2025
Germline-encoded recognition of peanut underlies development of convergent antibodies in humans
Marini-Rapoport O, Andrieux L, Keswani T, Zong G, Duchen D, Yaari G, Min J, Lytle I, Rosenberg A, Fucile C, Kobie J, Piepenbrink M, Sun T, Martin V, Yuan Q, Shreffler W, Seppo A, Järvinen K, Loeffler J, Ward A, Kleinstein S, Pedersen L, Fernández-Quintero M, Mueller G, Patil S. Germline-encoded recognition of peanut underlies development of convergent antibodies in humans. Science Translational Medicine 2025, 17: eadw4148. PMID: 40498852, DOI: 10.1126/scitranslmed.adw4148.Peer-Reviewed Original ResearchConceptsGene rearrangementsAllergen-specific IgG antibodiesPeanut-allergic childrenContext of food allergyGermline antibody repertoireDietary antigensAntibody gene rearrangementsPublic epitopesFood allergySerum IgGIgG antibodiesAntibody specificityImmunoglobulin GDiverse cohortAntibodiesAntibody repertoireAra h 2IgG recognitionEpitope-paratope interactionH-2AntigenGermlineIgGPeanut allergen Ara h 2Antigenicity of food proteinsGenetics and family history in a diverse cohort of females with early-onset breast cancer.
Shroff T, Proussaloglou E, Namboodiri A, Gross L, Gong G, Wei W, Giri V. Genetics and family history in a diverse cohort of females with early-onset breast cancer. Journal Of Clinical Oncology 2025, 43: 10613-10613. DOI: 10.1200/jco.2025.43.16_suppl.10613.Peer-Reviewed Original ResearchEarly-onset breast cancerFamily historyGenetic testingEarly-onset breast cancer riskFamily history of breast cancerClinical careFamily history of cancerHistory of breast cancerFamily history of breastDiverse cohortBreast cancerCancer genetics programPrevalence of pathogenic/likely pathogenic variantsWhite patientsGermline genetic testingDiverse racial/ethnic populationsGenetic test resultsComprehensive cancer centerBreast cancer susceptibility genesElectronic medical recordsCancer predisposition genesAshkenazi Jewish ancestryDiverse patient populationsCancer susceptibility genesDiverse cohort of patientsGreenspace proximity in relation to sleep health among a racially and ethnically diverse cohort of US women
Gaston S, Sweeney M, Patel S, Jennings V, Bratman G, Martinez-Miller E, Jackson W, Jones R, James P, Grigsby-Toussaint D, Sandler D, Jackson C. Greenspace proximity in relation to sleep health among a racially and ethnically diverse cohort of US women. Environmental Research 2025, 279: 121698. PMID: 40288743, PMCID: PMC12136992, DOI: 10.1016/j.envres.2025.121698.Peer-Reviewed Original ResearchConceptsHigher greenspaceFavorable sleepSleep healthSleep health measuresPromote physical activityNH White womenEstimate prevalence ratiosMagnitude of associationRacial-ethnic groupsEthnically diverse cohortPhysical activitySister StudyPrevalence ratiosRobust varianceUS womenHome addressPoisson regressionSocioeconomic statusHealth AssociationHealth measuresImprove moodOverall healthSleep disruptorsDiverse cohortSleep dimensionsGlobal cardiothoracic surgery: outcomes from a survey on current worldwide training programmes
Boyd R, Robinson J, Jindani R, Lehtinen M, Dorr F, Perazzo A, Manzini N, Eid M, Odera A, Hameed I, Youssef A, Kanna S, Jenkinson C, Turek J. Global cardiothoracic surgery: outcomes from a survey on current worldwide training programmes. Interdisciplinary CardioVascular And Thoracic Surgery 2025, 40: ivaf049. PMID: 40107982, PMCID: PMC11928929, DOI: 10.1093/icvts/ivaf049.Peer-Reviewed Original ResearchConceptsMinimum case requirementsTraining programmeLength of trainingTrainee experienceCardiothoracic surgical trainingCardiothoracic surgery traineesSupervision of traineesThoracic Surgery Residents AssociationCardiothoracic surgeryCommon barriersCardiothoracic surgeonsIncreased global collaborationSurgery traineesTrainee supervisionInadequate supervisionDiverse cohortTraining pathwaysTrainee interestSurgical trainingIncreased supervisionTraineesLack