2024
Cross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking
Johnson E, Austin-Zimmerman I, Thorpe H, Levey D, Baranger D, Colbert S, Demontis D, Khokhar J, Davis L, Edenberg H, Di Forti M, Sanchez-Roige S, Gelernter J, Agrawal A. Cross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking. Neuropsychopharmacology 2024, 49: 1655-1665. PMID: 38906991, PMCID: PMC11399264, DOI: 10.1038/s41386-024-01886-3.Peer-Reviewed Original ResearchCannabis use disorderUse disorderPleiotropic lociCo-occurring substance useHeavy cannabis useInvestigation of schizophreniaSubstance use disordersGenome-wide studiesGenetic factorsMental health conditionsExecutive functionCannabis useSubstance useLead variantsSchizophreniaGenetic variantsEuropean ancestryEuropean ancestry dataRisk-takingSCZHeritable factorsCannabisDisordersTobacco smokeGenetic correlationsDissecting the Relationships Between Cannabis Use Disorder and Schizophrenia Using Genome-Wide Approaches
Johnson E, Levey D, Baranger D, Colbert S, Gelernter J, Agrawal A. Dissecting the Relationships Between Cannabis Use Disorder and Schizophrenia Using Genome-Wide Approaches. Biological Psychiatry 2024, 95: s28-s29. DOI: 10.1016/j.biopsych.2024.02.075.Peer-Reviewed Original Research
2018
Multivariate Pattern Analysis of Genotype–Phenotype Relationships in Schizophrenia
Zheutlin AB, Chekroud AM, Polimanti R, Gelernter J, Sabb FW, Bilder RM, Freimer N, London ED, Hultman CM, Cannon TD. Multivariate Pattern Analysis of Genotype–Phenotype Relationships in Schizophrenia. Schizophrenia Bulletin 2018, 44: 1045-1052. PMID: 29534239, PMCID: PMC6101611, DOI: 10.1093/schbul/sby005.Peer-Reviewed Original ResearchConceptsMultivariate pattern analysisIndependent samplesVisual memoryCognitive endophenotypesPredictive strengthSchizophreniaMemoryIndividual variationPattern analysisSingle predictorCertain domainsDiscovery samplePsychiatric patientsPolygenic risk scoresPredictive powerScoresEndophenotypesPotential relationshipRelationshipRandom forestGenetic risk variantsLimited setPredictorsComprehensive setSamples
2017
Schizophrenia and substance use comorbidity: a genome-wide perspective
Polimanti R, Agrawal A, Gelernter J. Schizophrenia and substance use comorbidity: a genome-wide perspective. Genome Medicine 2017, 9: 25. PMID: 28327175, PMCID: PMC5359801, DOI: 10.1186/s13073-017-0423-3.Peer-Reviewed Original ResearchConceptsSubstance use disordersPublic health messagesPremature mortalityPsychiatric disordersUse disordersDual diagnosisHealth messagesRecent genetic investigationsDiagnosisSchizophreniaDisordersGenetic investigationsWide association studyAssociation studiesComorbiditiesMortalityGenome-wide perspective
2009
A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia
Meda SA, Jagannathan K, Gelernter J, Calhoun VD, Liu J, Stevens MC, Pearlson GD. A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. NeuroImage 2009, 53: 1007-1015. PMID: 19944766, PMCID: PMC3968678, DOI: 10.1016/j.neuroimage.2009.11.052.Peer-Reviewed Original ResearchMeSH KeywordsAcoustic StimulationBrain MappingBrain-Derived Neurotrophic FactorDopamine Plasma Membrane Transport ProteinsEndophenotypesFemaleGenetic Predisposition to DiseaseGenotypeHumansImage Interpretation, Computer-AssistedMagnetic Resonance ImagingMaleNeural PathwaysPilot ProjectsPolymorphism, Single NucleotideSchizophreniaSerotonin Plasma Membrane Transport ProteinsConceptsDopamine transporterBrain functionNeurotropic factorAuditory oddball taskSchizophrenia patientsSingle nucleotide polymorphismsMultiple risk genesRisk genesOddball taskRelated brain functionsHealthy controlsSchizophrenia risk genesAbnormal activationGenomic factorsTemporal gyrusPatientsTask-relevant regionsSchizophreniaSignificant differencesAttention/Multiple single nucleotide polymorphismsGenetic profilePsychiatric neuroimagingBrainGenotype-phenotype relationshipsPopulation 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
Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth
Budel S, Padukkavidana T, Liu BP, Feng Z, Hu F, Johnson S, Lauren J, Park JH, McGee AW, Liao J, Stillman A, Kim JE, Yang BZ, Sodi S, Gelernter J, Zhao H, Hisama F, Arnsten AF, Strittmatter SM. Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth. Journal Of Neuroscience 2008, 28: 13161-13172. PMID: 19052207, PMCID: PMC2892845, DOI: 10.1523/jneurosci.3828-08.2008.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainChick EmbryoChlorocebus aethiopsChromosome MappingCodonCOS CellsFemaleGenetic Predisposition to DiseaseGPI-Linked ProteinsGrowth ConesGrowth InhibitorsHumansMaleMiceMice, KnockoutMutationMyelin ProteinsNerve Fibers, MyelinatedNeurogenesisNeuronal PlasticityNogo Receptor 1Organ Culture TechniquesRatsReceptors, Cell SurfaceSchizophreniaConceptsMyelin inhibitionNogo-66 receptorCase-control analysisMyelin-specific genesAxonal sproutingMyelin signalGenetic predispositionAxon inhibitionNeuronal culturesPossible associationReceptor 1Disease riskAxon growthSchizophreniaAxonal proteinsPotential endophenotypeMemory functionGenetic variantsDysfunctional proteinsInhibitionSchizophrenia susceptibilityDominant negativeProtein exhibitCandidate genesChromosome 22q11
