Featured Publications
Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans
Gelernter J, Sun N, Polimanti R, Pietrzak R, Levey DF, Bryois J, Lu Q, Hu Y, Li B, Radhakrishnan K, Aslan M, Cheung KH, Li Y, Rajeevan N, Sayward F, Harrington K, Chen Q, Cho K, Pyarajan S, Sullivan PF, Quaden R, Shi Y, Hunter-Zinck H, Gaziano JM, Concato J, Zhao H, Stein MB. Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans. Nature Neuroscience 2019, 22: 1394-1401. PMID: 31358989, PMCID: PMC6953633, DOI: 10.1038/s41593-019-0447-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesHigh linkage disequilibrium regionLinkage disequilibrium regionWide association studyDisequilibrium regionBioinformatics analysisTranscriptomic profilesMillion Veteran ProgramChromosome 17Genetic risk factorsNew insightsUK Biobank dataReexperiencing of traumaStriatal medium spiny neuronsVeteran ProgramSignificant regionsCAMKVEuropean AmericansBiobank dataMedium spiny neuronsTCF4BiologyKANSL1African American cohort
2021
Dissecting the heterogeneity of posttraumatic stress disorder: differences in polygenic risk, stress exposures, and course of PTSD subtypes
Campbell-Sills L, Sun X, Choi KW, He F, Ursano RJ, Kessler RC, Levey DF, Smoller JW, Gelernter J, Jain S, Stein MB. Dissecting the heterogeneity of posttraumatic stress disorder: differences in polygenic risk, stress exposures, and course of PTSD subtypes. Psychological Medicine 2021, 52: 3646-3654. PMID: 33947479, PMCID: PMC9772910, DOI: 10.1017/s0033291721000428.Peer-Reviewed Original ResearchPosttraumatic stress disorderPersistence of PTSDMajor depressionPTSD subtypesStress disorderCo-occurring major depressionStress exposureMonths postdeploymentCourse of PTSDPolygenic riskProbable posttraumatic stress disorderU.S. Army Brigade Combat TeamHigh polygenic riskConcurrent mental disordersGenetic risk factorsTrauma-related factorsHigh symptom profileLeast comorbidityProspective studyRisk factorsDepressive disorderTreatment responsePolygenic risk scoresRisk scoreComorbidities
2019
Genetic associations with suicide attempt severity and genetic overlap with major depression
Levey DF, Polimanti R, Cheng Z, Zhou H, Nuñez YZ, Jain S, He F, Sun X, Ursano RJ, Kessler RC, Smoller JW, Stein MB, Kranzler HR, Gelernter J. Genetic associations with suicide attempt severity and genetic overlap with major depression. Translational Psychiatry 2019, 9: 22. PMID: 30655502, PMCID: PMC6336846, DOI: 10.1038/s41398-018-0340-2.Peer-Reviewed Original ResearchConceptsGWS associationsGenome-wide significant signalsCircadian clock regulationWide association studyGenetic overlapCatabolism of tyrosineClock regulationFirst GWASSignificant genetic overlapDiscovery GWASChromosome 12Large GWASMolecular mechanismsAssociation studiesChromosome 15Chromosome 18Genetic influencesDiscovery sampleGenetic associationSuicide attempt severityReplication analysisGWASAnaerobic energy productionGenetic risk factorsPolygenic risk scores
2018
Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2
Smith AH, Ovesen PL, Skeldal S, Yeo S, Jensen KP, Olsen D, Diazgranados N, Zhao H, Farrer LA, Goldman D, Glerup S, Kranzler HR, Nykjær A, Gelernter J. Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2. Alcohol Clinical And Experimental Research 2018, 42: 2337-2348. PMID: 30252935, PMCID: PMC6317871, DOI: 10.1111/acer.13890.Peer-Reviewed Original ResearchConceptsAlcohol withdrawalEpigenomic data setsGenome-wide association studiesWide significant findingsLife-threatening seizuresAlcohol withdrawal symptomsTop association signalsTissue-specific activityNeural lineage cellsGenetic risk factorsHarmful alcohol useAssociation signalsRegulatory elementsBioinformatics analysisStress hormone levelsAlcohol cessationChromosome 4Neurotrophic factorWithdrawal symptomsRisk factorsEthanol exposureHormone levelsAssociation studiesNervous systemAdditional genotyping
2017
