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 lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium
Stringer S, Minică CC, Verweij KJ, Mbarek H, Bernard M, Derringer J, van Eijk KR, Isen JD, Loukola A, Maciejewski DF, Mihailov E, van der Most PJ, Sánchez-Mora C, Roos L, Sherva R, Walters R, Ware JJ, Abdellaoui A, Bigdeli TB, Branje SJ, Brown SA, Bruinenberg M, Casas M, Esko T, Garcia-Martinez I, Gordon SD, Harris JM, Hartman CA, Henders AK, Heath AC, Hickie IB, Hickman M, Hopfer CJ, Hottenga JJ, Huizink AC, Irons DE, Kahn RS, Korhonen T, Kranzler HR, Krauter K, van Lier PA, Lubke GH, Madden PA, Mägi R, McGue MK, Medland SE, Meeus WH, Miller MB, Montgomery GW, Nivard MG, Nolte IM, Oldehinkel AJ, Pausova Z, Qaiser B, Quaye L, Ramos-Quiroga JA, Richarte V, Rose RJ, Shin J, Stallings MC, Stiby AI, Wall TL, Wright MJ, Koot HM, Paus T, Hewitt JK, Ribasés M, Kaprio J, Boks MP, Snieder H, Spector T, Munafò MR, Metspalu A, Gelernter J, Boomsma DI, Iacono WG, Martin NG, Gillespie NA, Derks EM, Vink JM. Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium. Translational Psychiatry 2016, 6: e769-e769. PMID: 27023175, PMCID: PMC4872459, DOI: 10.1038/tp.2016.36.Peer-Reviewed Original ResearchConceptsLifetime cannabis useCannabis useInternational Cannabis ConsortiumLifetime cannabisIndividual differencesAutism disorderOccasional cannabisCannabis initiationSubstance useEffect sizeSocial consequencesCannabisLifetime cigarette smokingCigarette useReplication sampleGene-based testsCigarette smokingPsychoactive substancesIllicit psychoactive substancesSNP effect sizesFrequent useGenome-wide association studiesGenetic correlationsGenome-wide association dataAbuse
2009
Association study of DTNBP1 with schizophrenia in a US sample
Zuo L, Luo X, Kranzler HR, Lu L, Rosenheck RA, Cramer J, van Kammen DP, Erdos J, Charney DS, Krystal J, Gelernter J. Association study of DTNBP1 with schizophrenia in a US sample. Psychiatric Genetics 2009, 19: 292-304. PMID: 19862852, PMCID: PMC2771321, DOI: 10.1097/ypg.0b013e32832a50bc.Peer-Reviewed Original ResearchThe efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation
Zuo L, Luo X, Krystal JH, Cramer J, Charney DS, Gelernter J. The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation. Pharmacogenetics And Genomics 2009, 19: 437-446. PMID: 19369910, PMCID: PMC2857717, DOI: 10.1097/fpc.0b013e32832b9cfc.Peer-Reviewed Original Research
2004
Central Serotonin Transporter Availability Measured With 123I-CIT SPECT in Relation to Serotonin Transporter Genotype
van Dyck CH, Malison RT, Staley JK, Jacobsen LK, Seibyl JP, Laruelle M, Baldwin RM, Innis RB, Gelernter J. Central Serotonin Transporter Availability Measured With 123I-CIT SPECT in Relation to Serotonin Transporter Genotype. American Journal Of Psychiatry 2004, 161: 525-531. PMID: 14992979, DOI: 10.1176/appi.ajp.161.3.525.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAllelesBrainBrain MappingCarrier ProteinsCocaineFemaleGene FrequencyGenotypeHumansIodine RadioisotopesMaleMembrane GlycoproteinsMembrane Transport ProteinsMiddle AgedNerve Tissue ProteinsPolymorphism, GeneticPromoter Regions, GeneticReference ValuesSerotonin Plasma Membrane Transport ProteinsTandem Repeat SequencesTomography, Emission-Computed, Single-PhotonConceptsSERT availabilitySerotonin transporter proteinEuropean-American subjectsSERT levelsCentral serotonin transporter availabilitySLC6A4 promoter polymorphismSerotonin transporter availabilitySingle photon emissionEffect of ageLong alleleSerotonin transmissionBrain uptakeLong homozygotesAmerican subjectsTransporter availabilityPromoter polymorphismSerotonin transporter genotypeClinical phenotypeTomography scanningNeuropsychiatric diseasesNonneural cellsFunctional polymorphismsSLC6A4 genotypeNonsignificant tendencyTransporter genotype
2003
Alleles of a Functional Serotonin Transporter Promoter Polymorphism Are Associated With Major Depression in Alcoholics
