2023
Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders
Hatoum A, Colbert S, Johnson E, Huggett S, Deak J, Pathak G, Jennings M, Paul S, Karcher N, Hansen I, Baranger D, Edwards A, Grotzinger A, Tucker-Drob E, Kranzler H, Davis L, Sanchez-Roige S, Polimanti R, Gelernter J, Edenberg H, Bogdan R, Agrawal A. Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nature Mental Health 2023, 1: 210-223. PMID: 37250466, PMCID: PMC10217792, DOI: 10.1038/s44220-023-00034-y.Peer-Reviewed Original ResearchGenome-wide associationGenetic risk lociIndependent single nucleotide polymorphismsProblematic tobacco useSingle nucleotide polymorphismsRisk lociHigh polygenicityLociReceptor geneAddiction risk factorsPolygenic risk scoresEuropean descentPolygenicityGenesSummary statisticsSubstance use disordersSomatic conditionsAncestryRegulationConfersUse disordersPolymorphismGenetic liabilityDopamine regulationPDE4B
2022
Exploring the genetic overlap between twelve psychiatric disorders
Romero C, Werme J, Jansen P, Gelernter J, Stein M, Levey D, Polimanti R, de Leeuw C, Posthuma D, Nagel M, van der Sluis S. Exploring the genetic overlap between twelve psychiatric disorders. Nature Genetics 2022, 54: 1795-1802. PMID: 36471075, DOI: 10.1038/s41588-022-01245-2.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPleiotropic single nucleotide polymorphismsPositive genetic correlationStringent P-value thresholdGenetic architectureGenomic regionsGenetic covarianceBiological processesBiological pathwaysMolecular characterizationObserved phenotypicGenetic correlationsGenetic overlapBiological characterizationBiological mechanismsP-value thresholdOnly annotationGenesPleiotropicPairwise comparisonsPhenotypicPathwayAnnotationPolymorphismCharacterization
2019
Differentiating Types of Self-Reported Alcohol Abstinence
Gordon KS, McGinnis K, Dao C, Rentsch CT, Small A, Smith RV, Kember RL, Gelernter J, Kranzler HR, Bryant KJ, Tate JP, Justice AC. Differentiating Types of Self-Reported Alcohol Abstinence. AIDS And Behavior 2019, 24: 655-665. PMID: 31435887, PMCID: PMC6994373, DOI: 10.1007/s10461-019-02638-x.Peer-Reviewed Original ResearchConceptsLifetime abstainersSelf-reported alcohol abstinenceAlcohol biomarkersGenetic polymorphismsLogistic regression modelsHepatitis CAlcohol abstinenceUninfected individualsCharacteristics of peopleAlcohol useAbstinenceHealth effectsSmokingAbstainersBiomarkersRegression modelsOddsAssociationPLWHPolymorphismHIVCocaine
2014
Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J. Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence. Neuropsychopharmacology 2014, 40: 1016-1026. PMID: 25345593, PMCID: PMC4330517, DOI: 10.1038/npp.2014.290.Peer-Reviewed Original ResearchMeSH KeywordsAlpha CateninChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18DNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLeukocyte Common AntigensMaleMeta-Analysis as TopicOpioid-Related DisordersReceptor-Like Protein Tyrosine Phosphatases, Class 2ConceptsCopy number variationsAssociation studiesNumber variationsGenome-wide association studiesWide association studyUnique copy number variationsCommon copy number variationFirst GWASHarbor genesMissing heritabilityHuman genomeGenomic variationBiological importanceGenomeGenesGenetic risk factorsHeritabilitySubstance dependence riskGWASDuplicationDeletionReplicationPolymorphismVariationSmall proportionSLC6A4 polymorphism, population genetics, and psychiatric traits
Gelernter J. SLC6A4 polymorphism, population genetics, and psychiatric traits. Human Genetics 2014, 133: 459-461. PMID: 24385047, PMCID: PMC3992709, DOI: 10.1007/s00439-013-1412-2.Peer-Reviewed Original Research
2011
Components of Cross-Frequency Modulation in Health and Disease
Allen EA, Liu J, Kiehl KA, Gelernter J, Pearlson GD, Perrone-Bizzozero NI, Calhoun VD. Components of Cross-Frequency Modulation in Health and Disease. Frontiers In Systems Neuroscience 2011, 5: 59. PMID: 21808609, PMCID: PMC3139214, DOI: 10.3389/fnsys.2011.00059.Peer-Reviewed Original ResearchHealthy controlsSchizophrenia patientsCross-frequency modulationAbnormal temporal integrationDopamine D2 receptorsHigh-frequency activityAuditory oddball taskD2 receptorsCognitive deficitsFunctional connectivityPatientsRisk allelesGenetic polymorphismsΑ2 subunitFronto-temporal electrodesOddball taskEEG recordingsDiseaseReceptorsRisk lociExploratory analysisHealthTotal numberModulationPolymorphism
