Emergency departmentCare hospitalPortable MRIRisk scoreScreening toolPilot programPrimary outcomePolygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification
D'Aoust T, Clocchiatti‐Tuozzo S, Rivier C, Mishra A, Hachiya T, Grenier‐Boley B, Soumaré A, Duperron M, Le Grand Q, Bouteloup V, Proust‐Lima C, Samieri C, Neuffer J, Sargurupremraj M, Chêne G, Helmer C, Thibault M, Amouyel P, Lambert J, Kamatani Y, Jacqmin‐Gadda H, Tregouët D, Inouye M, Dufouil C, Falcone G, Debette S. Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification. Alzheimer's & Dementia 2025, 21: e70014. PMID: 40042447, PMCID: PMC11881617, DOI: 10.1002/alz.70014.Peer-Reviewed Original ResearchConceptsOlder community-dwelling peopleCommunity-dwelling peopleDementia risk stratificationVascular contribution to dementiaAssociated with dementia riskGenetic riskDementia clinical trialsApo E4Polygenic risk scoresGenetic risk groupsHigh-risk individualsDementia riskImprove risk predictionEast Asian ancestryAD-PRSPopulation-basedPolygenic scoresRisk stratificationMemory-clinic patientsPrevention programsClinical risk factorsDementiaClinical participantsRisk scoreAlzheimer's diseaseGastrointestinal Bleeding in the Older Adult: Pathophysiology, Evaluation, and Management
Sobani Z, Hung K. Gastrointestinal Bleeding in the Older Adult: Pathophysiology, Evaluation, and Management. Current Treatment Options In Gastroenterology 2025, 23: 4. DOI: 10.1007/s11938-025-00469-5.Peer-Reviewed Original ResearchOlder individualsManagement of modifiable risk factorsRisk factorsModifiable risk factorsProportion of individualsOlder AdultsYears of ageBleeding riskGI bleedingManagement of GI bleedingRisk scoreTiming of endoscopic interventionPeri-procedural anticoagulation managementNovel risk scoreComorbid conditionsGastrointestinal (GI) bleedingReduce mortalityHelicobacter pylori infectionMitigate bleeding riskMortalityEndoscopic therapyRiskPrevent rebleedingGastrointestinal bleedingAnticoagulation managementAssociation 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-nucleotideAtrial Functional Tricuspid Regurgitation Contemporary Characteristics, Outcomes, and Novel Risk Score
Fava A, Nakhla M, Hajj Ali A, Akintoye E, Akyuz K, Arockiam A, Haroun E, El Dahdah J, Liao Y, Popovic Z, Gillinov M, Pettersson G, Griffin B, Desai M, Wang T. Atrial Functional Tricuspid Regurgitation Contemporary Characteristics, Outcomes, and Novel Risk Score. JACC Advances 2025, 4: 101623. PMID: 40009906, PMCID: PMC11908566, DOI: 10.1016/j.jacadv.2025.101623.Peer-Reviewed Original ResearchRegurgitant orifice areaRight atrial volumeAF-TRTricuspid regurgitationAtrial volumeOrifice areaAtrial functional tricuspid regurgitationAssociated with 1-year mortalityEffective regurgitant orifice areaRisk scoreFunctional tricuspid regurgitationSevere tricuspid regurgitationEffective regurgitant orificeRight heart failureCohort of patientsSystolic pressure ratioIncreasing clinical recognitionMultivariate logistic regressionMedian survivalAdverse prognosticatorEchocardiographic characteristicsConsecutive patientsValve lesionsPoor prognosisRisk stratificationIndependent 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 effectsOutcomes
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