2020
Multivariate genome-wide analysis of education, socioeconomic status and brain phenome
Wendt FR, Pathak GA, Lencz T, Krystal JH, Gelernter J, Polimanti R. Multivariate genome-wide analysis of education, socioeconomic status and brain phenome. Nature Human Behaviour 2020, 5: 482-496. PMID: 33349686, PMCID: PMC8068566, DOI: 10.1038/s41562-020-00980-y.Peer-Reviewed Original ResearchConceptsPsychosocial factorsSocioeconomic statusPsychiatric disordersBipolar disorderGenetic riskNeuronal cell typesMajor depressionTourette syndromeBrain morphologyDisordersImaging phenotypesCell typesRisky behaviorsPsychopathologyGenetic overlapRiskGenetic discoveriesPsychiatric traitsStatusSyndrome
2019
Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans
Yang BZ, Zhou H, Cheng Z, Kranzler HR, Gelernter J. Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. Scientific Reports 2019, 9: 18070. PMID: 31792237, PMCID: PMC6889277, DOI: 10.1038/s41598-019-53560-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnalgesics, OpioidBlack or African AmericanBrainCalcium-Binding ProteinsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedOpioid-Related DisordersPolymorphism, Single NucleotideReceptors, G-Protein-CoupledReceptors, Kainic AcidSex FactorsWhite PeopleConceptsOpioid dependenceOD riskSex-different effectsSex differencesInferior olivary nucleusDSM-IV diagnosisDimorphic riskSubstantia nigraAA menOlivary nucleusFrontal cortexEuropean-American subjectsADGRV1Further studiesRiskAfrican AmericansGenetic variantsDisease enrichment analysisBrainSex interactionNominal significanceMenFirst studyPutamenLung
2018
Adverse Childhood Experiences, Epigenetic Measures, and Obesity in Youth
Kaufman J, Montalvo-Ortiz JL, Holbrook H, O'Loughlin K, Orr C, Kearney C, Yang BZ, Wang T, Zhao H, Althoff R, Garavan H, Gelernter J, Hudziak J. Adverse Childhood Experiences, Epigenetic Measures, and Obesity in Youth. The Journal Of Pediatrics 2018, 202: 150-156.e3. PMID: 30177354, PMCID: PMC6513669, DOI: 10.1016/j.jpeds.2018.06.051.Peer-Reviewed Original ResearchConceptsBody mass indexAdverse childhood experiencesMass indexIndices of obesityAssessment of obesityChildhood experiencesFuture longitudinal studiesObesity riskHealth burdenPsychiatric outcomesSecond cohortObesityNovel interventionsCohortEarly adversityCross-sectional measuresEpigenetic predictorsLongitudinal studySaliva DNAEpigenetic measuresWhole genome testingDiscovery sampleReplication sampleChildrenRisk
2015
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
Schwantes-An TH, Zhang J, Chen LS, Hartz SM, Culverhouse RC, Chen X, Coon H, Frank J, Kamens HM, Konte B, Kovanen L, Latvala A, Legrand LN, Maher BS, Melroy WE, Nelson EC, Reid MW, Robinson JD, Shen PH, Yang BZ, Andrews JA, Aveyard P, Beltcheva O, Brown SA, Cannon DS, Cichon S, Corley RP, Dahmen N, Degenhardt L, Foroud T, Gaebel W, Giegling I, Glatt SJ, Grucza RA, Hardin J, Hartmann AM, Heath AC, Herms S, Hodgkinson CA, Hoffmann P, Hops H, Huizinga D, Ising M, Johnson EO, Johnstone E, Kaneva RP, Kendler KS, Kiefer F, Kranzler HR, Krauter KS, Levran O, Lucae S, Lynskey MT, Maier W, Mann K, Martin NG, Mattheisen M, Montgomery GW, Müller-Myhsok B, Murphy MF, Neale MC, Nikolov MA, Nishita D, Nöthen MM, Nurnberger J, Partonen T, Pergadia ML, Reynolds M, Ridinger M, Rose RJ, Rouvinen-Lagerström N, Scherbaum N, Schmäl C, Soyka M, Stallings MC, Steffens M, Treutlein J, Tsuang M, Wall TL, Wodarz N, Yuferov V, Zill P, Bergen AW, Chen J, Cinciripini PM, Edenberg HJ, Ehringer MA, Ferrell RE, Gelernter J, Goldman D, Hewitt JK, Hopfer CJ, Iacono WG, Kaprio J, Kreek MJ, Kremensky IM, Madden PA, McGue M, Munafò MR, Philibert RA, Rietschel M, Roy A, Rujescu D, Saarikoski ST, Swan GE, Todorov AA, Vanyukov MM, Weiss RB, Bierut LJ, Saccone NL. Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts. Behavior Genetics 2015, 46: 151-169. PMID: 26392368, PMCID: PMC4752855, DOI: 10.1007/s10519-015-9737-3.Peer-Reviewed Original ResearchConceptsSubstance dependenceModest protective effectDSM-IV alcoholOpioid receptor geneLight smokingProtective effectNicotine dependenceAddiction liabilityDifferent addictive substancesG alleleMeta-AnalysisCocaine dependenceRs1799971Addictive substancesHuman genetic studiesReceptor genePotential functional significanceEuropean ancestry cohortsOPRM1Substance dependence riskSimilar effectsEuropean ancestry subjectsFunctional significanceAddictive behaviorsRiskThe Research Domain Criteria (RDoC) Project and Studies of Risk and Resilience in Maltreated Children