of standardizationTrainingWide variationsFacilitationRisk 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 ResearchConceptsBody 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 covariatesDifferencesRisk 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, Jarvik G, Ritchie M. Risk factors affecting polygenic score performance across diverse cohorts. ELife 2025, 12 DOI: 10.7554/elife.88149.3.Peer-Reviewed Original ResearchBody mass indexPolygenic scoresAssociated with body mass indexPolygenic score performancePhysical activityStandard deviation changeBMI effectsBMI individualsAlcohol consumptionDiverse cohortMass indexInteraction effectsRisk factorsBlood lipidsDeviation changeQuintileScore performanceCohortCovariatesBinary covariateAncestryContinuous covariatesModel R 2DifferencesScores
2024
Adapting a pain coping skills training intervention for people with chronic pain receiving maintenance hemodialysis for end stage Kidney disease
Steel J, Brintz C, Heapy A, Keefe F, Cheatle M, Jhamb M, McNeil D, Shallcross A, Kimmel P, Dember L, White D, Williams J, Cukor D. Adapting a pain coping skills training intervention for people with chronic pain receiving maintenance hemodialysis for end stage Kidney disease. Journal Of Behavioral Medicine 2024, 48: 298-307. PMID: 39627496, DOI: 10.1007/s10865-024-00534-x.Peer-Reviewed Original ResearchPain Coping Skills TrainingIn-center maintenance hemodialysisEnd stage kidney diseaseCoping skills training interventionChronic painStage kidney diseaseCoping skills trainingChronic medical conditionsSkills training interventionMaintenance hemodialysisNon-pharmacological treatmentEthnically diverse cohortIntervention adaptationKidney diseaseTraining interventionEffective interventionsOriginal interventionMultisite trialTime-intensive treatmentDiverse cohortMedical conditionsSkills trainingStudy populationInterventionIn-centerAssessing the Reliability of the Bleeding Assessment Scale in Critically Ill Children (BASIC) Definition: A Prospective Cohort Study
Nellis M, Chegondi M, Willems A, Alqatani M, McMichael A, Aran A, Lerner R, Karam O, Investigators A. Assessing the Reliability of the Bleeding Assessment Scale in Critically Ill Children (BASIC) Definition: A Prospective Cohort Study. Pediatric Critical Care Medicine 2024, 26: e3-e11. PMID: 39560732, PMCID: PMC11774477, DOI: 10.1097/pcc.0000000000003638.Peer-Reviewed Original ResearchCritically Ill ChildrenAssessment ScaleIll childrenBleeding severityIntra-rater reliabilityInter-rater reliabilityCohort of critically ill childrenChildren Aged 0Prospective cohort studyAssociated with increased 28-day mortalityEvaluation of bleedingActivated partial thromboplastin timeBedside nursesPatient demographic dataPartial thromboplastin timeTransfused blood componentsLonger hospital lengthParticipating PICUsCohort studyHemostatic medicationsDiverse cohortInotropic supportBleeding eventsSevere bleedingPlatelet countSeeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans
Owete A, Ionin R, Huryn L, Cukras C, Blain D, Agather A, Hufnagel R, Brooks B, Nwanyanwu K, Zein W. Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans. Translational Vision Science & Technology 2024, 13: 4. PMID: 39226063, PMCID: PMC11373706, DOI: 10.1167/tvst.13.9.4.Peer-Reviewed Original ResearchConceptsHereditary eye diseasesEye diseaseOphthalmic genetics researchAfrican American patientsAfrican AmericansGenomic researchEra of molecular geneticsRare diseaseWeb of ScienceAmerican patientsInclusion criteriaPatientsLiterature searchInclusion of African AmericansDiverse cohortPredetermined inclusion criteriaDiseasePatient careCounseling sessionsMolecular geneticsAncestral backgroundDiverse populationsMultimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population