2006
Mutation screen of the GAD2 gene and association study of alcoholism in three populations
Lappalainen J, Krupitsky E, Kranzler HR, Luo X, Remizov M, Pchelina S, Taraskina A, Zvartau E, Räsanen P, Makikyro T, Somberg LK, Krystal JH, Stein MB, Gelernter J. Mutation screen of the GAD2 gene and association study of alcoholism in three populations. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 183-192. PMID: 17034009, DOI: 10.1002/ajmg.b.30377.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBlack or African AmericanCase-Control StudiesDNA Mutational AnalysisExonsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic TestingGlutamate DecarboxylaseHispanic or LatinoHumansIsoenzymesLinkage DisequilibriumMaleMutationPolymorphism, Single NucleotideStudentsUnited StatesWhite PeopleConceptsSingle nucleotide polymorphismsGAD2 geneNon-synonymous polymorphismsAssociation studiesSequence variantsGamma-amino butyric acidGlutamate decarboxylase 2GenesMutation screenNucleotide polymorphismsAdditional populationsMajor enzymeG single nucleotide polymorphismPolymorphismG variantButyric acidPopulationVariantsEnzymeAdditional samplesRoleRussian malesVariationScreenDHPLC
2005
Increased dopamine transporter availability associated with the 9-repeat allele of the SLC6A3 gene.
van Dyck CH, Malison RT, Jacobsen LK, Seibyl JP, Staley JK, Laruelle M, Baldwin RM, Innis RB, Gelernter J. Increased dopamine transporter availability associated with the 9-repeat allele of the SLC6A3 gene. Journal Of Nuclear Medicine 2005, 46: 745-51. PMID: 15872345.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAgingCocaineCorpus StriatumDopamine Plasma Membrane Transport ProteinsFemaleGene FrequencyGenetic TestingHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsMicrosatellite RepeatsMiddle AgedNerve Tissue ProteinsPolymorphism, GeneticRadionuclide ImagingRadiopharmaceuticalsTissue DistributionConceptsStriatal DAT availabilityDAT availabilityDopamine transporterDAT genotypeDopamine transporter availabilityBrain uptakeTransporter availabilityHealthy European AmericansDAT levelsCarbomethoxy-3betaClinical phenotypeMean increaseNeuropsychiatric diseasesSLC6A3 polymorphismsVNTR polymorphismSLC6A3European AmericansSLC6A3 geneHomozygotesHuman clinical phenotypesSubregion analysisPolymorphismDivergent resultsAssociationCommon alleles
2004
Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1)
Hernandez-Avila CA, Covault J, Gelernter J, Kranzler HR. Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1). Psychiatric Genetics 2004, 14: 89-92. PMID: 15167694, DOI: 10.1097/01.ypg.0000107931.32051.c7.Peer-Reviewed Original ResearchConceptsMu-opioid receptor proteinΜ-opioid receptor geneSubstance-dependent subjectsAsn40Asp polymorphismSubstance dependence diagnosesHealthy subjectsAllelic associationBlood samplesDependence diagnosisDiagnostic InterviewDemographic featuresExtracellular domainFunctional polymorphismsReceptor geneReceptor extracellular domainReceptor proteinAssociationNEO-Five Factor InventorySubjectsAssociation studiesFive-Factor InventoryPolymorphismAsn40AspPersonality factorsDiagnosis
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
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms
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
1995
Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome
Gelernter J, Rao P, Pauls D, Hamblin M, Sibley D, Kidd K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome. Genomics 1995, 26: 207-209. PMID: 7601444, DOI: 10.1016/0888-7543(95)80202-w.Peer-Reviewed Original ResearchConceptsGenetic linkageSomatic cell hybridsInteresting candidate genesPairwise linkage analysisCell hybridsNovel serotonin receptorCandidate genesChromosome 10Linkage analysisSouthern blotGenesExtended pedigreesLOD scoreReceptor geneLociGenetic polymorphismsHTR7PolymorphismReceptorsLIPED computer programDNALinkageHybridizationNeuropsychiatric disordersPedigree
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
1989
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643
Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.Peer-Reviewed Original Research