Featured Publications
Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci
Deak JD, Zhou H, Galimberti M, Levey DF, Wendt FR, Sanchez-Roige S, Hatoum AS, Johnson EC, Nunez YZ, Demontis D, Børglum AD, Rajagopal VM, Jennings MV, Kember RL, Justice AC, Edenberg HJ, Agrawal A, Polimanti R, Kranzler HR, Gelernter J. Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci. Molecular Psychiatry 2022, 27: 3970-3979. PMID: 35879402, PMCID: PMC9718667, DOI: 10.1038/s41380-022-01709-1.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant risk lociAssociation studiesVariant associationsLarge-scale genome-wide association studiesGenetic correlationsSignificant risk lociPsychiatric Genomics ConsortiumMulti-trait analysisPolygenic risk score analysisSingle-variant associationsGWS lociGenetic architectureIndividuals of EuropeanGWS associationsRisk lociGene regionGenomics ConsortiumMillion Veteran ProgramSusceptibility lociAfrican ancestryLociRisk score analysisGenetic informativenessSNPs one
2021
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example
Hatoum AS, Wendt FR, Galimberti M, Polimanti R, Neale B, Kranzler HR, Gelernter J, Edenberg HJ, Agrawal A. Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. Drug And Alcohol Dependence 2021, 229: 109115. PMID: 34710714, PMCID: PMC9358969, DOI: 10.1016/j.drugalcdep.2021.109115.Peer-Reviewed Original ResearchConceptsGenome-wide significant variantsCandidate gene predictionGenetic predictionRandom SNPsPolygenic traitRandom phenotypeCandidate SNPsSimulated phenotypesPsychiatric geneticsGenetic machineSignificant variantsBinary phenotypesCandidate variantsSNPsAncestryPhenotypeAllele frequenciesVariantsMachine learning modelsGenetic testsLearning model
2019
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, Stein MB, Torres K, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Babić D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Børglum AD, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas- de- Almeida J, Dale AM, Daly MJ, Daskalakis NP, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Dzubur-Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Geuze E, Gillespie C, Uka AG, Gordon SD, Guffanti G, Hammamieh R, Harnal S, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Junglen AG, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis CE, Linnstaedt SD, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller J, Marmar C, Martin AR, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, McLeay S, Mehta D, Milberg WP, Miller MW, Morey RA, Morris CP, Mors O, Mortensen PB, Neale BM, Nelson EC, Nordentoft M, Norman SB, O’Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Ripke S, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero K, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Sumner JA, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Wolff JD, Yehuda R, Young RM, Young KA, Zhao H, Zoellner LA, Liberzon I, Ressler KJ, Haas M, Koenen KC. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nature Communications 2019, 10: 4558. PMID: 31594949, PMCID: PMC6783435, DOI: 10.1038/s41467-019-12576-w.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDisease genesAssociation studiesGenome-wide significant lociAfrican-ancestry analysesNon-coding RNAsGenetic risk lociParkinson's disease genesEuropean ancestry populationsNovel genesSignificant lociGenetic variationSpecific lociRisk lociAdditional lociLociAncestry populationsCommon variantsHeritability estimatesGenesGWASRNABiologySNPsPARK2
2018
Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2
Smith AH, Ovesen PL, Skeldal S, Yeo S, Jensen KP, Olsen D, Diazgranados N, Zhao H, Farrer LA, Goldman D, Glerup S, Kranzler HR, Nykjær A, Gelernter J. Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2. Alcohol Clinical And Experimental Research 2018, 42: 2337-2348. PMID: 30252935, PMCID: PMC6317871, DOI: 10.1111/acer.13890.Peer-Reviewed Original ResearchConceptsAlcohol withdrawalEpigenomic data setsGenome-wide association studiesWide significant findingsLife-threatening seizuresAlcohol withdrawal symptomsTop association signalsTissue-specific activityNeural lineage cellsGenetic risk factorsHarmful alcohol useAssociation signalsRegulatory elementsBioinformatics analysisStress hormone levelsAlcohol cessationChromosome 4Neurotrophic factorWithdrawal symptomsRisk factorsEthanol exposureHormone levelsAssociation studiesNervous systemAdditional genotypingBiochemical, demographic, and self-reported tobacco-related predictors of the acute heart rate response to nicotine in smokers