Jiang J, Thi Vy H, Charney A, Kovatch P, Reddy V, Jayaraman P, Do R, Khera R, Chugh S, Bhatt D, Vaid A, Lampert J, Nadkarni G. Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population. Npj Digital Medicine 2024, 7: 226. PMID: 39181999, PMCID: PMC11344778, DOI: 10.1038/s41746-024-01218-1.Peer-Reviewed Original ResearchLong QT syndromeUnited Kingdom BiobankHigh-risk genotypesElectronic health record dataHealth record dataPathogenic variantsRacially/ethnically diverse cohortCongenital long QT syndromeLQTS-susceptibility genesRacially diverse populationMount Sinai BioMe BiobankPathogenic genetic mutationsQT corrected intervalArea under the receiver operating curveBioMe BiobankPatient prioritizationReceiver operating curveQT syndromeRecord dataDiverse cohortGenetic testingDiverse populationsPathogen genotypesGenetic mutationsPatientsWeight Nadir and Long-Term Weight Outcomes After Laparoscopic Sleeve Gastrectomy in a Diverse Cohort of Adolescents and Young Adults
Hornick M, Chao G, Ying L, Nadzam G, Duffy A, Ghiassi S, Graetz E, Gibbs K, Morton J. Weight Nadir and Long-Term Weight Outcomes After Laparoscopic Sleeve Gastrectomy in a Diverse Cohort of Adolescents and Young Adults. Obesity Surgery 2024, 34: 2965-2973. PMID: 38935262, DOI: 10.1007/s11695-024-07374-3.Peer-Reviewed Original ResearchPreoperative weightSleeve gastrectomyWeight nadirWeight outcomesIntroductionLaparoscopic sleeve gastrectomyLaparoscopic sleeve gastrectomyGroup of patientsWeight loss strategiesYoung adultsDiverse group of patientsCohort of adolescentsLongitudinal weight dataBariatric proceduresFollow-upNon-Hispanic blacksLoss strategiesMedical recordsPatientsTWLLSGWeight dataWeight recurrenceDiverse cohortGastrectomyWeight changeA phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals
Jennings M, Martínez-Magaña J, Courchesne-Krak N, Cupertino R, Vilar-Ribó L, Bianchi S, Hatoum A, Atkinson E, Giusti-Rodriguez P, Montalvo-Ortiz J, Gelernter J, Artigas M, 23andMe I, Aslibekyan S, Auton A, Babalola E, Bell R, Bielenberg J, Bryc K, Bullis E, Coker D, Partida G, Dhamija D, Das S, Elson S, Eriksson N, Filshtein T, Fitch A, Fletez-Brant K, Fontanillas P, Freyman W, Granka J, Heilbron K, Hernandez A, Hicks B, Hinds D, Jewett E, Jiang Y, Kukar K, Kwong A, Lin K, Llamas B, Lowe M, McCreight J, McIntyre M, Micheletti S, Moreno M, Nandakumar P, Nguyen D, Noblin E, O'Connell J, Petrakovitz A, Poznik G, Reynoso A, Schumacher M, Shastri A, Shelton J, Shi J, Shringarpure S, Su Q, Tat S, Tchakouté C, Tran V, Tung J, Wang X, Wang W, Weldon C, Wilton P, Wong C, Elson S, Edenberg H, Fontanillas P, Palmer A, Sanchez-Roige S. A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. EBioMedicine 2024, 103: 105086. PMID: 38580523, PMCID: PMC11121167, DOI: 10.1016/j.ebiom.2024.105086.Peer-Reviewed Original ResearchConceptsMultiple domains of healthDomains of healthEffects of alcohol consumptionAlcohol consumptionHealth outcomesPhenome-wide association studyAlcohol-related behaviorsCardio-metabolic healthPotential causal effectMendelian randomisation studiesGenome-wide association studiesPhenome-wide associationMR analysisPheWAS associationsMultiple domainsHypothesis-free approachPreventive medicineDiverse cohortPheWASAssociation studiesHealthReproductive healthAlcohol behaviorConsequences of drinkingEuropean cohortA Multidimensional and Longitudinal Exploratory Study of the Stability of Pregnancy Contexts in the United States
Markowitz M, Lundsberg L, Gariepy A. A Multidimensional and Longitudinal Exploratory Study of the Stability of Pregnancy Contexts in the United States. Women's Health Reports 2024, 5: 211-222. PMID: 38516649, PMCID: PMC10956533, DOI: 10.1089/whr.2024.0008.Peer-Reviewed Original ResearchFollow-upPregnancy outcomesPregnancy contextEnrollment to follow-upMedian gestational ageYears of ageGestational ageWeeks gestationPregnancy assessmentPregnancyCohort of individualsUrban clinicWilcoxon sign testDiverse cohort of individualsDiverse cohortLongitudinal assessmentEvaluate changesEnrollmentWeeksAbortionOutcomesLongitudinal studyAgeDeliveryGestation