2006
Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence
Zhang H, Ozbay F, Lappalainen J, Kranzler HR, van Dyck CH, Charney DS, Price LH, Southwick S, Yang B, Rasmussen A, Gelernter J. Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 141B: 387-393. PMID: 16649215, PMCID: PMC2567822, DOI: 10.1002/ajmg.b.30332.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAlzheimer DiseaseBrain-Derived Neurotrophic FactorChromatography, High Pressure LiquidDNA Mutational AnalysisFemaleGene FrequencyGenotypeHaplotypesHumansLinkage DisequilibriumLogistic ModelsMaleMiddle AgedMood DisordersPolymorphism, Single NucleotideSchizophreniaStress Disorders, Post-TraumaticSubstance-Related DisordersConceptsPosttraumatic stress disorderAffective disordersAlzheimer's diseaseSubstance dependenceGene variantsStress disorderBDNF gene variantsNormal control subjectsLogistic regression analysisAge of subjectsBDNF variantsNeurotrophic factorControl subjectsBDNF geneBDNF SNPsG genotypeEuropean-American subjectsG alleleDrug dependenceNeuropsychiatric disordersModest associationSchizophreniaDiseaseNovel gene variantsDisorders
2004
NOTCH4 gene haplotype is associated with schizophrenia in African Americans
Luo X, Klempan TA, Lappalainen J, Rosenheck RA, Charney DS, Erdos J, van Kammen DP, Kranzler HR, Kennedy JL, Gelernter J. NOTCH4 gene haplotype is associated with schizophrenia in African Americans. Biological Psychiatry 2004, 55: 112-117. PMID: 14732589, DOI: 10.1016/s0006-3223(03)00588-2.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBlack or African AmericanChi-Square DistributionCysteineDiagnostic and Statistical Manual of Mental DisordersFemaleGene FrequencyGenotypeGlycineHaplotypesHumansLinkage DisequilibriumMalePolymerase Chain ReactionPolymorphism, Single NucleotideProto-Oncogene ProteinsReceptor, Notch4Receptors, Cell SurfaceReceptors, NotchSchizophreniaThreonineConceptsHealthy control subjectsControl subjectsSingle nucleotide polymorphismsExact testSchizophrenia patientsAfrican AmericansFisher's exact testNOTCH4 locusChi-square testComparison of alleleEuropean-American subjectsPositive linkage disequilibriumAA subjectsPatientsSchizophreniaSpecific markersHaplotype frequenciesT associatesLinkage disequilibriumEA subjectsNOTCH4 geneSubjectsGene haplotypesAmerican subjectsNucleotide polymorphisms
2003
CALCYON gene variation, schizophrenia, and cocaine dependence
Luo X, Kranzler H, Lappalainen J, Rosenheck R, Charney D, Zuo L, Erdos J, van Kammen DP, Gelernter J. CALCYON gene variation, schizophrenia, and cocaine dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2003, 125B: 25-30. PMID: 14755439, DOI: 10.1002/ajmg.b.20092.Peer-Reviewed Original ResearchConceptsCocaine dependenceSingle nucleotide polymorphismsExact testEA subjectsFisher's exact testSubstance use disordersCalcyon geneDopamine receptor-interacting proteinsComparison of alleleUse disordersEuropean-American subjectsControl groupAA subjectsSchizophreniaReceptor-interacting proteinHaplotype frequenciesPotential roleSpecific polymorphismsMotor controlGene variationSame haplotype blockGenetic variantsSubjectsNucleotide polymorphismsLinkage disequilibrium
2002
Dopamine Beta‐Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study
Yamamoto K, Cubells JF, Gelernter J, Benkelfat C, Lalonde P, Bloom D, Lal S, Labelle A, Turecki G, Rouleau GA, Joober R. Dopamine Beta‐Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2002, 117B: 33-38. PMID: 12555232, DOI: 10.1002/ajmg.b.10011.Peer-Reviewed Original ResearchConceptsTherapeutic responseDopamine beta-hydroxylase (DBH) geneMean total BPRS scoreBeta-hydroxylase geneGroup of patientsTotal BPRS scoreLow DBH activityNR patientsBPRS scoresNeuroleptic drugsHealthy volunteersPsychotic symptomsSchizophrenic patientsDBH activitySymptom profilesPositive linkage disequilibriumPatientsCocaine-induced paranoiaCausative factorsPhenotypic variabilitySchizophreniaGenetic association studiesGenotype differencesPolymorphismDBH gene
2001
Human GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrain
1988
Schizophrenia: Instability in Norepinephrine, Serotonin, and γ-Aminobutyric Acid Systems
Gelernter J, van Kammen D. Schizophrenia: Instability in Norepinephrine, Serotonin, and γ-Aminobutyric Acid Systems. International Review Of Neurobiology 1988, 29: 309-347. PMID: 3042667, DOI: 10.1016/s0074-7742(08)60091-4.Peer-Reviewed Original ResearchConceptsGABA systemΓ-aminobutyric acid (GABA) systemPathophysiology of schizophreniaClinical instabilitySymptomatic periodClinical syndromeDA dysregulationNeurotransmitter systemsSystem disordersState-dependent changesClinical pathologyConflicting dataSchizophrenia researchSchizophreniaDopamineGenetic vulnerabilitySchizophrenic individualsMost evidenceNorepinephrineSerotoninNE systemDisordersEvidenceRelapsePathophysiology