Featured Publications
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations
Kranzler HR, Zhou H, Kember RL, Vickers Smith R, Justice AC, Damrauer S, Tsao PS, Klarin D, Baras A, Reid J, Overton J, Rader DJ, Cheng Z, Tate JP, Becker WC, Concato J, Xu K, Polimanti R, Zhao H, Gelernter J. Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. Nature Communications 2019, 10: 1499. PMID: 30940813, PMCID: PMC6445072, DOI: 10.1038/s41467-019-09480-8.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesMillion Veteran Program sampleGenetic correlationsWide significant lociSignificant genetic correlationsPolygenic risk scoresCell type groupSignificant lociHeritable traitEnrichment analysisTraitsMultiple populationsLociPhenotypeProgram samples
2020
Genotyping Array Design and Data Quality Control in the Million Veteran Program
Hunter-Zinck H, Shi Y, Li M, Gorman BR, Ji SG, Sun N, Webster T, Liem A, Hsieh P, Devineni P, Karnam P, Gong X, Radhakrishnan L, Schmidt J, Assimes TL, Huang J, Pan C, Humphries D, Brophy M, Moser J, Muralidhar S, Huang GD, Przygodzki R, Concato J, Gaziano JM, Gelernter J, O’Donnell C, Hauser ER, Zhao H, O’Leary T, Program V, Tsao PS, Pyarajan S. Genotyping Array Design and Data Quality Control in the Million Veteran Program. American Journal Of Human Genetics 2020, 106: 535-548. PMID: 32243820, PMCID: PMC7118558, DOI: 10.1016/j.ajhg.2020.03.004.Peer-Reviewed Original ResearchConceptsMillion Veteran ProgramGenome-wide association studiesGenome-wide scanHigh-quality genotypesArray-based genotypingWhole-genome sequencingNon-European individualsAssociation studiesGenetic markersOmics assaysAxiom arrayDownstream analysisVeteran ProgramCommon variantsGenetic associationAfrican American ancestryAmerican ancestryMVP cohortRare variantsSingle assayDiversityFurther data releasesLarge biobanksPromising resourceQuality control
2019
Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci
Gelernter J, Sun N, Polimanti R, Pietrzak RH, Levey DF, Lu Q, Hu Y, Li B, Radhakrishnan K, Aslan M, Cheung KH, Li Y, Rajeevan N, Sayward F, Harrington K, Chen Q, Cho K, Honerlaw J, Pyarajan S, Lencz T, Quaden R, Shi Y, Hunter-Zinck H, Gaziano JM, Kranzler HR, Concato J, Zhao H, Stein MB, Program D, Program M. Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci. Biological Psychiatry 2019, 86: 365-376. PMID: 31151762, PMCID: PMC6919570, DOI: 10.1016/j.biopsych.2019.03.984.Peer-Reviewed Original ResearchConceptsAdditional genome-wide significant lociRisk lociWide association study (GWAS) analysisAssociation studiesGenome-wide significant lociGenome-wide association studiesGenetic correlationsWide association studyNovel risk lociAlcohol-related traitsStrong statistical supportSmoking-related traitsAdditional genomesSignificant lociPancreatic delta cellsChromosome 4Chromosome 11Protein productsChromosome 8Quantitative phenotypesMillion Veteran ProgramVeterans Affairs Million Veteran ProgramLociCell typesChromosome 17Genomics of posttraumatic stress disorder in veterans: Methods and rationale for Veterans Affairs Cooperative Study #575B
Radhakrishnan K, Aslan M, Harrington KM, Pietrzak RH, Huang G, Muralidhar S, Cho K, Quaden R, Gagnon D, Pyarajan S, Sun N, Zhao H, Gaziano M, Concato J, Stein MB, Gelernter J. Genomics of posttraumatic stress disorder in veterans: Methods and rationale for Veterans Affairs Cooperative Study #575B. International Journal Of Methods In Psychiatric Research 2019, 28: e1767. PMID: 30767326, PMCID: PMC6877159, DOI: 10.1002/mpr.1767.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAlgorithmsCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenomicsHumansInterviews as TopicMaleMiddle AgedPolymorphism, Single NucleotidePsychiatric Status Rating ScalesStress Disorders, Post-TraumaticSurveys and QuestionnairesUnited StatesUnited States Department of Veterans AffairsVeteransYoung Adult
2018
GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability
Pasman JA, Verweij KJH, Gerring Z, Stringer S, Sanchez-Roige S, Treur JL, Abdellaoui A, Nivard MG, Baselmans BML, Ong JS, Ip HF, van der Zee MD, Bartels M, Day FR, Fontanillas P, Elson SL, the 23andMe Research Team, de Wit H, Davis LK, MacKillop J, The Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Derringer JL, Branje SJT, Hartman CA, Heath AC, van Lier PAC, Madden PAF, Mägi R, Meeus W, Montgomery GW, Oldehinkel AJ, Pausova Z, Ramos-Quiroga JA, Paus T, Ribases M, Kaprio J, Boks MPM, Bell JT, Spector TD, Gelernter J, Boomsma DI, Martin NG, MacGregor S, Perry JRB, Palmer AA, Posthuma D, Munafò MR, Gillespie NA, Derks EM, Vink JM. GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability. Nature Neuroscience 2018, 21: 1161-1170. PMID: 30150663, PMCID: PMC6386176, DOI: 10.1038/s41593-018-0206-1.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overCell Adhesion MoleculesDatabases, GeneticFemaleGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMarijuana AbuseMendelian Randomization AnalysisMental HealthMiddle AgedPolymorphism, Single NucleotideRisk-TakingSchizophreniaYoung AdultConceptsGenome-wide association studiesNew risk lociLarge genome-wide association studiesGene-based testsIndependent single nucleotide polymorphismsDifferent expression levelsSignificant genetic correlationsHealth-related traitsSingle nucleotide polymorphismsEtiology of cannabisHeritable traitRisk lociSignificant genesAssociation studiesGenetic correlationsPsychiatric traitsGenetic variantsNucleotide polymorphismsGenetic overlapExpression levelsTraitsGenesNew insightsSchizophrenia riskMendelian randomization analysis
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 Research
2016
Genome-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
2014
Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders
Kos MZ, Glahn DC, Carless MA, Olvera R, McKay DR, Quillen EE, Gelernter J, Chen X, Deng H, Kent JW, Dyer TD, Göring HH, Curran JE, Duggirala R, Blangero J, Almasy L. Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 294-302. PMID: 24692236, PMCID: PMC4172449, DOI: 10.1002/ajmg.b.32231.Peer-Reviewed Original ResearchConceptsSan Antonio Family StudyGenome-wide SNPsSignificant SNP associationsSignificant pleiotropic effectsCompelling candidate genesStrong genetic correlationPotential risk locusNovel QTLChromosome 6p22.3Significant QTLGene actionChromosome regionsChromosome 4Heritable phenotypesCandidate genesRisk lociLinkage signalChromosome 6p22QTLSNP associationsLinkage regionGenetic correlationsSusceptibility genesPleiotropic effectsGenes
2013
ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample
Quillen EE, Chen X, Almasy L, Yang F, He H, Li X, Wang X, Liu T, Hao W, Deng H, Kranzler HR, Gelernter J. ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2013, 165: 103-110. PMID: 24277619, PMCID: PMC4149216, DOI: 10.1002/ajmg.b.32213.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCandidate single nucleotide polymorphismsGenome-wide association analysisCandidate gene studiesPhenotypic variationMajor genetic determinantGWAS studiesHeritable phenotypesAldehyde dehydrogenase deficiencyGene studiesAssociation analysisRisk genesLinkage disequilibriumGenetic determinantsExtended pedigreesNucleotide polymorphismsNorthern Hunan ProvinceAD-related phenotypesPhenotypeALDH2Consumption rateCCDC63
2012
Examining the relation between the serotonin transporter 5-HTTPLR genotype x trauma exposure interaction on a contemporary phenotypic model of posttraumatic stress symptomatology: A pilot study
Pietrzak RH, Galea S, Southwick SM, Gelernter J. Examining the relation between the serotonin transporter 5-HTTPLR genotype x trauma exposure interaction on a contemporary phenotypic model of posttraumatic stress symptomatology: A pilot study. Journal Of Affective Disorders 2012, 148: 123-128. PMID: 23183127, PMCID: PMC3604029, DOI: 10.1016/j.jad.2012.11.003.Peer-Reviewed Original ResearchAdolescentAdultAgedAged, 80 and overCyclonic StormsDisastersFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedModels, GeneticPhenotypePilot ProjectsPolymorphism, GeneticQualitative ResearchSerotonin Plasma Membrane Transport ProteinsStress Disorders, Post-TraumaticYoung Adult