2023
Autoimmune comorbidities associated with sarcoidosis: a case-control study in the All of Us research program
Murphy M, Edemobi P, Leasure A, Gulati M, Miller E, Damsky W, Cohen J. Autoimmune comorbidities associated with sarcoidosis: a case-control study in the All of Us research program. Rheumatology Advances In Practice 2023, 7: rkad030. PMID: 38606002, PMCID: PMC11007907, DOI: 10.1093/rap/rkad030.Peer-Reviewed Original ResearchCase-control studyAutoimmune diseasesSarcoidosis patientsMultivariable analysisOdds ratioSarcoidosis casesUs Research ProgramDiverse cohortConcomitant autoimmune diseasesRace-matched controlsMultiple autoimmune diseasesAutoimmune comorbiditiesSarcoidosisPatientsLogistic regressionDiseaseSmall sample sizeCareful screeningCohortAssociationSample sizeComposite variablePrior studiesComorbiditiesStudyUtility of Wrist-Wearable Data for Assessing Pain, Sleep, and Anxiety Outcomes After Traumatic Stress Exposure
Straus L, An X, Ji Y, McLean S, Neylan T, Cakmak A, Richards A, Clifford G, Liu M, Zeng D, House S, Beaudoin F, Stevens J, Linnstaedt S, Germine L, Bollen K, Rauch S, Haran J, Storrow A, Lewandowski C, Musey P, Hendry P, Sheikh S, Jones C, Punches B, Kurz M, Swor R, Hudak L, Seamon M, Datner E, Chang A, Pearson C, Peak D, Merchant R, Domeier R, Rathlev N, O’Neil B, Sergot P, Sanchez L, Bruce S, Miller M, Pietrzak R, Joormann J, Barch D, Pizzagalli D, Sheridan J, Harte S, Elliott J, Kessler R, Ressler K, Koenen K. Utility of Wrist-Wearable Data for Assessing Pain, Sleep, and Anxiety Outcomes After Traumatic Stress Exposure. JAMA Psychiatry 2023, 80: 220-229. PMID: 36630119, PMCID: PMC9857758, DOI: 10.1001/jamapsychiatry.2022.4533.Peer-Reviewed Original ResearchConceptsTraumatic stress exposureAdverse posttraumatic neuropsychiatric sequelaeEmergency departmentStress exposureNeuropsychiatric sequelaeGreater pain severityPain severityDerivation cohortNeuropsychiatric symptomsMean ageStudy criteriaSerial assessmentSleep disruptionMAIN OUTCOMEHigh incidenceUseful biomarkerBaseline assessmentPainSymptom severityDiverse cohortInformed consentPatientsSymptom domainsSleepDisadvantaged populationsDeficient butyrate-producing capacity in the gut microbiome is associated with bacterial network disturbances and fatigue symptoms in ME/CFS
Guo C, Che X, Briese T, Ranjan A, Allicock O, Yates R, Cheng A, March D, Hornig M, Komaroff A, Levine S, Bateman L, Vernon S, Klimas N, Montoya J, Peterson D, Lipkin W, Williams B. Deficient butyrate-producing capacity in the gut microbiome is associated with bacterial network disturbances and fatigue symptoms in ME/CFS. Cell Host & Microbe 2023, 31: 288-304.e8. PMID: 36758522, PMCID: PMC10183837, DOI: 10.1016/j.chom.2023.01.004.Peer-Reviewed Original ResearchConceptsME/CFSFaecalibacterium prausnitziiMyalgic encephalomyelitis/chronic fatigue syndromeFecal short-chain fatty acidsChronic fatigue syndromeShort-chain fatty acidsGut microbiome diversityGut dysbiosisGastrointestinal disturbancesTherapeutic trialsFatigue severityFatigue syndromeOrthostatic intoleranceValidation cohortHealthy controlsCognitive dysfunctionFatigue symptomsGut microbiomeDiverse cohortButyrate producersHuman gutPossible targetsEubacterium rectaleCohortMulti-omics analysisPsoriasis associated with asthma and allergic rhinitis: a US-based cross-sectional study using the All of US Research Program
Joel M, Fan R, Damsky W, Cohen J. Psoriasis associated with asthma and allergic rhinitis: a US-based cross-sectional study using the All of US Research Program. Archives Of Dermatological Research 2023, 315: 1823-1826. PMID: 36707438, DOI: 10.1007/s00403-023-02539-z.Peer-Reviewed Original ResearchConceptsAllergic rhinitisUS adultsUs Research ProgramCommon chronic inflammatory diseaseMultivariable logistic regression modelNationwide longitudinal cohortImmunopathogenesis of psoriasisBody mass indexChronic inflammatory diseaseCases of asthmaCross-sectional studyLogistic regression modelsMultivariable analysisSmoking statusMass indexInflammatory pathwaysSubgroup analysisInflammatory diseasesLongitudinal cohortHigh prevalenceAsthmaPsoriasisPotential associationDiverse cohortSociodemographic variables
