Featured Publications
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
Fritsche L, Gruber S, Wu Z, Schmidt E, Zawistowski M, Moser S, Blanc V, Brummett C, Kheterpal S, Abecasis G, Mukherjee B. Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. American Journal Of Human Genetics 2018, 102: 1048-1061. PMID: 29779563, PMCID: PMC5992124, DOI: 10.1016/j.ajhg.2018.04.001.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresElectronic health recordsAssociations of polygenic risk scoresPhenome-wide significant associationsPolygenic risk score associationsLongitudinal biorepository effortNon-cancer diagnosesPatients' electronic health recordsPhenome-wide association studyAnalysis of temporal orderMichigan Genomics InitiativeRisk scoreAssociated with multiple phenotypesFemale breast cancerNHGRI-EBI CatalogRisk profileGenetic risk profilesMeasures of genomic variationCancer traitsCase-control studyPheWAS analysisHealth recordsHealth systemMichigan MedicineCancer diagnosis
2024
Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank
Jin W, Boss J, Bakulski K, Goutman S, Feldman E, Fritsche L, Mukherjee B. Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank. Journal Of Neurology 2024, 271: 6923-6934. PMID: 39249108, DOI: 10.1007/s00415-024-12644-2.Peer-Reviewed Original ResearchPolygenic risk scoresRisk scorePre-existing conditionsPhenome-wide association studyControls of European descentPhenotype risk scoreUK Biobank dataAmyotrophic lateral sclerosis riskRisk score distributionIncreased ALS riskInfluence of environmental exposuresExposure-related factorsCombined risk scoreUK BiobankAmyotrophic lateral sclerosisBaseline demographic covariatesBiobank dataPRS-CSALS riskAmyotrophic lateral sclerosis diagnosisDiagnosis 1Demographic covariatesAssociation studiesEuropean descentMethodsUtilizing dataMultiple metal exposures associate with higher amyotrophic lateral sclerosis risk and mortality independent of genetic risk and correlate to self-reported exposures: a case-control study
Jang D, Dou J, Koubek E, Teener S, Zhou L, Bakulski K, Mukherjee B, Batterman S, Feldman E, Goutman S. Multiple metal exposures associate with higher amyotrophic lateral sclerosis risk and mortality independent of genetic risk and correlate to self-reported exposures: a case-control study. Journal Of Neurology Neurosurgery & Psychiatry 2024, jnnp-2024-333978. PMID: 39107037, DOI: 10.1136/jnnp-2024-333978.Peer-Reviewed Original ResearchAmyotrophic lateral sclerosis riskEnvironmental risk scoreAssociated with ALS riskALS riskGenetic riskRisk scorePolygenic risk scoresSelf-reported exposureGenome-wide association studiesStudy investigated associationsCase-control studySingle-nucleotide polymorphismsAssociation studiesExposure mixturesControl participantsExposure sourcesRiskParticipantsAmyotrophic lateral sclerosisSurvival modelsScoresAssociationEnvironmental factorsUrine metalsUrine samples
2023
Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks
Fritsche L, Nam K, Du J, Kundu R, Salvatore M, Shi X, Lee S, Burgess S, Mukherjee B. Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks. PLOS Genetics 2023, 19: e1010907. PMID: 38113267, PMCID: PMC10763941, DOI: 10.1371/journal.pgen.1010907.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresMichigan Genomics InitiativeUK BiobankPre-existing conditionsPhenome-wide association studyAssociation studiesCohort-specific analysesPolygenic risk score approachUK Biobank cohortMeta-analysisIncreased risk of hospitalizationGenome-wide association studiesBody mass indexRisk of hospitalizationIdentified novel associationsRisk score approachCOVID-19 outcome dataCOVID-19 hospitalizationCOVID-19Mass indexRisk scoreBiobankCardiovascular conditionsCOVID-19 severityIncreased riskUsing Multi-Modal Electronic Health Record Data for the Development and Validation of Risk Prediction Models for Long COVID Using the Super Learner Algorithm