Jensen KP, Valentine G, Buta E, DeVito EE, Gelernter J, Sofuoglu M. Biochemical, demographic, and self-reported tobacco-related predictors of the acute heart rate response to nicotine in smokers. Pharmacology Biochemistry And Behavior 2018, 173: 36-43. PMID: 30107183, PMCID: PMC6125200, DOI: 10.1016/j.pbb.2018.08.004.Peer-Reviewed Original ResearchConceptsAcute heart rate responseHeart rate responseNicotine infusionHigher nicotine metabolite ratioTobacco harm reduction approachesRate responseGreater withdrawal symptomsNicotine metabolite ratioBlood-based biomarkersNicotine delivery systemsWarrants further investigationHarm reduction approachWithdrawal symptomsCardiovascular functionLower nicotine levelsTobacco useMetabolite ratiosNicotine levelsSmokeless productsHigher cortisolSmokersHR effectsStimulatory effectNicotineDemographic characteristics
2017
Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence
Hancock DB, Guo Y, Reginsson GW, Gaddis NC, Lutz SM, Sherva R, Loukola A, Minica CC, Markunas CA, Han Y, Young KA, Gudbjartsson DF, Gu F, McNeil DW, Qaiser B, Glasheen C, Olson S, Landi MT, Madden PAF, Farrer LA, Vink J, Saccone NL, Neale MC, Kranzler HR, McKay J, Hung RJ, Amos CI, Marazita ML, Boomsma DI, Baker TB, Gelernter J, Kaprio J, Caporaso NE, Thorgeirsson TE, Hokanson JE, Bierut LJ, Stefansson K, Johnson EO. Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence. Molecular Psychiatry 2017, 23: 1911-1919. PMID: 28972577, PMCID: PMC5882602, DOI: 10.1038/mp.2017.193.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenotype-Tissue Expression (GTEx) projectDNA methyltransferase genesAcetylcholine receptor genesNicotine dependenceMethyltransferase geneExpression projectCHRNB4 genesHeritable traitAdditional lociProxy phenotypeSequence variantsDNMT3B expressionGenesReceptor geneSquamous cell lung carcinomaCHRNA5-CHRNA3African American ancestryNovel associationsInternational Lung Cancer ConsortiumCell lung carcinomaLociAmerican ancestryAdult cerebellum
2016
Sex‐specific linkage scans in opioid dependence
Yang B, Han S, Kranzler HR, Palmer AA, Gelernter J. Sex‐specific linkage scans in opioid dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2016, 174: 261-268. PMID: 27762075, PMCID: PMC5695218, DOI: 10.1002/ajmg.b.32507.Peer-Reviewed Original ResearchAdultBlack or African AmericanBlack PeopleChromosome MappingCocaine-Related DisordersFemaleGenetic LinkageGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLod ScoreMaleMiddle AgedOpioid-Related DisordersPolymorphism, Single NucleotideRisk FactorsSex FactorsWhite People
2013
Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants
Yang C, Li C, Kranzler HR, Farrer LA, Zhao H, Gelernter J. Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants. Human Genetics 2013, 133: 617-624. PMID: 24297757, PMCID: PMC3988209, DOI: 10.1007/s00439-013-1399-8.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismBlack PeopleGenome-Wide Association StudyHumansPolymorphism, Single NucleotideConceptsSingle nucleotide polymorphismsPhenotypic varianceGenetic architectureSubset of SNPsTop single nucleotide polymorphismsKb of genesCommon variantsAD risk genesCommon single nucleotide polymorphismsGenome partitioningGenomewide association studiesPolygenic traitChromosome 4Illumina OmniAssociation studiesRisk genesGenetic variantsGenomewide setComplex psychiatric disorderGenesFunctional partitioningMultiple variantsGenetic factorsDevelopment of ADVariantsAssociation of Gamma-Aminobutyric Acid A Receptor α2 Gene (GABRA2) with Alcohol Use Disorder
Li D, Sulovari A, Cheng C, Zhao H, Kranzler HR, Gelernter J. Association of Gamma-Aminobutyric Acid A Receptor α2 Gene (GABRA2) with Alcohol Use Disorder. Neuropsychopharmacology 2013, 39: 907-918. PMID: 24136292, PMCID: PMC3924525, DOI: 10.1038/npp.2013.291.Peer-Reviewed Original ResearchConceptsReceptor geneGABA receptor genesGABAA receptor genesCandidate gene association studiesSAGE data setsBonferroni-corrected thresholdGene association studiesSingle nucleotide polymorphismsAssociation studiesGenotype dataStudy of AddictionGamma-aminobutyric acidMammalian brainGenesComplex disorderGABRA2 single nucleotide polymorphismsSubstance dependenceMajor inhibitory neurotransmitterGeneticsInhibitory neurotransmitterVariantsGABA receptorsSignificant associationSubstance abuseMethamphetamine dependence
2011
No association between ADCYAP1R1 and post-traumatic stress disorder in two independent samples
Chang SC, Xie P, Anton RF, De Vivo I, Farrer LA, Kranzler HR, Oslin D, Purcell SM, Roberts AL, Smoller JW, Uddin M, Gelernter J, Koenen KC. No association between ADCYAP1R1 and post-traumatic stress disorder in two independent samples. Molecular Psychiatry 2011, 17: 239-241. PMID: 21912390, DOI: 10.1038/mp.2011.118.Peer-Reviewed Original ResearchAdultAge FactorsAgedBlack PeopleCohort StudiesFemaleGenotypeHumansLogistic ModelsMaleMenopauseMiddle AgedPolymorphism, Single NucleotideProspective StudiesReceptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type IRiskSample SizeSelection BiasSocioeconomic FactorsStress Disorders, Post-TraumaticSubstance-Related DisordersUnited StatesWhite People