2022
SARS-CoV-2 Testing and Positivity Among Persons With and Without HIV in 6 US Cohorts
Park LS, McGinnis KA, Gordon KS, Justice AC, Leyden W, Silverberg MJ, Skarbinski J, Jefferson C, Horberg M, Certa J, Napravnik S, Edwards JK, Westreich D, Bastarache L, Gangireddy S, Benning L, D'Souza G, Williams C, Althoff KN. SARS-CoV-2 Testing and Positivity Among Persons With and Without HIV in 6 US Cohorts. JAIDS Journal Of Acquired Immune Deficiency Syndromes 2022, 90: 249-255. PMID: 35195574, PMCID: PMC9203911, DOI: 10.1097/qai.0000000000002943.Peer-Reviewed Original ResearchConceptsSARS-CoV-2SARS-CoV-2 testingHIV statusClinical cohortPositive SARS-CoV-2 testSARS-CoV-2 positivitySARS-CoV-2 testCOVID-19-related outcomesProportion of PWHProportion of patientsSARS-CoV-2 variantsCOVID-19 vaccineLatest therapeutic optionsTherapeutic optionsUS cohortPositivity proportionInterval cohortPWHPWOHCohortHealth systemDiverse cohortHIVPositivityTesting proportions
2021
Association between atopic dermatitis and COVID-19 infection: A case-control study in the All of Us research program
Fan R, Leasure AC, Damsky W, Cohen JM. Association between atopic dermatitis and COVID-19 infection: A case-control study in the All of Us research program. JAAD International 2021, 6: 77-81. PMID: 34977817, PMCID: PMC8712258, DOI: 10.1016/j.jdin.2021.12.007.Peer-Reviewed Original ResearchCOVID-19 infectionCase-control studyMultivariable analysisAD patientsAtopic dermatitis patientsCOVID-19 outcomesCOVID-19COVID-19 diagnosisElectronic health recordsCommon comorbiditiesAtopic dermatitisDermatitis patientsAD severityCOVID-19 casesUS cohortRisk factorsClinical dataAD casesUs Research ProgramComorbiditiesDiverse cohortPatientsInfectionCohortHealth recordsDiscrimination and Calibration of the Veterans Aging Cohort Study Index 2.0 for Predicting Mortality Among People With Human Immunodeficiency Virus in North America
McGinnis KA, Justice AC, Moore RD, Silverberg MJ, Althoff KN, Karris M, Lima VD, Crane HM, Horberg MA, Klein MB, Gange SJ, Gebo KA, Mayor A, Tate JP, Benson C, Bosch R, Kirk G, Marconi V, Colasanti J, Mayer K, Grasso C, Hogg R, Lima V, Montaner J, Sereda P, Salters K, Buchacz K, Li J, Gebo K, Moore R, Moore R, Jacobson J, Horberg M, Silverberg M, Thorne J, Brown T, Tien P, D’Souza G, Smith G, Loutfy M, Gupta M, Klein M, Rabkin C, Kroch A, Burchell A, Betts A, Lindsay J, Nijhawan A, Mayor A, Gill M, Martin J, Li J, Brooks J, Saag M, Mugavero M, Willig J, Bamford L, Karris M, Eron J, Napravnik S, Kitahata M, Crane H, Sterling T, Haas D, Rebeiro P, Turner M, McGinnis K, Justice A, Moore R, Althoff K, Gange S, Kitahata M, Lee J, Saag M, Horberg M, Klein M, McKaig R, Freeman A, Moore R, Althoff K, Freeman A, Kitahata M, Van Rompaey S, Crane H, Morton L, McReynolds J, Lober W, Gange S, Lee J, Hogan B, You B, Humes E, Gerace L, Stewart C, Coburn S. Discrimination and Calibration of the Veterans Aging Cohort Study Index 2.0 for Predicting Mortality Among People With Human Immunodeficiency Virus in North America. Clinical Infectious Diseases 2021, 75: 297-304. PMID: 34609485, PMCID: PMC9410720, DOI: 10.1093/cid/ciab883.Peer-Reviewed Original ResearchConceptsNorth American AIDS Cohort CollaborationVACS Index 2.0National Death IndexHIV-1 RNAHuman immunodeficiency virusCopies/mLRisk of mortalityRace/ethnicityCohort CollaborationNA-ACCORDCause mortalityCD4 countMedian ageDeath IndexImmunodeficiency virusPredicting MortalityMortality ascertainmentMortality rateMortalitySpecific biomarkersPWHDiverse cohortObserved mortalityCohortHIV
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