2017
Association Between Functional Polymorphism in Neuropeptide Y Gene Promoter rs16147 and Resilience to Traumatic Stress in US Military Veterans.
Watkins LE, Han S, Krystal JH, Southwick SM, Gelernter J, Pietrzak RH. Association Between Functional Polymorphism in Neuropeptide Y Gene Promoter rs16147 and Resilience to Traumatic Stress in US Military Veterans. The Journal Of Clinical Psychiatry 2017, 78: e1058-e1059. PMID: 29099554, DOI: 10.4088/jcp.17l11646.Peer-Reviewed Original ResearchAlcohol and nicotine codependence-associated DNA methylation changes in promoter regions of addiction-related genes
Xu H, Wang F, Kranzler HR, Gelernter J, Zhang H. Alcohol and nicotine codependence-associated DNA methylation changes in promoter regions of addiction-related genes. Scientific Reports 2017, 7: 41816. PMID: 28165486, PMCID: PMC5292964, DOI: 10.1038/srep41816.Peer-Reviewed Original Research
2016
Review: DNA methylation and alcohol use disorders: Progress and challenges
Zhang H, Gelernter J. Review: DNA methylation and alcohol use disorders: Progress and challenges. American Journal On Addictions 2016, 26: 502-515. PMID: 27759945, PMCID: PMC6003819, DOI: 10.1111/ajad.12465.Peer-Reviewed Original ResearchConceptsDNA methylation changesDNA methylationMethylation changesGenome-wide DNA methylation studyGene expressionPromoter regionGlobal DNA methylation levelsDNA methylation profilesDNA methylation studiesDNA methylation levelsWidespread DNA methylationCandidate gene studiesEpigenetic mechanismsGenetic variationConsequences of AUDMethylation profilesMethylation studiesGene studiesMethylation levelsMethylationAUD subjectsGene-environment interactionsEnvironmental factorsInteractive effectsExpression
2014
Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes
Zhang H, Wang F, Kranzler HR, Yang C, Xu H, Wang Z, Zhao H, Gelernter J. Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes. Human Genetics 2014, 133: 1093-1104. PMID: 24889829, PMCID: PMC4127343, DOI: 10.1007/s00439-014-1452-2.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociQuantitative trait lociDNA methylationTrait lociSignificant methylation quantitative trait lociSequence variantsRisk genesGene expression regulationGenome-wide association studiesGenome-wide genotype dataPromoter DNA methylationAD risk genesGene promoter regionExpression QTLsExpression regulationGenetic variationPromoter CpGsPromoter region
2013
Profiling of Childhood Adversity-Associated DNA Methylation Changes in Alcoholic Patients and Healthy Controls
Zhang H, Wang F, Kranzler HR, Zhao H, Gelernter J. Profiling of Childhood Adversity-Associated DNA Methylation Changes in Alcoholic Patients and Healthy Controls. PLOS ONE 2013, 8: e65648. PMID: 23799031, PMCID: PMC3683055, DOI: 10.1371/journal.pone.0065648.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlcoholismAldehyde DehydrogenaseAldehyde Dehydrogenase 1 FamilyBlack or African AmericanCase-Control StudiesChild AbuseCpG IslandsDNA MethylationEpigenesis, GeneticFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedNerve Tissue ProteinsNociceptin ReceptorPolymorphism, Single NucleotidePromoter Regions, GeneticReceptors, NicotinicReceptors, OpioidRetinal DehydrogenaseRGS ProteinsSequence Analysis, DNATranscription, GeneticWhite PeopleYoung AdultConceptsHealthy controlsAD patientsChildhood adversityDNA methylation changesIllumina GoldenGate methylation arrayPeripheral blood DNA methylation levelsBlood DNA methylation levelsAlcoholic patientsControl subjectsLinear regression analysisMethylation changesPatientsMethylation levelsPromoter regionEA casesBonferroni correctionRegression analysisP-valueAfrican AmericansOverall methylation levels
2012
Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence
Zhang H, Herman AI, Kranzler HR, Anton RF, Simen AA, Gelernter J. Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence. Journal Of Human Genetics 2012, 57: 670-675. PMID: 22914673, PMCID: PMC3481015, DOI: 10.1038/jhg.2012.98.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismCase-Control StudiesCocaine-Related DisordersComorbidityCpG IslandsDNA MethylationFemaleGenetic Predisposition to DiseaseGenetics, PopulationGenome, HumanHumansMaleMarijuana AbuseMiddle AgedMultivariate AnalysisPromoter Regions, GeneticReceptors, Opioid, muRisk FactorsSequence Analysis, DNAWhite PeopleConceptsChildhood adversityOPRM1 promoter regionAD casesΜ-opioid receptor geneSubstance dependence disordersΜ-opioid receptorDays of intoxicationEffects of alcoholEuropean American controlsPromoter methylation levelsPeripheral bloodMethylation levelsDependence disordersAlcohol dependenceMultivariate analysisPromoter regionPromoter hypermethylationReceptor geneIllicit drugsEuropean AmericansMultiple comparisonsBisulfite sequencing analysisOverall methylation levelsAmerican controlsSex
2010
Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region
