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
2022
Body mass index associates with amyotrophic lateral sclerosis survival and metabolomic profiles
Goutman S, Boss J, Iyer G, Habra H, Savelieff M, Karnovsky A, Mukherjee B, Feldman E. Body mass index associates with amyotrophic lateral sclerosis survival and metabolomic profiles. Muscle & Nerve 2022, 67: 208-216. PMID: 36321729, PMCID: PMC9957813, DOI: 10.1002/mus.27744.Peer-Reviewed Original ResearchConceptsBody mass indexBody mass index trajectoriesMetabolomic profilesAmyotrophic lateral sclerosis survivalAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis participantsMass indexBody mass index lossBody mass index trajectory groupsSelf-reported body heightParticipants lost weightShorter survivalProspective cohortSurvival associationsStudy entryMetabolomic networksGeneralized estimating equationsSymptom onsetBMI trendsWeight lossSurvivalBile acidsBody heightTrajectory groupsPotential mechanisms
2019
High plasma concentrations of organic pollutants negatively impact survival in amyotrophic lateral sclerosis
Goutman S, Boss J, Patterson A, Mukherjee B, Batterman S, Feldman E. High plasma concentrations of organic pollutants negatively impact survival in amyotrophic lateral sclerosis. Journal Of Neurology Neurosurgery & Psychiatry 2019, 90: 907. PMID: 30760645, PMCID: PMC6625908, DOI: 10.1136/jnnp-2018-319785.Peer-Reviewed Original ResearchConceptsPersistent organic pollutantsPolychlorinated biphenylsHigh concentrations of persistent organic pollutantsAmyotrophic lateral sclerosisConcentrations of persistent organic pollutantsEffects of persistent organic pollutantsMeasurement of persistent organic pollutantsHazard rate of mortalitySymptom onset to diagnosisMedian diagnostic ageNegatively impacts survivalLowest quartileIndependent of ageOrganic pollutantsSummary measuresMedian timeClinical featuresMedical recordsRate of mortalityDiagnostic ageEnvironmental exposuresBulbar onsetALS diseaseCervical onsetPlasma concentrations
2018
Model-Based and Model-Free Techniques for Amyotrophic Lateral Sclerosis Diagnostic Prediction and Patient Clustering
Tang M, Gao C, Goutman S, Kalinin A, Mukherjee B, Guan Y, Dinov I. Model-Based and Model-Free Techniques for Amyotrophic Lateral Sclerosis Diagnostic Prediction and Patient Clustering. Neuroinformatics 2018, 17: 407-421. PMID: 30460455, PMCID: PMC6527505, DOI: 10.1007/s12021-018-9406-9.Peer-Reviewed Original ResearchConceptsAmyotrophic Lateral Sclerosis Functional Rating ScaleClusters of participantsModel-basedAmyotrophic lateral sclerosisRating ScaleComputable phenotypeFunctional Rating ScaleSets of featuresUnsupervised clusteringUnsupervised machine learning methodsClinical decision supportMachine learning methods