2010
Identification of population substructure among Jews using STR markers and dependence on reference populations included
Listman JB, Hasin D, Kranzler HR, Malison RT, Mutirangura A, Sughondhabirom A, Aharonovich E, Spivak B, Gelernter J. Identification of population substructure among Jews using STR markers and dependence on reference populations included. BMC Genomic Data 2010, 11: 48. PMID: 20546593, PMCID: PMC2896335, DOI: 10.1186/1471-2156-11-48.Peer-Reviewed Original ResearchConceptsAssociation studiesPopulation substructureGenetic historyPopulation genetic historyMajor continental populationsSTR markersFuture genetic studiesProportion of ancestryChromosomal dataContinental populationsMitochondrial DNAPopulation structureParental populationsMarker choiceRelated populationsGenetic signaturesGenetic studiesAutosomal STR markersGenetic componentSTR panelNon-Ashkenazi Jewish populationsAsian clusterPopulation informationFuture investigationsPopulation
2009
Measurement of admixture proportions and description of admixture structure in different U.S. populations
Halder I, Yang B, Kranzler HR, Stein MB, Shriver MD, Gelernter J. Measurement of admixture proportions and description of admixture structure in different U.S. populations. Human Mutation 2009, 30: 1299-1309. PMID: 19572378, PMCID: PMC2867064, DOI: 10.1002/humu.21045.Peer-Reviewed Original ResearchPopulation 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
Multiple OPR genes influence personality traits in substance dependent and healthy subjects in two American populations
Luo X, Zuo L, Kranzler H, Zhang H, Wang S, Gelernter J. Multiple OPR genes influence personality traits in substance dependent and healthy subjects in two American populations. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2008, 147B: 1028-1039. PMID: 18213616, PMCID: PMC3162230, DOI: 10.1002/ajmg.b.30701.Peer-Reviewed Original Research
2007
ADH7 variation modulates extraversion and conscientiousness in substance‐dependent subjects
Luo X, Kranzler HR, Zuo L, Zhang H, Wang S, Gelernter J. ADH7 variation modulates extraversion and conscientiousness in substance‐dependent subjects. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2007, 147B: 179-186. PMID: 17918242, PMCID: PMC3160628, DOI: 10.1002/ajmg.b.30589.Peer-Reviewed Original ResearchDemographic changes and marker properties affect detection of human population differentiation
Listman JB, Malison RT, Sughondhabirom A, Yang BZ, Raaum RL, Thavichachart N, Sanichwankul K, Kranzler HR, Tangwonchai S, Mutirangura A, Disotell TR, Gelernter J. Demographic changes and marker properties affect detection of human population differentiation. BMC Genomic Data 2007, 8: 21. PMID: 17498298, PMCID: PMC1876243, DOI: 10.1186/1471-2156-8-21.Peer-Reviewed Original ResearchCHRM2 variation predisposes to personality traits of agreeableness and conscientiousness
Luo X, Kranzler HR, Zuo L, Zhang H, Wang S, Gelernter J. CHRM2 variation predisposes to personality traits of agreeableness and conscientiousness. Human Molecular Genetics 2007, 16: 1557-1568. PMID: 17468496, DOI: 10.1093/hmg/ddm104.Peer-Reviewed Original Research
2006
Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations
Gelernter J, Yu Y, Weiss R, Brady K, Panhuysen C, Yang BZ, Kranzler HR, Farrer L. Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations. Human Molecular Genetics 2006, 15: 3498-3507. PMID: 17085484, DOI: 10.1093/hmg/ddl426.Peer-Reviewed Original ResearchAdultAllelesBlack or African AmericanBlack PeopleCocaine-Related DisordersFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumMaleMiddle AgedNeural Cell Adhesion MoleculesOpioid-Related DisordersPolymorphism, Single NucleotideReceptors, Dopamine D2Tobacco Use DisorderWhite PeoplePersonality Traits of Agreeableness and Extraversion are Associated with ADH4 Variation
Luo X, Kranzler HR, Zuo L, Wang S, Gelernter J. Personality Traits of Agreeableness and Extraversion are Associated with ADH4 Variation. Biological Psychiatry 2006, 61: 599-608. PMID: 17069770, PMCID: PMC1853245, DOI: 10.1016/j.biopsych.2006.05.017.Peer-Reviewed Original Research
2005
Response to Dr. Kopke's comments on haplotypes at the OPRM1 locus
Luo X, Gelernter J, Zhao H, Kranzler HR. Response to Dr. Kopke's comments on haplotypes at the OPRM1 locus. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2005, 135B: 102-102. PMID: 15806579, DOI: 10.1002/ajmg.b.30060.Peer-Reviewed Original Research