2010
Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD
Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han Y, Keskitalo-Vuokko K, Kong X, Landi MT, Z. J, Short SE, Stephens SH, Stevens VL, Sun L, Wang Y, Wenzlaff AS, Aggen SH, Breslau N, Broderick P, Chatterjee N, Chen J, Heath AC, Heliövaara M, Hoft NR, Hunter DJ, Jensen MK, Martin NG, Montgomery GW, Niu T, Payne TJ, Peltonen L, Pergadia ML, Rice JP, Sherva R, Spitz MR, Sun J, Wang JC, Weiss RB, Wheeler W, Witt SH, Yang BZ, Caporaso NE, Ehringer MA, Eisen T, Gapstur SM, Gelernter J, Houlston R, Kaprio J, Kendler KS, Kraft P, Leppert MF, Li MD, Madden PA, Nöthen MM, Pillai S, Rietschel M, Rujescu D, Schwartz A, Amos CI, Bierut LJ. Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD. PLOS Genetics 2010, 6: e1001053. PMID: 20700436, PMCID: PMC2916847, DOI: 10.1371/journal.pgen.1001053.Peer-Reviewed Original ResearchConceptsChronic obstructive pulmonary diseaseLung cancerNicotine dependenceSmoking behaviorSmoking quantityObstructive pulmonary diseaseSmoking-related diseasesLung cancer casesPulmonary diseaseNicotinic receptor subunit geneCOPD casesIndependent associationLung tissueCancer casesReceptor subunit genesMeta-AnalysisSignificant associationSmokingRs16969968CancerSmoking phenotypesGenetic association findingsSNP rs16969968MRNA levelsCHRNA5-CHRNA3
2009
BDNF Variants, Premorbid Educational Attainment, and Disease Characteristics in Alzheimer's Disease: An Exploratory Study
Zdanys KF, Kleiman TG, Zhang H, Ozbay F, MacAvoy MG, Gelernter J, van Dyck CH. BDNF Variants, Premorbid Educational Attainment, and Disease Characteristics in Alzheimer's Disease: An Exploratory Study. Journal Of Alzheimer's Disease 2009, 17: 887-898. PMID: 19542613, PMCID: PMC4084650, DOI: 10.3233/jad-2009-1106.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAllelesAlzheimer DiseaseBrain-Derived Neurotrophic FactorCognitionDisease ProgressionEducational StatusFemaleGene FrequencyGenetic Predisposition to DiseaseHallucinationsHumansMalePolymerase Chain ReactionPolymorphism, Single NucleotidePrevalenceRetrospective StudiesSeverity of Illness IndexConceptsBrain-derived neurotrophic factorNeuropsychiatric symptomsAlzheimer's diseaseBDNF polymorphismFunctional declineRole of BDNFMultiple subsequent time pointsVal/Val groupBDNF genetic variantsC270T polymorphismPresence of hallucinationsMet/MetSubsequent time pointsVal/MetBDNF variantsClinical courseVal66Met genotypeVal66Met polymorphismC270TDisease characteristicsNeurotrophic factorTests of cognitionNeuronal survivalAD patientsHigh prevalence
2006
Apolipoprotein E ɛ4 Allele Increases Risk for Psychotic Symptoms in Alzheimer's Disease
Zdanys KF, Kleiman TG, MacAvoy MG, Black BT, Rightmer TE, Grey M, Garman KS, Tampi RR, Gelernter J, van Dyck CH. Apolipoprotein E ɛ4 Allele Increases Risk for Psychotic Symptoms in Alzheimer's Disease. Neuropsychopharmacology 2006, 32: 171-179. PMID: 16841077, DOI: 10.1038/sj.npp.1301148.Peer-Reviewed Original ResearchConceptsAD patientsPsychotic symptomsAlzheimer's diseaseBehavioral symptomsNeuropsychiatric InventoryApolipoprotein EMultiple logistic regression modelSporadic Alzheimer's diseaseGenetic risk factorsSevere-stage Alzheimer's diseaseLogistic regression modelsDifferent risk profilesDementia progressesRisk factorsIncrease riskBehavioral disturbancesPatientsDisease severitySymptomsSignificant psychosisRisk profileGreater riskApoEExploratory analysisDisease
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
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
1997
Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease
Gelernter J, Van Dyck C, van Kammen D, Malison R, Price L, Cubells J, Berman R, Charney D, Heninger G. Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease. American Journal Of Medical Genetics 1997, 74: 497-500. PMID: 9342199, DOI: 10.1002/(sici)1096-8628(19970919)74:5<497::aid-ajmg8>3.0.co;2-l.Peer-Reviewed Original Research