Zhang H, Gelernter J, Gruen JR, Kranzler HR, Herman AI, Simen AA. Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region. Journal Of Human Genetics 2010, 55: 278-284. PMID: 20300121, PMCID: PMC2876206, DOI: 10.1038/jhg.2010.22.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCell LineElectrophoretic Mobility Shift AssayGene Expression RegulationHumansLuciferasesNuclear ProteinsOligonucleotide ProbesPolymorphism, Single NucleotidePromoter Regions, GeneticProtein BindingReceptors, Opioid, deltaRecombinant Fusion ProteinsTranscription FactorsTransfectionConceptsMinor G alleleG alleleΔ-opioid receptorsSubstances of abuseDual-luciferase reporterOpioid dependenceBrain nuclear proteinsGreater expression levelsA alleleLuciferase reporterRenilla luciferase vectorsSingle nucleotide polymorphismsLuciferase reporter vectorExpression levelsPromoter regionHEK293 cellsLuciferase vectorFunctional impactLuciferase expressionFunctional significanceExpressionRenilla luciferase expressionReporter vectorTranscription factors
2009
Genetics of alcohol dependence
Gelernter J, Kranzler HR. Genetics of alcohol dependence. Human Genetics 2009, 126: 91-99. PMID: 19533172, PMCID: PMC3773848, DOI: 10.1007/s00439-009-0701-2.Peer-Reviewed Original ResearchTwenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity
Hirunsatit R, George ED, Lipska BK, Elwafi HM, Sander L, Yrigollen CM, Gelernter J, Grigorenko EL, Lappalainen J, Mane S, Nairn AC, Kleinman JE, Simen AA. Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Pharmacogenetics And Genomics 2009, 19: 53-65. PMID: 19077666, PMCID: PMC2791799, DOI: 10.1097/fpc.0b013e328318b21a.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAnimalsBase SequenceBlack or African AmericanCase-Control StudiesCell LineDNA PrimersEnhancer Elements, GeneticFemaleGABA Plasma Membrane Transport ProteinsGene ExpressionHippocampusHumansMaleMiceMiddle AgedMinisatellite RepeatsMolecular Sequence DataMutagenesis, InsertionalPharmacogeneticsPolymorphism, GeneticPromoter Regions, GeneticRecombinant ProteinsRNA, MessengerSchizophreniaSequence Homology, Nucleic AcidTranscriptional ActivationYoung Adult
2007
Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research
Hirunsatit R, Ilomäki R, Malison R, Räsänen P, Ilomäki E, Kranzler HR, Kosten T, Sughondhabirom A, Thavichachart N, Tangwongchai S, Listman J, Mutirangura A, Gelernter J, Lappalainen J. Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research. BMC Genomic Data 2007, 8: 71. PMID: 17941974, PMCID: PMC2175509, DOI: 10.1186/1471-2156-8-71.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAsian PeopleBlack or African AmericanFinlandGABA Plasma Membrane Transport ProteinsGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansLinkage DisequilibriumPharmacogeneticsPolymorphism, Single NucleotidePromoter Regions, GeneticRecombination, GeneticSequence Analysis, DNAThailandWhite PeopleConceptsLinkage disequilibriumGenetic diversityVariable number tandem repeatHigh genetic diversityPopulation-specific variantsTransporter 1 geneProblematic genesRecombination hotspotsGenetic variationSequence variationContinental groupsIntronic regionsGenetic studiesLD blocksTandem repeatsNumber tandem repeatGAT-1 functionCandidate allelesLD patternsPopulation differencesNovel targetTag SNPsSuch variantsGenesTransporter 1
2006
Association study of the CNR1 gene exon 3 alternative promoter region polymorphisms and substance dependence
Herman AI, Kranzler HR, Cubells JF, Gelernter J, Covault J. Association study of the CNR1 gene exon 3 alternative promoter region polymorphisms and substance dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 141B: 499-503. PMID: 16741937, PMCID: PMC2574012, DOI: 10.1002/ajmg.b.30325.Peer-Reviewed Original ResearchSerotonin transporter gene promoter polymorphism predicts SSRI response in generalized social anxiety disorder
Stein MB, Seedat S, Gelernter J. Serotonin transporter gene promoter polymorphism predicts SSRI response in generalized social anxiety disorder. Psychopharmacology 2006, 187: 68-72. PMID: 16525856, DOI: 10.1007/s00213-006-0349-8.Peer-Reviewed Original Research
2005
ADH4 Gene Variation is Associated with Alcohol Dependence and Drug Dependence in European Americans: Results from HWD Tests and Case–Control Association Studies
Luo X, Kranzler HR, Zuo L, Lappalainen J, Yang BZ, Gelernter J. ADH4 Gene Variation is Associated with Alcohol Dependence and Drug Dependence in European Americans: Results from HWD Tests and Case–Control Association Studies. Neuropsychopharmacology 2005, 31: 1085-1095. PMID: 16237392, DOI: 10.1038/sj.npp.1300925.Peer-Reviewed Original ResearchAdultAlcohol DehydrogenaseAlcohol-Induced Disorders, Nervous SystemAlcoholismAmericasDNA Mutational AnalysisEuropeFemaleGenes, RecessiveGenetic MarkersGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHaplotypesHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotidePromoter Regions, GeneticSubstance-Related DisordersWhite People
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
Family‐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
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 regionDRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects
Gelernter J, Kranzler H, Cubells JF, Ichinose H, Nagatsu T. DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects. Genomics 1998, 51: 21-26. PMID: 9693029, DOI: 10.1006/geno.1998.5264.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumFunctional variantsSignificant linkage disequilibriumMutational analysis studiesFirst intronKb 5Linkage disequilibriaFrequencies of haplotypesPopulation stratificationGenetic associationDrd2 promoterPhysiological basisAllele frequenciesPhysiological relationshipGenesReceptor allelesEuropean-American subjectsD2 dopamine receptor (DRD2) allelesDisequilibriumBehavioral phenotypesPhenotypeFunctional meaningEuropean originVariantsAmerican population