Genomewide association studies of suicide attempts in US soldiers
Stein MB, Ware EB, Mitchell C, Chen C, Borja S, Cai T, Dempsey CL, Fullerton CS, Gelernter J, Heeringa SG, Jain S, Kessler RC, Naifeh JA, Nock MK, Ripke S, Sun X, Beckham JC, Kimbrel NA, VA Mid‐Atlantic Mental Illness Research E, Ursano RJ, Smoller JW. Genomewide association studies of suicide attempts in US soldiers. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2017, 174: 786-797. PMID: 28902444, PMCID: PMC5685938, DOI: 10.1002/ajmg.b.32594.Peer-Reviewed Original ResearchConceptsSuicide attemptsPlausible susceptibility geneGlobal public health problemPeak SNPPolygenic risk score analysisPublic health problemGenomewide association studiesSignificant SNPsSignificant lociGenetic risk factorsLogistic regression modelsUS military personnelAncestral groupsAssociation studiesGenomewide associationRecent suicide attemptersSusceptibility genesRisk factorsAdrenal cortexCase-control sampleRisk score analysisAncestral subgroupsLarger sample sizeBipolar disorderHealth problems
2016
Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers
Stein MB, Chen CY, Ursano RJ, Cai T, Gelernter J, Heeringa SG, Jain S, Jensen KP, Maihofer AX, Mitchell C, Nievergelt CM, Nock MK, Neale BM, Polimanti R, Ripke S, Sun X, Thomas ML, Wang Q, Ware EB, Borja S, Kessler RC, Smoller JW. Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers. JAMA Psychiatry 2016, 73: 695-704. PMID: 27167565, PMCID: PMC4936936, DOI: 10.1001/jamapsychiatry.2016.0350.Peer-Reviewed Original ResearchMeSH KeywordsAdultCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 19Chromosomes, Human, Pair 5Cohort StudiesFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMilitary PersonnelPolymorphism, Single NucleotideStress Disorders, Post-TraumaticYoung AdultConceptsPosttraumatic stress disorderTrauma-exposed controlsNew Soldier StudyRheumatoid arthritisStress disorderLifetime posttraumatic stress disorderSerious public health concernUnique participantsImmune-related disordersCumulative trauma exposureGenetic risk factorsPublic health concernLogistic regression modelsUS Army soldiersGenome-wide association studiesInflammatory disordersLifetime riskRisk factorsMAIN OUTCOMEPrimary analysisPost Deployment StudyAssociation studiesControl individualsMental disordersSignificant associationGenome-wide Association Study of Cannabis Dependence Severity, Novel Risk Variants, and Shared Genetic Risks
Sherva R, Wang Q, Kranzler H, Zhao H, Koesterer R, Herman A, Farrer LA, Gelernter J. Genome-wide Association Study of Cannabis Dependence Severity, Novel Risk Variants, and Shared Genetic Risks. JAMA Psychiatry 2016, 73: 472. PMID: 27028160, PMCID: PMC4974817, DOI: 10.1001/jamapsychiatry.2016.0036.Peer-Reviewed Original ResearchConceptsCannabis dependenceNeuronal calcium homeostasisGenetic factorsMajor depressive disorderSushi multiple domains-1 (CSMD1) geneSubstance abuse treatment centersSpecific genetic risk factorsGenetic risk factorsShared genetic riskPotential genetic factorsCentral nervous system developmentCriterion countsCannabis dependence severityDomain 1 geneCAD riskMean ageRisk factorsDepressive disorderNervous system developmentMajor depressionLarge cohortMAIN OUTCOMEGenome-wide association studiesTreatment centersCalcium homeostasis
2015
RDoC and translational perspectives on the genetics of trauma‐related psychiatric disorders
Montalvo-Ortiz JL, Gelernter J, Hudziak J, Kaufman J. RDoC and translational perspectives on the genetics of trauma‐related psychiatric disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2015, 171: 81-91. PMID: 26592203, PMCID: PMC4754782, DOI: 10.1002/ajmg.b.32395.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsStress-related psychiatric disordersPsychiatric disordersTrauma-related psychiatric disordersAdverse early life experiencesSubstance use disordersGenetic risk factorsKey brain structuresDistinct neural circuitsDistinct psychiatric disordersSubstance use problemsClinical syndromeRisk factorsHigh riskPsychiatric problemsUse disordersAdverse early experiencesTranslational studiesGenome-wide association studiesClinical phenotypeNeural circuitsBrain structuresResearch Domain Criteria frameworkCircuitry developmentEarly life experiencesAnxiety disorders