Nellissery M, Feinn RS, Covault J, Gelernter J, Anton RF, Pettinati H, Moak D, Mueller T, Kranzler HR. Alleles of a Functional Serotonin Transporter Promoter Polymorphism Are Associated With Major Depression in Alcoholics. Alcohol Clinical And Experimental Research 2003, 27: 1402-1408. PMID: 14506400, DOI: 10.1097/01.alc.0000085588.11073.bb.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismAllelesBlack PeopleCarrier ProteinsChromosome MappingComorbidityDepressive Disorder, MajorFemaleGene FrequencyGenotypeHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsMiddle AgedNerve Tissue ProteinsPhenotypePolymerase Chain ReactionPolymorphism, GeneticPromoter Regions, GeneticSerotonin Plasma Membrane Transport ProteinsWhite PeopleConceptsMajor depressionComorbid alcohol dependenceAlcohol dependenceFunctional serotonin transporter promoter polymorphismAfrican American patientsSubstance use disordersSerotonin transporter promoter polymorphismShort alleleTransporter promoter polymorphismSerotonin transporter proteinAntidepressant treatmentPatient groupAmerican patientsSerotonergic neurotransmissionDepressed alcoholicsMood disordersPromoter polymorphismUnipolar depressionUse disordersControl groupTreatment studiesFunctional polymorphismsGenetic predictorsSerotonin transporterWhole blood
2002
Association between a serotonin transporter promoter region polymorphism and mood response during tryptophan depletion
Moreno FA, Rowe DC, Kaiser B, Chase D, Michaels T, Gelernter J, Delgado PL. Association between a serotonin transporter promoter region polymorphism and mood response during tryptophan depletion. Molecular Psychiatry 2002, 7: 213-216. PMID: 11840315, DOI: 10.1038/sj.mp.4000962.Peer-Reviewed Original ResearchConceptsHamilton Depression Rating ScaleTRP depletionTryptophan depletionMajor depressive episodeDepression Rating ScaleDepressive symptom responseMood responsesPromoter region polymorphismsDepressive episodeSymptom responseBlood lymphocytesDepressive symptomsAffective disordersDepressive responseSerotonin transporter geneDepressive changesSignificant associationEndophenotypic markerFunctional polymorphismsRating ScaleCheek cellsRegion polymorphismsSignificant main effectHomozygous genotypeTransporter activity
2001
The Variable Number of Tandem Repeats Polymorphism of the Dopamine Transporter Gene Is Not Associated with Significant Change in Dopamine Transporter Phenotype in Humans
Martinez D, Gelernter J, Abi-Dargham A, van Dyck C, Kegeles L, Innis R, Laruelle M. The Variable Number of Tandem Repeats Polymorphism of the Dopamine Transporter Gene Is Not Associated with Significant Change in Dopamine Transporter Phenotype in Humans. Neuropsychopharmacology 2001, 24: 553-560. PMID: 11282255, DOI: 10.1016/s0893-133x(00)00216-5.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmphetamineAttention Deficit Disorder with HyperactivityBenzamidesCarrier ProteinsCocaineCocaine-Related DisordersDopamineDopamine AntagonistsDopamine Plasma Membrane Transport ProteinsGenotypeHumansIodine RadioisotopesMembrane GlycoproteinsMembrane Transport ProteinsMinisatellite RepeatsNeostriatumNerve Tissue ProteinsPhenotypePolymorphism, GeneticPsychotic DisordersPyrrolidinesRadiopharmaceuticalsSchizophreniaTomography, Emission-Computed, Single-PhotonConceptsAmphetamine-induced dopamine releaseDopamine releaseDAT expressionDopamine transporterDifferent patient populationsAttention deficit hyperactivity disorderDeficit hyperactivity disorderNeurochemical phenotypePatient populationHealthy controlsDAT densityComputerized emission tomographyDopamine transmissionClinical phenotypeDiagnostic groupsSignificant associationEmission tomographyCocaine-induced paranoiaHyperactivity disorderTandem repeat polymorphismVNTR polymorphismDopamine transporter geneRepeat polymorphismTotal sampleFamily‐based association study of serotonin transporter promoter in suicidal adolescents: No association with suicidality but possible role in violence traits
Zalsman G, Frisch A, Bromberg M, Gelernter J, Michaelovsky E, Campino A, Erlich Z, Tyano S, Apter A, Weizman A. Family‐based association study of serotonin transporter promoter in suicidal adolescents: No association with suicidality but possible role in violence traits. American Journal Of Medical Genetics 2001, 105: 239-245. PMID: 11353442, DOI: 10.1002/ajmg.1261.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnalysis of VarianceCarrier ProteinsFamily HealthFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansIsraelMaleMembrane GlycoproteinsMembrane Transport ProteinsMental DisordersNerve Tissue ProteinsPhenotypePolymorphism, GeneticPromoter Regions, GeneticPsychology, AdolescentSerotonin Plasma Membrane Transport ProteinsSuicide, AttemptedViolenceConceptsSuicidal behaviorDetailed clinical historySerotonin transporter promoterSuicide-related behaviorsPromoter region polymorphismsSerotonin dysfunctionClinical parametersClinical historyBlood samplesHaplotype relative risk methodRelative risk methodSuicidal adolescentsSuicide riskLS genotypeAdolescent inpatientsAnxiety disordersSuicide intentSignificant allelic associationSuicidal adolescent inpatientsSignificant differencesFamily-based association studyPatientsRegion polymorphismsTransporter promoterPossible role