Jin W, Hao W, Shi X, Fritsche L, Salvatore M, Admon A, Friese C, Mukherjee B. Using Multi-Modal Electronic Health Record Data for the Development and Validation of Risk Prediction Models for Long COVID Using the Super Learner Algorithm. Journal Of Clinical Medicine 2023, 12: 7313. PMID: 38068365, PMCID: PMC10707399, DOI: 10.3390/jcm12237313.Peer-Reviewed Original ResearchComposite risk scoreRisk scoreElectronic health recordsAnalyses identified several factorsValidation of risk prediction modelsModerate discriminatory abilityRisk prediction modelPost-acute sequelae of COVID-19Health recordsCombined risk scorePost-acuteIdentification of individualsPrevention effortsSuper Learner algorithmMedical recordsHealthcare challengesPublic healthMedical phenotypesCOVID-19Increased riskPredictive factorsCOVID-19 infectionRecord DataPost-acute sequelaeHigh riskEnvironmental risk scores of persistent organic pollutants associate with higher ALS risk and shorter survival in a new Michigan case/control cohort
Goutman S, Boss J, Jang D, Mukherjee B, Richardson R, Batterman S, Feldman E. Environmental risk scores of persistent organic pollutants associate with higher ALS risk and shorter survival in a new Michigan case/control cohort. Journal Of Neurology Neurosurgery & Psychiatry 2023, 95: 241-248. PMID: 37758454, PMCID: PMC11060633, DOI: 10.1136/jnnp-2023-332121.Peer-Reviewed Original ResearchConceptsEnvironmental risk scoreAmyotrophic lateral sclerosis riskPersistent organic pollutantsALS riskInterquartile increaseHigher ALS riskAssociated with ALS riskModify disease riskOrganochlorine pesticidesAssociated with riskRisk reduction strategiesPersistent organic pollutant analysisIndividual persistent organic pollutantsPersistent organic pollutant mixturesHazard ratioDisease riskRisk scoreCase/control cohortEnvironmental exposuresControl participantsGenetic susceptibilityPolychlorinated biphenylsAlpha-hexachlorocyclohexaneOrganic pollutantsMortality rateCharacterizing and Predicting Post-Acute Sequelae of SARS CoV-2 Infection (PASC) in a Large Academic Medical Center in the US
Fritsche L, Jin W, Admon A, Mukherjee B. Characterizing and Predicting Post-Acute Sequelae of SARS CoV-2 Infection (PASC) in a Large Academic Medical Center in the US. Journal Of Clinical Medicine 2023, 12: 1328. PMID: 36835863, PMCID: PMC9967320, DOI: 10.3390/jcm12041328.Peer-Reviewed Original ResearchPost-Acute Sequelae of SARS CoV-2 infectionElectronic health record dataPhenotype risk scoreHealth record dataCase-control study designPhenome-wide scanAcademic medical centerRisk prediction modelPost-COVID-19Risk stratification approachStudy designRecord dataRisk scoreHistory of COVID-19Medical CenterCOVID-19Increased riskPre-COVID-19Post-acute sequelaePre-COVID-19 periodRiskPost-COVID-19 periodCohortStratification approachSARS CoV-2 infection
2022
The construction of cross-population polygenic risk scores using transfer learning
Zhao Z, Fritsche L, Smith J, Mukherjee B, Lee S. The construction of cross-population polygenic risk scores using transfer learning. American Journal Of Human Genetics 2022, 109: 1998-2008. PMID: 36240765, PMCID: PMC9674947, DOI: 10.1016/j.ajhg.2022.09.010.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresAncestry groupsTransferability of PRSPRS-CSPolygenic risk score methodsEuropean ancestry cohortsIndividuals of African ancestryIndividuals of South Asian ancestryNon-European ancestry groupsNon-European ancestrySouth Asian ancestryAssociation studiesDichotomous traitsSouth Asian sampleEuropean ancestryGenetic researchPRS modelAncestryAsian ancestryAfrican ancestryAfrican samplesUK BiobankRisk scoreAsian samplesPrediction of telomere length and telomere attrition using a genetic risk score: The multi-ethnic study of atherosclerosis (MESA)
Castro-Diehl C, Smith J, Zhao W, Wang X, Mukherjee B, Seeman T, Needham B. Prediction of telomere length and telomere attrition using a genetic risk score: The multi-ethnic study of atherosclerosis (MESA). Frontiers In Aging 2022, 3: 1021051. PMID: 36304436, PMCID: PMC9592760, DOI: 10.3389/fragi.2022.1021051.Peer-Reviewed Original ResearchMulti-Ethnic Study of AtherosclerosisGenetic risk scoreMulti-Ethnic StudyGenome-wide association studiesStudy of AtherosclerosisAssociated with TLEuropean ancestry genome-wide association studiesEuropean ancestryRisk scoreTL-associated genetic variantsShorter TLEuropean ancestry populationsPredictive of telomere lengthHispanic participantsRace/ethnic groupsLinear mixed effects modelsShorter telomere lengthMixed effects modelsAfrican AmericansTelomere attritionExam 1Association studiesRelative TLTelomere lengthT/S ratioExPRSweb: An online repository with polygenic risk scores for common health-related exposures
