Featured Publications
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program
Stein MB, Levey DF, Cheng Z, Wendt FR, Harrington K, Pathak GA, Cho K, Quaden R, Radhakrishnan K, Girgenti MJ, Ho YA, Posner D, Aslan M, Duman RS, Zhao H, Polimanti R, Concato J, Gelernter J. Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program. Nature Genetics 2021, 53: 174-184. PMID: 33510476, PMCID: PMC7972521, DOI: 10.1038/s41588-020-00767-x.Peer-Reviewed Original ResearchConceptsGenome-wide association analysisAssociation analysisMillion Veteran ProgramGenomic structural equation modelingSignificant lociGenetic varianceGene expressionDrug repositioning candidatesBiological coherenceVeteran ProgramMultiple testing correctionSymptom phenotypeLociRepositioning candidatesAfrican ancestryHeritabilityPhenotypeAncestryExpressionPTSD symptom factorsRegionSubdomainsEnrichment
2023
Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders
Li W, Zhou H, Thygesen J, Heydtmann M, Smith I, Degenhardt F, Nöthen M, Morgan M, Kranzler H, Gelernter J, Bass N, McQuillin A. Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders. Psychiatric Genetics 2023, 33: 233-242. PMID: 37756443, PMCID: PMC10635348, DOI: 10.1097/ypg.0000000000000352.Peer-Reviewed Original ResearchMeSH KeywordsAntisocial Personality DisorderAnxiety DisordersGenome-Wide Association StudyHumansRisk FactorsConceptsAntisocial personality disorderAttention deficit hyperactivity disorderSubstance use disordersPosttraumatic stress disorderGenome-wide association studiesDeficit hyperactivity disorderDisorder diagnostic criteriaRisk factorsFrontal cortexDiagnostic criteriaUse disordersRisk score analysisAnterior cingulateAlcohol-dependent participantsPsychiatric conditionsSignificant associationBrain regionsPersonality disorder diagnostic criteriaStress disorderAnxiety disordersASPD criteriaHyperactivity disorderPolygenic risk score analysisPersonality disorderScore analysis
2022
Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder
Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R. Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder. Molecular Psychiatry 2022, 27: 2206-2215. PMID: 35181757, PMCID: PMC9133008, DOI: 10.1038/s41380-022-01469-y.Peer-Reviewed Original Research
2020
Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program
Levey DF, Gelernter J, Polimanti R, Zhou H, Cheng Z, Aslan M, Quaden R, Concato J, Radhakrishnan K, Bryois J, Sullivan PF, Stein M. Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program. American Journal Of Psychiatry 2020, 177: 223-232. PMID: 31906708, PMCID: PMC7869502, DOI: 10.1176/appi.ajp.2019.19030256.Peer-Reviewed Original ResearchConceptsNovel genome-wide significant associationsGene expressionGenome-wide significant signalsGenome-wide significant associationMillion Veteran ProgramWide association studyGenetic risk lociSignificant genetic correlationsGenetic risk mechanismsGenetic architectureGlobal regulatorChromosome 3Risk lociChromosome 6Chromosome 7Association studiesLargest GWASLarge biobanksGlobal regulationGenetic correlationsContinuous traitsVeteran ProgramGWASsLociPrevious GWASs
2019
Genome‐wide analyses of psychological resilience in U.S. Army soldiers
Stein MB, Choi KW, Jain S, Campbell‐Sills L, Chen C, Gelernter J, He F, Heeringa SG, Maihofer AX, Nievergelt C, Nock MK, Ripke S, Sun X, Kessler RC, Smoller JW, Ursano RJ. Genome‐wide analyses of psychological resilience in U.S. Army soldiers. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2019, 180: 310-319. PMID: 31081985, PMCID: PMC6551278, DOI: 10.1002/ajmg.b.32730.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant lociGenome-wide significant associationGenome-wide analysisCommon variant heritabilityGenome-wide significanceIntergenic regionSecond geneSignificant lociGenetic basisMolecular basisKinase 2Association studiesMember 5Genetic determinantsDoublecortin familyLociBiological basisPolygenic risk scoresNew avenues
2017
Genetic risk variants for social anxiety
Stein MB, Chen C, Jain S, Jensen KP, He F, Heeringa SG, Kessler RC, Maihofer A, Nock MK, Ripke S, Sun X, Thomas ML, Ursano RJ, Smoller JW, Gelernter J, Collaborators O. Genetic risk variants for social anxiety. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2017, 174: 120-131. PMID: 28224735, PMCID: PMC5325045, DOI: 10.1002/ajmg.b.32520.Peer-Reviewed Original Research
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 StatementsMeSH KeywordsAnimalsAnxiety DisordersBrainEpigenesis, GeneticEpigenomicsGenome-Wide Association StudyHumansResearchConceptsStress-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 disordersInter-observer reliability of DSM-5 substance use disorders