2000
Prediction of Dopamine Transporter Binding Availability by Genotype: A Preliminary Report
Jacobsen LK, Staley JK, Zoghbi SS, Seibyl JP, Kosten TR, Innis RB, Gelernter J. Prediction of Dopamine Transporter Binding Availability by Genotype: A Preliminary Report. American Journal Of Psychiatry 2000, 157: 1700-1703. PMID: 11007732, DOI: 10.1176/appi.ajp.157.10.1700.Peer-Reviewed Original ResearchMeSH KeywordsAdultCarrier ProteinsDNADopamineDopamine Plasma Membrane Transport ProteinsFemaleGenotypeHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsMinisatellite RepeatsNerve Tissue ProteinsPolymerase Chain ReactionPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsTomography, Emission-Computed, Single-Photon
1999
Population studies of polymorphisms of the serotonin transporter protein gene
Gelernter J, Cubells JF, Kidd JR, Pakstis AJ, Kidd KK. Population studies of polymorphisms of the serotonin transporter protein gene. American Journal Of Medical Genetics 1999, 88: 61-66. PMID: 10050969, DOI: 10.1002/(sici)1096-8628(19990205)88:1<61::aid-ajmg11>3.0.co;2-k.Peer-Reviewed Original ResearchConceptsAllele frequency variationImportant genetic variationTransporter protein geneSerotonin transporter protein geneProtein lociGenetic variationProtein geneAssociation studiesFunctional significancePopulation stratificationDepression-related phenotypesAllele frequenciesHaplotype frequenciesLociPolymorphismSLC6A4 polymorphismsGenesGlobal variationVNTR polymorphismPhenotypeDisequilibriumPopulationVariationPromoter polymorphismPopulation studies
1998
Serotonin Transporter Protein Gene Polymorphism and Personality Measures in African American and European American Subjects
Gelernter J, Kranzler H, Coccaro EF, Siever LJ, New AS. Serotonin Transporter Protein Gene Polymorphism and Personality Measures in African American and European American Subjects. American Journal Of Psychiatry 1998, 155: 1332-1338. PMID: 9766763, DOI: 10.1176/ajp.155.10.1332.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack PeopleCarrier ProteinsFemaleGene FrequencyGenotypeHumansIntronsMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPersonalityPersonality DisordersPolymorphism, GeneticPromoter Regions, GeneticSerotoninSerotonin Plasma Membrane Transport ProteinsSubstance-Related DisordersWhite PeopleConceptsOverall negative findingsSLC6A4 promoter polymorphismNormal comparison subjectsPsychiatric diagnostic groupsProtein gene polymorphismsAmerican subjectsSynaptic inactivationComparison subjectsPromoter polymorphismPsychiatric diagnosisEuropean-American subjectsGene polymorphismsNeuroticism scoresDiagnostic groupsDemographic featuresNegative findingsHarm avoidanceNeurotransmitter serotoninSubstance dependenceSerotonin transporterPersonality disorderSLC6A4 polymorphismsDemographic factorsPresent findingsPromoter regionPopulation Studies of Polymorphisms at Loci of Neuropsychiatric Interest (Tryptophan Hydroxylase (TPH), Dopamine Transporter Protein (SLC6A3), D3 Dopamine Receptor (DRD3), Apolipoprotein E (APOE), μ Opioid Receptor (OPRM1), and Ciliary Neurotrophic Factor (CNTF))
Gelernter J, Kranzler H, Lacobelle J. Population Studies of Polymorphisms at Loci of Neuropsychiatric Interest (Tryptophan Hydroxylase (TPH), Dopamine Transporter Protein (SLC6A3), D3 Dopamine Receptor (DRD3), Apolipoprotein E (APOE), μ Opioid Receptor (OPRM1), and Ciliary Neurotrophic Factor (CNTF)). Genomics 1998, 52: 289-297. PMID: 9790747, DOI: 10.1006/geno.1998.5454.Peer-Reviewed Original ResearchMeSH KeywordsAllelesApolipoproteins ECarrier ProteinsCiliary Neurotrophic FactorDopamine Plasma Membrane Transport ProteinsGenetics, PopulationGenotypeHumansMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPolymorphism, GeneticReceptors, Dopamine D2Receptors, Dopamine D3Receptors, Opioid, muTryptophan HydroxylaseConceptsCiliary neurotrophic factorEvidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder
McDougle CJ, Epperson CN, Price LH, Gelernter J. Evidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder. Molecular Psychiatry 1998, 3: 270-273. PMID: 9672904, DOI: 10.1038/sj.mp.4000391.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderCompulsive disorderTreatment of OCDSerotonin transporter proteinHeterozygous parentsMedication targetsDrug nonrespondersMeasures of anxietyInhibitor drugsProtein expressionSerotonin transporter protein geneSLC6A4 allelesLinkage disequilibriumBehavioral phenotypes
1997
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
Gelernter J, Kranzler H, Cubells J. Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects. Human Genetics 1997, 101: 243-246. PMID: 9402979, DOI: 10.1007/s004390050624.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAsian PeopleBlack PeopleCarrier ProteinsEuropeFemaleGene FrequencyHaplotypesHumansJapanLinkage DisequilibriumMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsUnited StatesWhite PeopleConceptsPairs of populationsRandom genetic driftHaplotype frequenciesAlters transcriptional activityDifferent behavioral adaptationsAllele frequenciesGenetic driftVariable number tandem repeatGenetic variationSequence polymorphismsTranscriptional activityPromoter regionBehavioral variationNeutral polymorphismsAssociation studiesTandem repeatsNumber tandem repeatSLC6A4 locusDepression-related traitsProtein allelesLinkage disequilibriumLociPopulation differencesPopulation stratificationExon 2
1995
The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome
Gelernter J, Vandenbergh D, Kruger S, Pauls D, Kurlan R, Pakstis A, Kidd K, Uhl G. The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome. Genomics 1995, 30: 459-463. PMID: 8825631, DOI: 10.1006/geno.1995.1265.Peer-Reviewed Original ResearchConceptsTourette syndromeDopamine transporterAttention deficit disorderDopaminergic neuronsPresynaptic reuptakeSpecific localizationPsychiatric illnessPsychostimulant drugsChromosome 5pCocaine-induced paranoiaSyndromeDeficit disorderSLC6A3ScoresMajor siteLinkage studiesNegative lod scoresMarkersTransporter protein geneLinkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17
Gelernter J, Pakstis AJ, Kidd KK. Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17. Human Genetics 1995, 95: 677-680. PMID: 7789954, DOI: 10.1007/bf00209486.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismTransporter proteinsTransporter protein geneSerotonin transporter protein geneNorepinephrine transporter proteinLinkage mapLinkage mappingProtein geneChromosome 16q21Genetic lociCandidate genesUntranslated regionFragment length polymorphismChromosome 17GenesLinkage resultsSitu hybridizationGene SLC6A4Length polymorphismLinkage studiesPCR productsProximal 17qProteinLogical candidate geneSLC6A4
1994
Genetic Association between Dopamine Transporter Protein Alleles and Cocaine-Induced Paranoia
Gelernter J, Kranzler H, Satel S, Rao P. Genetic Association between Dopamine Transporter Protein Alleles and Cocaine-Induced Paranoia. Neuropsychopharmacology 1994, 11: 195-200. PMID: 7865100, DOI: 10.1038/sj.npp.1380106.Peer-Reviewed Original ResearchPstl RFLP at the SERT locus
Gelernter J, Freimer M. Pstl RFLP at the SERT locus. Human Molecular Genetics 1994, 3: 383-383. PMID: 7911700, DOI: 10.1093/hmg/3.2.383.Peer-Reviewed Original ResearchBase SequenceCarrier ProteinsChromosomes, Human, Pair 17Deoxyribonucleases, Type II Site-SpecificDNA PrimersGenesHumansMembrane GlycoproteinsMembrane Transport ProteinsMolecular Sequence DataNerve Tissue ProteinsPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthSerotonin Plasma Membrane Transport Proteins
1993
Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16
Gelernter J, Kruger S, Pakstis A, Pacholczyk T, Sparkes R, Kidd K, Amara S. Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16. Genomics 1993, 18: 690-692. PMID: 7905857, DOI: 10.1016/s0888-7543(05)80375-1.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsChromosome MappingChromosomes, Human, Pair 16Deoxyribonucleases, Type II Site-SpecificDNA, ComplementaryGenetic LinkageGenetic MarkersHumansNorepinephrineNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Restriction Fragment LengthRestriction MappingSymportersConceptsNorepinephrine transporter proteinSomatic cell hybrid panelCell hybrid panelHybrid panelHP locusCEPH familiesLarge multigenerational familyTransporter proteinsLinkage analysisChromosome 16Provisional assignmentLinkage dataLociMultigenerational familiesGenetic polymorphismsSite of actionPreliminary assignmentNet1FamilyProteinRFLPSitesPolymorphismPCRLocalization