2014
Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J. Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence. Neuropsychopharmacology 2014, 40: 1016-1026. PMID: 25345593, PMCID: PMC4330517, DOI: 10.1038/npp.2014.290.Peer-Reviewed Original ResearchMeSH KeywordsAlpha CateninChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18DNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLeukocyte Common AntigensMaleMeta-Analysis as TopicOpioid-Related DisordersReceptor-Like Protein Tyrosine Phosphatases, Class 2ConceptsCopy number variationsAssociation studiesNumber variationsGenome-wide association studiesWide association studyUnique copy number variationsCommon copy number variationFirst GWASHarbor genesMissing heritabilityHuman genomeGenomic variationBiological importanceGenomeGenesGenetic risk factorsHeritabilitySubstance dependence riskGWASDuplicationDeletionReplicationPolymorphismVariationSmall proportion
2006
Apolipoprotein E ɛ4 Allele Increases Risk for Psychotic Symptoms in Alzheimer's Disease
Zdanys KF, Kleiman TG, MacAvoy MG, Black BT, Rightmer TE, Grey M, Garman KS, Tampi RR, Gelernter J, van Dyck CH. Apolipoprotein E ɛ4 Allele Increases Risk for Psychotic Symptoms in Alzheimer's Disease. Neuropsychopharmacology 2006, 32: 171-179. PMID: 16841077, DOI: 10.1038/sj.npp.1301148.Peer-Reviewed Original ResearchConceptsAD patientsPsychotic symptomsAlzheimer's diseaseBehavioral symptomsNeuropsychiatric InventoryApolipoprotein EMultiple logistic regression modelSporadic Alzheimer's diseaseGenetic risk factorsSevere-stage Alzheimer's diseaseLogistic regression modelsDifferent risk profilesDementia progressesRisk factorsIncrease riskBehavioral disturbancesPatientsDisease severitySymptomsSignificant psychosisRisk profileGreater riskApoEExploratory analysisDiseaseApolipoprotein E ε4 Allele Is Unrelated to Cognitive or Functional Decline in Alzheimer’s Disease: Retrospective and Prospective Analysis
Kleiman T, Zdanys K, Black B, Rightmer T, Grey M, Garman K, MacAvoy M, Gelernter J, van Dyck C. Apolipoprotein E ε4 Allele Is Unrelated to Cognitive or Functional Decline in Alzheimer’s Disease: Retrospective and Prospective Analysis. Dementia And Geriatric Cognitive Disorders 2006, 22: 73-82. PMID: 16699282, DOI: 10.1159/000093316.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseFunctional declineProspective analysisAD patientsEpsilon4 doseMultiple subsequent time pointsApolipoprotein E (APOE) ε4 alleleGenotype groupsApolipoprotein E epsilon4 alleleDuration of symptomsAD patient samplesGenetic risk factorsSubsequent time pointsTests of cognitionRisk factorsAPOE epsilon4Disease onsetDisease progressionEpsilon4 alleleFunctional impairmentRetrospective analysisΕ4 alleleDaily functionPatient samplesFunctional measures
2005
Apolipoprotein E epsilon4 is associated with atrophy of the amygdala in Alzheimer's disease
Basso M, Gelernter J, Yang J, MacAvoy MG, Varma P, Bronen RA, van Dyck CH. Apolipoprotein E epsilon4 is associated with atrophy of the amygdala in Alzheimer's disease. Neurobiology Of Aging 2005, 27: 1416-1424. PMID: 16182410, DOI: 10.1016/j.neurobiolaging.2005.08.002.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseAD patientsAPOE epsilon4AD groupImportant genetic risk factorApolipoprotein E epsilon4Regional brain atrophyAPOE epsilon4 alleleElderly control subjectsNormal elderly control subjectsGenetic risk factorsAmygdaloid volumesBrain atrophyControl subjectsEpsilon4 carriersRisk factorsEpsilon4 alleleHippocampal volumeEpsilon4 doseAnalysis of covarianceDisease severityPatientsEpsilon4AmygdalaAtrophy