Denis CM, Gelernter J, Hart AB, Kranzler HR. Inter-observer reliability of DSM-5 substance use disorders. Drug And Alcohol Dependence 2015, 153: 229-235. PMID: 26048641, PMCID: PMC4509850, DOI: 10.1016/j.drugalcdep.2015.05.019.Peer-Reviewed Original ResearchConceptsDSM-5 SUD diagnosesSUD diagnosisDSM-IV diagnosisLifetime moodInter-observer reliabilityDSM-5 substance use disordersDisorder diagnosisCo-occurring SUDSubstance use disorder diagnosisSubstance use disordersDSM-5 criteriaSemi-Structured AssessmentAnxiety disorder diagnosisLifetime SUDMild severityUse disordersDrug dependenceSevere disordersDSM-IVPercent agreementDiagnosisAnxiety disordersLifetime alcoholLimited evidenceDisorders
2014
The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders
Jensen KP, Kranzler HR, Stein MB, Gelernter J. The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 175-183. PMID: 24436253, PMCID: PMC4174417, DOI: 10.1002/ajmg.b.32219.Peer-Reviewed Original ResearchConceptsGene-trait relationshipsGWAS-identified variantsRegulation of mRNAGWAS signalsComplex traitsTrait associationsTarget genesStudy signalsSNP associationsRisk genesFunctional variantsSNPsGenesAnxiety-related traitsGene SNPsTraitsMRNAMAP2K5MicroRNAsMajor psychiatric disordersVariantsSite informationMitogenRegulationPathway
2012
Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes
Webb BT, Guo AY, Maher BS, Zhao Z, van den Oord EJ, Kendler KS, Riley BP, Gillespie NA, Prescott CA, Middeldorp CM, Willemsen G, de Geus EJ, Hottenga JJ, Boomsma DI, Slagboom EP, Wray NR, Montgomery GW, Martin NG, Wright MJ, Heath AC, Madden PA, Gelernter J, Knowles JA, Hamilton SP, Weissman MM, Fyer AJ, Huezo-Diaz P, McGuffin P, Farmer A, Craig IW, Lewis C, Sham P, Crowe RR, Flint J, Hettema JM. Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes. European Journal Of Human Genetics 2012, 20: 1078-1084. PMID: 22473089, PMCID: PMC3449070, DOI: 10.1038/ejhg.2012.47.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanGenome-wide linkage dataGenome-wide association dataGenome-wide significanceAnxiety-related phenotypesGenomic regionsLinkage scanCM intervalChromosome 1Studies of neuroticismFalse discovery rate analysisChromosome 9Association dataLinkage dataPhenotypeMeta-analysis approachConsistent signalFDR thresholdGenetic factorsGenetic susceptibilitySuch hypothesesGenomeValuable approachGenesTraits
2010
The role of early life stress in development of the anterior limb of the internal capsule in nonhuman primates
Coplan JD, Abdallah CG, Tang CY, Mathew SJ, Martinez J, Hof PR, Smith EL, Dwork AJ, Perera TD, Pantol G, Carpenter D, Rosenblum LA, Shungu DC, Gelernter J, Kaffman A, Jackowski A, Kaufman J, Gorman JM. The role of early life stress in development of the anterior limb of the internal capsule in nonhuman primates. Neuroscience Letters 2010, 480: 93-96. PMID: 20541590, PMCID: PMC2951885, DOI: 10.1016/j.neulet.2010.06.012.Peer-Reviewed Original ResearchConceptsDeep brain stimulationInternal capsuleDiffusion tensor imagingWhite matterFractional anisotropyAnterior limbNonhuman primate modelWhite matter impairmentAdult male bonnet macaquesOccipital white matterEarly life stressWhite matter tract integrityWhite matter integrityParental verbal abuseMother-infant attachmentPrimate modelPosterior limbBrain stimulationTract integrityTensor imagingAnxiety disordersAnxiety scoresMale bonnet macaquesLife stressSignificant reduction
2009
NPY moderates the relation between hurricane exposure and generalized anxiety disorder in an epidemiologic sample of hurricane‐exposed adults
Amstadter AB, Koenen KC, Ruggiero KJ, Acierno R, Galea S, Kilpatrick DG, Gelernter J. NPY moderates the relation between hurricane exposure and generalized anxiety disorder in an epidemiologic sample of hurricane‐exposed adults. Depression And Anxiety 2009, 27: 270-275. PMID: 20037921, PMCID: PMC2879267, DOI: 10.1002/da.20648.Peer-Reviewed Original ResearchConceptsGeneralized anxiety disorderNeuropeptide YEpidemiologic sampleGAD diagnosisHurricane exposureAnxiety disordersRandom digit dial proceduresHigh hurricane exposureFlorida Hurricane StudyFunctional single nucleotide polymorphismsNPY rs16147NPY expressionOutcome measuresGene-environment interactionsStressor exposureBuccal DNA samplesSingle nucleotide polymorphismsGAD symptomsRs16147AdultsStructured interviewsExposureDiagnosisRiskDisordersSubtypes of major depression in substance dependence
