2022
Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology
Lam M, Chen C, Hill W, Xia C, Tian R, Levey D, Gelernter J, Stein M, Hatoum A, Huang H, Malhotra A, Runz H, Ge T, Lencz T. Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology. Nature Communications 2022, 13: 6868. PMID: 36369282, PMCID: PMC9652380, DOI: 10.1038/s41467-022-34418-y.Peer-Reviewed Original ResearchPhenome-wide Association Analysis of Substance Use Disorders in a Deeply Phenotyped Sample
Kember RL, Hartwell EE, Xu H, Rotenberg J, Almasy L, Zhou H, Gelernter J, Kranzler HR. Phenome-wide Association Analysis of Substance Use Disorders in a Deeply Phenotyped Sample. Biological Psychiatry 2022, 93: 536-545. PMID: 36273948, PMCID: PMC9931661, DOI: 10.1016/j.biopsych.2022.08.010.Peer-Reviewed Original ResearchConceptsSubstance use disordersAlcohol use disorderOpioid use disorderPolygenic risk scoresUse disordersCo-occurring psychiatric disordersComprehensive psychiatric interviewSemi-Structured AssessmentElectronic health recordsControl subjectsLow prevalencePsychiatric interviewRisk scorePsychiatric disordersPhenome-wide association analysisDrug dependenceEuropean individualsHealth recordsLifetime cannabisPhenome-wide association studyDisordersAfrican ancestry individualsDSM diagnosesPopulation sampleGenetic liability
2018
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, Gandal M, Goldstein JI, Grasby KL, Grove J, Gudmundsson OO, Hansen CS, Hauberg ME, Hollegaard MV, Howrigan DP, Huang H, Maller JB, Martin AR, Martin NG, Moran J, Pallesen J, Palmer DS, Pedersen CB, Pedersen MG, Poterba T, Poulsen JB, Ripke S, Robinson EB, Satterstrom FK, Stefansson H, Stevens C, Turley P, Walters GB, Won H, Wright MJ, Andreassen O, Asherson P, Burton C, Boomsma D, Cormand B, Dalsgaard S, Franke B, Gelernter J, Geschwind D, Hakonarson H, Haavik J, Kranzler H, Kuntsi J, Langley K, Lesch K, Middeldorp C, Reif A, Rohde L, Roussos P, Schachar R, Sklar P, Sonuga-Barke E, Sullivan P, Thapar A, Tung J, Waldman I, Medland S, Stefansson K, Nordentoft M, Hougaard D, Werge T, Mors O, Mortensen P, Daly M, Faraone S, Børglum A, Neale B. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics 2018, 51: 63-75. PMID: 30478444, PMCID: PMC6481311, DOI: 10.1038/s41588-018-0269-7.Peer-Reviewed Original ResearchConceptsGenome-wide significant risk lociFunction intolerant genesGenome-wide associationSignificant risk lociGenome-wide significanceAttention-deficit/hyperactivity disorderCommon genetic variantsGenomic regionsIntolerant genesIndependent lociRegulatory marksHeritable traitRisk lociDeficit/hyperactivity disorderGenetic variantsGenetic overlapStudy-specific differencesLociHyperactivity disorderImportant new informationUnderlying biologyChildhood behavioral disordersVariantsStrong concordanceGWAS
2014
Child Abuse, Depression, and Methylation in Genes Involved With Stress, Neural Plasticity, and Brain Circuitry
Weder N, Zhang H, Jensen K, Yang BZ, Simen A, Jackowski A, Lipschitz D, Douglas-Palumberi H, Ge M, Perepletchikova F, O'Loughlin K, Hudziak JJ, Gelernter J, Kaufman J. Child Abuse, Depression, and Methylation in Genes Involved With Stress, Neural Plasticity, and Brain Circuitry. Journal Of The American Academy Of Child & Adolescent Psychiatry 2014, 53: 417-424.e5. PMID: 24655651, PMCID: PMC4126411, DOI: 10.1016/j.jaac.2013.12.025.Peer-Reviewed Original ResearchConceptsTubulin Polymerization Promoting ProteinCandidate genesEpigenetic changesMethylation sitesGenome-wide methylation studyMultiple methylation sitesK BeadChip arraySaliva-derived DNAEpigenetic mechanismsK BeadChipBeadChip arrayEpigenetic markersStress responseMethylation studiesCpG sitesGenesNeural circuitry developmentMethylationId-3Whole genome testingNeural plasticityGRIN1Genome testingPlasticityGlutamate receptors
2013
Child Abuse and Epigenetic Mechanisms of Disease Risk
Yang BZ, Zhang H, Ge W, Weder N, Douglas-Palumberi H, Perepletchikova F, Gelernter J, Kaufman J. Child Abuse and Epigenetic Mechanisms of Disease Risk. American Journal Of Preventive Medicine 2013, 44: 101-107. PMID: 23332324, PMCID: PMC3758252, DOI: 10.1016/j.amepre.2012.10.012.Peer-Reviewed Original Research
2010
A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Is Associated with Increased Risk for Selective Mutism and Social Anxiety-Related Traits
Stein MB, Yang BZ, Chavira DA, Hitchcock CA, Sung SC, Shipon-Blum E, Gelernter J. A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Is Associated with Increased Risk for Selective Mutism and Social Anxiety-Related Traits. Biological Psychiatry 2010, 69: 825-831. PMID: 21193173, PMCID: PMC3079072, DOI: 10.1016/j.biopsych.2010.11.008.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAllelesChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenotypeHaplotypesHumansLinear ModelsMaleMembrane ProteinsMutismNerve Tissue ProteinsOdds RatioPhobic DisordersPolymorphism, Single NucleotidePsychiatric Status Rating ScalesSelf ReportSurveys and Questionnaires
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 levelsCorrelates of co-occurring ADHD in drug-dependent subjects: Prevalence and features of substance dependence and psychiatric disorders
Arias AJ, Gelernter J, Chan G, Weiss RD, Brady KT, Farrer L, Kranzler HR. Correlates of co-occurring ADHD in drug-dependent subjects: Prevalence and features of substance dependence and psychiatric disorders. Addictive Behaviors 2008, 33: 1199-1207. PMID: 18558465, PMCID: PMC2532519, DOI: 10.1016/j.addbeh.2008.05.003.Peer-Reviewed Original ResearchConceptsAttention deficit hyperactivity disorderFirst substance useOpioid dependenceLifetime diagnosisSubstance useCo-occurring attention-deficit hyperactivity disorderSubstance dependence disordersDrug-dependent subjectsSemi-Structured AssessmentDeficit hyperactivity disorderClinical courseMore hospitalizationsSevere coursePsychiatric comorbiditySD diagnosisDependence disordersPsychiatric disordersADHD prevalencePsychiatric diagnosisDrug dependenceMore SDsSubstance dependenceConduct disorderDiagnosisHyperactivity disorderInfluence 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
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
1993
Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor
Gelernter J, Kennedy JL, Grandy DK, Zhou QY, Civelli O, Pauls DL, Pakstis A, Kurlan R, Sunahara RK, Niznik HB. Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor. American Journal Of Psychiatry 1993, 150: 449-453. PMID: 8434661, DOI: 10.1176/ajp.150.3.449.Peer-Reviewed Original Research