Kaufman J, Gelernter J, Hudziak JJ, Tyrka AR, Coplan JD. The Research Domain Criteria (RDoC) Project and Studies of Risk and Resilience in Maltreated Children. Journal Of The American Academy Of Child & Adolescent Psychiatry 2015, 54: 617-625. PMID: 26210330, PMCID: PMC4515569, DOI: 10.1016/j.jaac.2015.06.001.Peer-Reviewed Original ResearchConceptsResearch Domain Criteria projectNeural circuitsSubset of patientsRelevant animal modelsOnset of psychopathologyStress-related mechanismsClinical studiesStandard interventionAnimal modelsClinical implicationsMental disordersMaltreated childrenNeural circuitryTranslational researchPrecision medicinePsychiatric nomenclaturePatientsChildrenRDoC projectRDoC frameworkNeurobiological measuresRDoC initiativeRiskUltimate long-term goalStudy of risk
2013
Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence
Xie P, Kranzler HR, Krystal JH, Farrer LA, Zhao H, Gelernter J. Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence. Addiction Biology 2013, 19: 955-964. PMID: 23855403, PMCID: PMC3815683, DOI: 10.1111/adb.12072.Peer-Reviewed Original ResearchConceptsOpioid dependenceSubstance dependenceRare variantsN-methyl-D-aspartate (NMDA) glutamate receptorsCo-occurring alcohol dependenceHealthy control subjectsControl subjectsNMDA systemOpioid abuseGlutamate receptorsSchizophrenia risk genesSD riskAlcohol dependenceSignificant associationCocaine dependenceAdditional subjectsOD riskRisk genesDISC1African AmericansFirst demonstrationCommon variantsRiskSubjectsMinor allele frequency
2012
Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index
Wang F, Gelernter J, Kranzler HR, Zhang H. Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index. PLOS ONE 2012, 7: e45300. PMID: 23028917, PMCID: PMC3444488, DOI: 10.1371/journal.pone.0045300.Peer-Reviewed Original ResearchConceptsBody mass indexSubstance dependenceMass indexExact testRare variantsAfrican AmericansNormal weight groupCommon variantsFisher's exact testProopiomelanocortin geneObese groupObese subjectsExonic variantsMelanocortin peptidesEuropean AmericansLogistic regressionCommon polymorphismsOverweightRare exonic variantsVariants AssociatedPopulation-specific mannerRiskAssociationObesityGroup
2011
Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males
Xie P, Kranzler HR, Zhang H, Oslin D, Anton RF, Farrer LA, Gelernter J. Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males. Neuropsychopharmacology 2011, 37: 669-676. PMID: 22012472, PMCID: PMC3260970, DOI: 10.1038/npp.2011.240.Peer-Reviewed Original ResearchConceptsChildhood adversityRs16969968 genotypeND riskSex differencesNicotinic acetylcholine receptor genesAcetylcholine receptor genesPotential sex differencesNicotine dependence riskFagerstrom TestNicotine intakeSmoking riskIncrease riskNicotine dependenceRodent modelsReceptor genotypeND scoresEarly life experiencesEuropean AmericansReceptor geneWomenRiskGene × environment effectsMen
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 interviewsExposureDiagnosisRiskDisordersVariation in RGS2 is Associated with Suicidal Ideation in an Epidemiological Study of Adults Exposed to the 2004 Florida Hurricanes
Amstadter AB, Koenen KC, Ruggiero KJ, Acierno R, Galea S, Kilpatrick DG, Gelernter J. Variation in RGS2 is Associated with Suicidal Ideation in an Epidemiological Study of Adults Exposed to the 2004 Florida Hurricanes. Archives Of Suicide Research 2009, 13: 349-357. PMID: 19813112, PMCID: PMC2760049, DOI: 10.1080/13811110903266541.Peer-Reviewed Original ResearchConceptsSuicidal ideationCurrent suicidal ideationEpidemiologic sampleRandom digit dial proceduresSingle nucleotide polymorphismsEpidemiological studiesBuccal DNA samplesFlorida hurricanesCurrent ideationIdeationAdultsHurricane exposureRs4606RGS2Social supportNucleotide polymorphismsRiskDNA samplesParticipantsSymptomsAdverse 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 abuseRiskMoodDiagnosisAlcoholismCocainePopulation admixture modulates risk for alcohol dependence