Ma Y, Patil S, Zhou X, Mukherjee B, Fritsche L. ExPRSweb: An online repository with polygenic risk scores for common health-related exposures. American Journal Of Human Genetics 2022, 109: 1742-1760. PMID: 36152628, PMCID: PMC9606385, DOI: 10.1016/j.ajhg.2022.09.001.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresChronic conditionsPhenome-wide association studyMichigan Genomics InitiativeRisk scoreAssociation studiesHealth-related exposuresGenome-wide association studiesUK BiobankGenetic risk factorsPRS methodsFollow-up studyRisk factorsComplex traitsGenome InitiativeGenetic modifiersBiobankInfluence of exposureEnvironmental variablesScoresLipid levelsExpRLifestyleSmokingOnline repositoryPolygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals
Fang Y, Fritsche L, Mukherjee B, Sen S, Richmond-Rakerd L. Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals. Biological Psychiatry 2022, 92: 923-931. PMID: 35965108, PMCID: PMC10712651, DOI: 10.1016/j.biopsych.2022.06.004.Peer-Reviewed Original ResearchConceptsPhenome-wide association studyPolygenic risk scoresMDD PRSHealth recordsRisk scoreAssociation studiesGenome-wide polygenic risk scoreAssociated with multiple medical conditionsMeasures of genetic riskMichigan Genomics InitiativePsychiatric traitsElectronic health recordsEuropean ancestry participantsMajor depressive disorderAssociated with tobacco use disorderTests of associationMultiple medical conditionsGenitourinary conditionsTobacco use disorderDisease-associated disabilityMolecular genetic toolsMolecular genetic discoveriesPsychiatric disease categoriesHealth outcomesSubstance-related disordersHigh pre-diagnosis inflammation-related risk score associated with decreased ovarian cancer survival
Brieger KK, Phung MT, Mukherjee B, Bakulski KM, Anton-Culver H, Bandera EV, Bowtell DDL, Cramer DW, DeFazio A, Doherty JA, Fereday S, Fortner RT, Gentry-Maharaj A, Goode EL, Goodman MT, Harris HR, Matsuo K, Menon U, Modugno F, Moysich KB, Qin B, Ramus SJ, Risch HA, Rossing MA, Schildkraut JM, Trabert B, Vierkant RA, Winham SJ, Wentzensen N, Wu AH, Ziogas A, Khoja L, Cho KR, McLean K, Richardson J, Grout B, Chase A, Deurloo CM, Odunsi K, Nelson BH, Brenton JD, Terry KL, Pharaoh P, Berchuck A, Hanley GE, Webb PM, Pike MC, Pearce CL. High pre-diagnosis inflammation-related risk score associated with decreased ovarian cancer survival. Cancer Epidemiology Biomarkers & Prevention 2022, 31: cebp.epi-21-0977-a.2021. PMID: 34789471, PMCID: PMC9281656, DOI: 10.1158/1055-9965.epi-21-0977.Peer-Reviewed Original ResearchConceptsOvarian cancer survivalCox proportional hazards modelProportional hazards modelCancer survivalOvarian cancerRisk scoreHazards modelNonsteroidal anti-inflammatory drug useAnti-inflammatory drug useMenopausal hormone therapy useEnvironmental tobacco smoke exposureInvasive epithelial ovarian cancerHormone therapy usePelvic inflammatory diseaseInflammation-related factorsPolycystic ovarian syndromeTobacco smoke exposureBody mass indexRisk of deathEpithelial ovarian cancerOvarian Cancer Association ConsortiumOvarian cancer diagnosisHigh death rateAspirin useOvarian syndromeMediation by hormone concentrations on the associations between repeated measures of phthalate mixture exposure and timing of delivery
Cathey A, Aung M, Watkins D, Rosario Z, Vélez Vega C, Alshawabkeh A, Cordero J, Mukherjee B, Meeker J. Mediation by hormone concentrations on the associations between repeated measures of phthalate mixture exposure and timing of delivery. Journal Of Exposure Science & Environmental Epidemiology 2022, 32: 374-383. PMID: 34987188, PMCID: PMC9124667, DOI: 10.1038/s41370-021-00408-3.Peer-Reviewed Original ResearchConceptsSpontaneous preterm birthPreterm birthCorticotropin-releasing hormoneFetal sexMale fetusesEarly deliveryHormone concentrationsAssociated with earlier deliveryPhthalate exposurePhthalate mixtureReduced gestational ageTime of deliveryEnvironmental risk scoreGestational ageFemale fetusesUrinary phthalatesSex-specific analysesEndocrine-disrupting capabilitiesReleasing hormoneSerum hormonesFetusesRisk scoreSusceptible to endocrine disruptionBirth cohortHormone
2021
On cross-ancestry cancer polygenic risk scores