Niciu MJ, Chan G, Gelernter J, Arias AJ, Douglas K, Weiss R, Anton RF, Farrer L, Cubells JF, Kranzler HR. Subtypes of major depression in substance dependence. Addiction 2009, 104: 1700-1709. PMID: 19681804, PMCID: PMC2980795, DOI: 10.1111/j.1360-0443.2009.02672.x.Peer-Reviewed Original ResearchMeSH KeywordsAcademic Medical CentersAdolescentAdultAge FactorsAnxiety DisordersBlack or African AmericanComorbidityData Interpretation, StatisticalDepressive Disorder, MajorFemaleHispanic or LatinoHumansInterview, PsychologicalLogistic ModelsMaleRecurrenceSocioeconomic FactorsSubstance-Related DisordersSuicide, AttemptedWhite PeopleYoung AdultConceptsMajor depressive episodeSubstance dependenceMDE subtypesDrug dependenceRelated clinical featuresPotential therapeutic implicationsSubstance use disordersAcademic medical centerGreater psychiatric severitySemi-Structured AssessmentClinical featuresDepressive episodeMajor depressionMedical CenterSecondary data analysisDepressive symptomsDiagnostic criteriaPsychiatric severityTherapeutic implicationsUse disordersSubtypesAnxiety disordersPsychiatric measuresCase-control genetic studyCommunity recruitmentAdverse childhood events as risk factors for substance dependence: Partial mediation by mood and anxiety disorders
Douglas KR, Chan G, Gelernter J, Arias AJ, Anton RF, Weiss RD, Brady K, Poling J, Farrer L, Kranzler HR. Adverse childhood events as risk factors for substance dependence: Partial mediation by mood and anxiety disorders. Addictive Behaviors 2009, 35: 7-13. PMID: 19720467, PMCID: PMC2763992, DOI: 10.1016/j.addbeh.2009.07.004.Peer-Reviewed Original ResearchConceptsAdverse childhood eventsSD riskSubstance dependenceAnxiety disordersRisk factorsNegative health outcomesSemi-Structured AssessmentChildhood eventsOpioid dependenceSD diagnosisLifetime moodEffective treatmentLifetime diagnosisFirst onsetHealth outcomesDrug dependenceEarly life experiencesDisordersChildhood abuseRiskMoodDiagnosisAlcoholismCocaine
2008
RGS2 and generalized anxiety disorder in an epidemiologic sample of hurricane‐exposed adults
Koenen KC, Amstadter AB, Ruggiero KJ, Acierno R, Galea S, Kilpatrick DG, Gelernter J. RGS2 and generalized anxiety disorder in an epidemiologic sample of hurricane‐exposed adults. Depression And Anxiety 2008, 26: 309-315. PMID: 18833580, PMCID: PMC2666784, DOI: 10.1002/da.20528.Peer-Reviewed Original ResearchConceptsEpidemiologic sampleC alleleAnxiety disordersRisk of GADRandom digit dial proceduresSingle nucleotide polymorphismsLogistic regression analysisPanic disorder patientsDSM-IV diagnosisGeneralized anxiety disorderHurricane exposureFlorida Hurricane StudyRGS2 geneSocial supportStressful life eventsHigh prevalenceOutcome measuresDisorder patientsPanic disorderBuccal DNA samplesRelevant polymorphismsDisordersGADAnxious behaviorGAD symptomsInfluence of RGS2 on Anxiety-Related Temperament, Personality, and Brain Function
Smoller JW, Paulus MP, Fagerness JA, Purcell S, Yamaki LH, Hirshfeld-Becker D, Biederman J, Rosenbaum JF, Gelernter J, Stein MB. Influence of RGS2 on Anxiety-Related Temperament, Personality, and Brain Function. JAMA Psychiatry 2008, 65: 298-308. PMID: 18316676, DOI: 10.1001/archgenpsychiatry.2007.48.Peer-Reviewed Original ResearchConceptsFunctional magnetic resonanceHuman anxiety disordersAnxiety disordersEmotional facesEmotion processingChildhood temperamentLaboratory-based behavioral measuresSocial anxiety disorderBrain functionChildhood behavioral inhibitionSelf-report measuresInsular cortex activationIndependent samplesLaboratory-based assessmentsTemperamental precursorsBehavioral inhibitionBehavioral measuresAdult personalityCortex activationLimbic activationAnxiety phenotypeTemperamentIntermediate phenotypesAnxietyAnxiety behavior
2006
Serotonin transporter gene promoter polymorphism predicts SSRI response in generalized social anxiety disorder
Stein MB, Seedat S, Gelernter J. Serotonin transporter gene promoter polymorphism predicts SSRI response in generalized social anxiety disorder. Psychopharmacology 2006, 187: 68-72. PMID: 16525856, DOI: 10.1007/s00213-006-0349-8.Peer-Reviewed Original Research
1998
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Cubells J, van Kammen D, Kelley M, Anderson G, O’Connor D, Price LH, Malison R, Rao P, Kobayashi K, Nagatsu T, Gelernter J. Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation. Human Genetics 1998, 102: 533-540. PMID: 9654201, DOI: 10.1007/s004390050736.Peer-Reviewed Original Research