Zuo L, Luo X, Listman JB, Kranzler HR, Wang S, Anton RF, Blumberg HP, Stein MB, Pearlson GD, Covault J, Charney DS, van Kammen DP, Price LH, Lappalainen J, Cramer J, Krystal JH, Gelernter J. Population admixture modulates risk for alcohol dependence. Human Genetics 2009, 125: 605-613. PMID: 19306106, PMCID: PMC2777998, DOI: 10.1007/s00439-009-0647-4.Peer-Reviewed Original Research
2008
MAOA Genotype, Maltreatment, and Aggressive Behavior: The Changing Impact of Genotype at Varying Levels of Trauma
Weder N, Yang BZ, Douglas-Palumberi H, Massey J, Krystal JH, Gelernter J, Kaufman J. MAOA Genotype, Maltreatment, and Aggressive Behavior: The Changing Impact of Genotype at Varying Levels of Trauma. Biological Psychiatry 2008, 65: 417-424. PMID: 18996506, PMCID: PMC3816252, DOI: 10.1016/j.biopsych.2008.09.013.Peer-Reviewed Original ResearchConceptsAggressive behaviorMAOA genotypeProportion scoreChildhood adversityTrauma exposureDiverse cohortBasis of genotypeTraumaHigher aggression scoresChildrenDNA specimensStandard research instrumentsAntisocial behaviorLow base ratesCareAcute crisisExposureAggression scoresScoresSignificant interactionRiskAncestry informative markersParent careGenotypesModerate levels
2007
The Serotonin Transporter Genotype and Social Support and Moderation of Posttraumatic Stress Disorder and Depression in Hurricane-Exposed Adults
Kilpatrick DG, Koenen KC, Ruggiero KJ, Acierno R, Galea S, Resnick HS, Roitzsch J, Boyle J, Gelernter J. The Serotonin Transporter Genotype and Social Support and Moderation of Posttraumatic Stress Disorder and Depression in Hurricane-Exposed Adults. American Journal Of Psychiatry 2007, 164: 1693-1699. PMID: 17974934, DOI: 10.1176/appi.ajp.2007.06122007.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultDepressive Disorder, MajorDiagnostic and Statistical Manual of Mental DisordersDisastersFemaleFloridaGenetic VariationGenotypeHumansLife Change EventsLogistic ModelsMaleMiddle AgedPolymorphism, GeneticPsychiatric Status Rating ScalesRisk FactorsSerotonin Plasma Membrane Transport ProteinsSocial SupportStress Disorders, Post-TraumaticConceptsHigh hurricane exposurePosttraumatic stress disorderLow social supportMajor depressionLow-expression variantPostdisaster posttraumatic stress disorderSocial supportStress disorderHurricane exposureHigh-risk individualsDSM-IV diagnosisLow-risk individualsAdults ages 18Household probability sampleSubset of participantsOutcome measuresAdults 6Serotonin transporter genotypeSerotonin transporter geneAge 18DepressionDisaster exposureTransporter genotypeRiskStructured interviewsCNR1 Variation Modulates Risk for Drug and Alcohol Dependence
Zuo L, Kranzler HR, Luo X, Covault J, Gelernter J. CNR1 Variation Modulates Risk for Drug and Alcohol Dependence. Biological Psychiatry 2007, 62: 616-626. PMID: 17509535, DOI: 10.1016/j.biopsych.2006.12.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBlack or African AmericanCase-Control StudiesChromosome MappingComorbidityFemaleGenetic MarkersGenetic Predisposition to DiseaseGenetic VariationGenotypeHumansMalePolymorphism, Single NucleotideReceptor, Cannabinoid, CB1Regression AnalysisRisk FactorsSubstance-Related DisordersWhite PeopleConceptsCannabinoid receptor 1Substance dependenceHealthy control subjectsHuman cannabinoid receptor 1Control subjectsSD patientsT genotypeProtective allelesAlcohol dependenceReceptor 1Disease riskModulate riskCNR1 geneCNR1 variationInitial reportCase-control sampleLarge case-control sampleRegression analysisRiskStrong genetic effectsMarkersSignificant interaction effectMultiple markersAncestry informative markersSNP8
2006
Genetic and Environmental Predictors of Early Alcohol Use