Fritsche L, Ma Y, Zhang D, Salvatore M, Lee S, Zhou X, Mukherjee B. On cross-ancestry cancer polygenic risk scores. PLOS Genetics 2021, 17: e1009670. PMID: 34529658, PMCID: PMC8445431, DOI: 10.1371/journal.pgen.1009670.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresGenome-wide association studiesProstate cancer polygenic risk scoresPolygenic risk score distributionRecruitment of diverse participantsAncestry groupsPolygenic risk score methodsRisk scoreNon-genetic risk factorsElectronic health recordsBreast cancer casesHealth recordsUK BiobankGWAS effortsDisease risk assessmentCancer casesAssociation studiesGenetic dataEuropean ancestryPersonalized risk stratificationSummary statisticsRisk factorsAncestryDiverse participantsField of cancerPerformance of urine, blood, and integrated metal biomarkers in relation to birth outcomes in a mixture setting
Ashrap P, Watkins D, Mukherjee B, Rosario-Pabón Z, Vélez-Vega C, Alshawabkeh A, Cordero J, Meeker J. Performance of urine, blood, and integrated metal biomarkers in relation to birth outcomes in a mixture setting. Environmental Research 2021, 200: 111435. PMID: 34097892, PMCID: PMC8403638, DOI: 10.1016/j.envres.2021.111435.Peer-Reviewed Original ResearchConceptsEnvironmental risk scoreIntraclass correlation coefficientBirth outcomesBody mass indexWeighted quantile sumOdds ratio of preterm birthSecond-hand smoke exposurePre-pregnancy body mass indexOdds of preterm birthAssociated with birth outcomesIncreased odds of preterm birthPractice study designHealth effectsPreterm birthMaternal educationIncreased oddsOdds ratioSmoke exposureStudy designMaternal ageMass indexArea under the curveRisk scoreLogistic regressionConfidence intervals
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 associationsApplication of an analytical framework for multivariate mediation analysis of environmental data
Aung M, Song Y, Ferguson K, Cantonwine D, Zeng L, McElrath T, Pennathur S, Meeker J, Mukherjee B. Application of an analytical framework for multivariate mediation analysis of environmental data. Nature Communications 2020, 11: 5624. PMID: 33159049, PMCID: PMC7648785, DOI: 10.1038/s41467-020-19335-2.Peer-Reviewed Original ResearchUsing Environmental Risk Score to study a mixture of phenols and parabens in association with gestational age in a Puerto Rican cohort
Aker A, Yu Y, Park S, Mukherjee B, Meeker J. Using Environmental Risk Score to study a mixture of phenols and parabens in association with gestational age in a Puerto Rican cohort. ISEE Conference Abstracts 2020, 2020 DOI: 10.1289/isee.2020.virtual.o-os-569.Peer-Reviewed Original ResearchCancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks
Fritsche L, Patil S, Beesley L, VandeHaar P, Salvatore M, Ma Y, Peng R, Taliun D, Zhou X, Mukherjee B. Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. American Journal Of Human Genetics 2020, 107: 815-836. PMID: 32991828, PMCID: PMC7675001, DOI: 10.1016/j.ajhg.2020.08.025.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresGenome-wide association studiesMichigan Genomics InitiativeUK BiobankPopulation-based UK BiobankPolygenic risk score constructionPublished genome-wide association studiesLongitudinal biorepository effortAssociation studiesPredictive polygenic risk scoresRisk scoreNHGRI-EBI GWAS CatalogCancer traitsIndependent biobankMichigan MedicineGWAS CatalogGenome InitiativeBiobankScoresTraitsCancer researchOnline repositoryMichiganMedicineEvaluationUrinary metal mixtures and longitudinal changes in glucose homeostasis: The Study of Women’s Health Across the Nation (SWAN)
Wang X, Mukherjee B, Karvonen-Gutierrez C, Herman W, Batterman S, Harlow S, Park S. Urinary metal mixtures and longitudinal changes in glucose homeostasis: The Study of Women’s Health Across the Nation (SWAN). Environment International 2020, 145: 106109. PMID: 32927284, PMCID: PMC7577932, DOI: 10.1016/j.envint.2020.106109.Peer-Reviewed Original ResearchConceptsEnvironmental risk scoreStudy of Women's HealthWomen's HealthExposure to metal mixturesElevated diabetes riskAssociated with lower HOMA-IRUrinary metal mixtureLongitudinal changesMetal mixturesHOMA-BYears of follow-upRate of changeHOMA-IRAdaptive elastic-netStandard deviation increaseDiabetes riskLinear mixed effects modelsLower HOMA-IRRandom interceptMixed effects modelsRisk scoreAssociated with higher HOMA-IRMetal mixture effectsEpidemiological studiesDeviation increase