Kaufman J, Yang BZ, Douglas-Palumberi H, Crouse-Artus M, Lipschitz D, Krystal JH, Gelernter J. Genetic and Environmental Predictors of Early Alcohol Use. Biological Psychiatry 2006, 61: 1228-1234. PMID: 17123474, DOI: 10.1016/j.biopsych.2006.06.039.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlcohol DrinkingAllelesChildChild AbuseChild, PreschoolCohort StudiesDNAFemaleFollow-Up StudiesGenetic VariationGenotypeHumansMaleMental DisordersPredictive Value of TestsPrognosisPsychiatric Status Rating ScalesRiskSerotonin Plasma Membrane Transport ProteinsSocial EnvironmentSocial SupportStress Disorders, Post-TraumaticConceptsEarly alcohol useAlcohol useMaltreated childrenLater alcohol dependenceSubstance use disordersSubstance abuse problemsHigh riskMother-child relationsAlcohol dependenceSeverity of maltreatmentProtective factorsHome careIntervention effortsPotent predictorCommunity controlsAbuse problemsTransporter genotypeChildrenPredictorsMaltreatmentRiskBrain-Derived Neurotrophic Factor–5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children
Kaufman J, Yang BZ, Douglas-Palumberi H, Grasso D, Lipschitz D, Houshyar S, Krystal JH, Gelernter J. Brain-Derived Neurotrophic Factor–5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children. Biological Psychiatry 2006, 59: 673-680. PMID: 16458264, DOI: 10.1016/j.biopsych.2005.10.026.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBrain-Derived Neurotrophic FactorCase-Control StudiesChildChild AbuseChild, PreschoolChi-Square DistributionDepressionDNA Mutational AnalysisEnvironmentFemaleGene FrequencyGenetic VariationGenotypeHumansMaleMethioninePredictive Value of TestsPsychiatric Status Rating ScalesRisk FactorsSerotonin Plasma Membrane Transport ProteinsSeverity of Illness IndexSocial SupportSurveys and QuestionnairesValineConceptsBrain-derived neurotrophic factor (BDNF) genotypeNeurotrophic factor genotypeSocial supportHigher depression scoresBDNF genotypeProportion scoreBDNF geneProtective effectDepression scoresComparison subjectsPsychiatric symptomatologyModerate riskEnvironmental modifiersDepressionFactor genotypeChildrenDNA specimensStandard research instrumentsShort alleleRiskMaltreatment historyCurrent dataScoresAncestry informative markersChild abuse
2004
Social supports and serotonin transporter gene moderate depression in maltreated children
Kaufman J, Yang BZ, Douglas-Palumberi H, Houshyar S, Lipschitz D, Krystal JH, Gelernter J. Social supports and serotonin transporter gene moderate depression in maltreated children. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 17316-17321. PMID: 15563601, PMCID: PMC534414, DOI: 10.1073/pnas.0404376101.Peer-Reviewed Original ResearchConceptsSocial supportDevelopment of depressionGene promoter polymorphismTransporter gene promoter polymorphismSerotonin transporter gene promoter polymorphismHigher depression ratingsDepression ratingsClinical dataModerate depressionPsychiatric disordersDepression scoresPromoter polymorphismNegative sequelaeModerate riskDepressionEarly stressChildrenS genotypeHistory of maltreatmentRiskShort alleleResults of a genomewide linkage scan: Support for chromosomes 9 and 11 loci increasing risk for cigarette smoking
Gelernter J, Liu X, Hesselbrock V, Page GP, Goddard A, Zhang H. Results of a genomewide linkage scan: Support for chromosomes 9 and 11 loci increasing risk for cigarette smoking. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2004, 128B: 94-101. PMID: 15211640, DOI: 10.1002/ajmg.b.30019.Peer-Reviewed Original Research
2001
Case control and family‐based studies of tryptophan hydroxylase gene A218C polymorphism and suicidality in adolescents
Zalsman G, Frisch A, King R, Pauls D, Grice D, Gelernter J, Alsobrook J, Michaelovsky E, Apter A, Tyano S, Weizman A, Leckman J. Case control and family‐based studies of tryptophan hydroxylase gene A218C polymorphism and suicidality in adolescents. American Journal Of Medical Genetics 2001, 105: 451-457. PMID: 11449398, DOI: 10.1002/ajmg.1406.Peer-Reviewed Original ResearchConceptsSuicidal behaviorSuicide riskA218C polymorphismDetailed clinical historyHaplotype relative riskAssociation of suicidalityTransmission disequilibrium test (TDT) methodsTryptophan hydroxylase geneAdolescent suicidal behaviorClinical historySame ethnic populationRelative riskCase controlAA genotypeControl groupFamily-based studySuicide intentSignificant allelic associationSignificant differencesEthnic populationsStructured interviewsInpatient adolescentsRiskAssociationSuicidality