2024
A genome-wide investigation into the underlying genetic architecture of personality traits and overlap with psychopathology
Gupta P, Galimberti M, Liu Y, Beck S, Wingo A, Wingo T, Adhikari K, Kranzler H, Stein M, Gelernter J, Levey D. A genome-wide investigation into the underlying genetic architecture of personality traits and overlap with psychopathology. Nature Human Behaviour 2024, 1-15. PMID: 39134740, DOI: 10.1038/s41562-024-01951-3.Peer-Reviewed Original ResearchPersonality traitsPsychiatric traitsBidirectional effectsGenetic architectureHuman personality traitsGenetic correlation analysisGene-based association testsGenome-wide significant lociNeuroticismAgreeablenessGenome-wide association studiesGenome-wide association study meta-analysisMental illnessGenome-wide investigationAssociation TestComplex human traitsProteome-wide analysisAnxietyDepressionExtraversionConscientiousnessExpression of genesNovel lociSignificant lociTranscriptome-wide
2023
Identifying genetic loci and phenomic associations of substance use traits: A multi‐trait analysis of GWAS (MTAG) study
Xu H, Toikumo S, Crist R, Glogowska K, Jinwala Z, Deak J, Justice A, Gelernter J, Johnson E, Kranzler H, Kember R. Identifying genetic loci and phenomic associations of substance use traits: A multi‐trait analysis of GWAS (MTAG) study. Addiction 2023, 118: 1942-1952. PMID: 37156939, PMCID: PMC10754226, DOI: 10.1111/add.16229.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSignificant single nucleotide polymorphismsSubstance use traitsMulti-trait analysisAssociation studiesGenetic architectureUse traitsGenome-wide significant single nucleotide polymorphismsProtein-protein interaction analysisTrait genetic architectureNumber of lociPolygenic risk scoresEuropean ancestry individualsNovel lociSingle nucleotide polymorphismsGenetic lociGWAS studiesLociMultiple related phenotypesNucleotide polymorphismsRelated phenotypesTraitsNovel associationsMTAgBiobank samplesMulti-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program
Cheng Y, Dao C, Zhou H, Li B, Kember R, Toikumo S, Zhao H, Gelernter J, Kranzler H, Justice A, Xu K. Multi-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program. Translational Psychiatry 2023, 13: 148. PMID: 37147289, PMCID: PMC10162964, DOI: 10.1038/s41398-023-02409-2.Peer-Reviewed Original ResearchConceptsSingle-trait genome-wide association studiesGenome-wide association studiesNovel lociPower of GWASJoint genome-wide association studyGenome-wide significant lociMillion Veteran ProgramGenome-wide associationSubstance use traitsGWAS summary statisticsNovel genetic variantsMulti-trait analysisFunctional annotationUse traitsSignificant lociHeritable traitMultiple lociAssociation studiesColocalization analysisLociPleiotropic effectsMTAgVeteran ProgramGenetic variantsTraits
2022
Epigenome-wide association study of posttraumatic stress disorder identifies novel loci in U.S. military veterans
Montalvo-Ortiz JL, Gelernter J, Cheng Z, Girgenti MJ, Xu K, Zhang X, Gopalan S, Zhou H, Duman RS, Southwick SM, Krystal JH, Pietrzak R. Epigenome-wide association study of posttraumatic stress disorder identifies novel loci in U.S. military veterans. Translational Psychiatry 2022, 12: 65. PMID: 35177594, PMCID: PMC8854688, DOI: 10.1038/s41398-022-01822-3.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesAssociation studiesTranscription regulationCpG sitesGenome-wide association studiesCell type proportionsPosttraumatic stress disorderPotential epigenetic biomarkersSignificant CpG sitesEpigenetic mechanismsDNA methylationNovel lociCell signalingEpigenetic biomarkersMethylation analysisAxonal guidanceNovel molecular biomarkersEPIC BeadChipLifetime posttraumatic stress disorderMilitary veteransPostmortem brain tissueMedial orbitofrontal cortexMolecular biomarkersRegulationU.S. military veterans
2019
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
Consortium C, Lee P, Anttila V, Won H, Feng Y, Rosenthal J, Zhu Z, Tucker-Drob E, Nivard M, Grotzinger A, Posthuma D, Wang M, Yu D, Stahl E, Walters R, Anney R, Duncan L, Ge T, Adolfsson R, Banaschewski T, Belangero S, Cook E, Coppola G, Derks E, Hoekstra P, Kaprio J, Keski-Rahkonen A, Kirov G, Kranzler H, Luykx J, Rohde L, Zai C, Agerbo E, Arranz M, Asherson P, Bækvad-Hansen M, Baldursson G, Bellgrove M, Belliveau R, Buitelaar J, Burton C, Bybjerg-Grauholm J, Casas M, Cerrato F, Chambert K, Churchhouse C, Cormand B, Crosbie J, Dalsgaard S, Demontis D, Doyle A, Dumont A, Elia J, Grove J, Gudmundsson O, Haavik J, Hakonarson H, Hansen C, Hartman C, Hawi Z, Hervás A, Hougaard D, Howrigan D, Huang H, Kuntsi J, Langley K, Lesch K, Leung P, Loo S, Martin J, Martin A, McGough J, Medland S, Moran J, Mors O, Mortensen P, Oades R, Palmer D, Pedersen C, Pedersen M, Peters T, Poterba T, Poulsen J, Ramos-Quiroga J, Reif A, Ribasés M, Rothenberger A, Rovira P, Sánchez-Mora C, Satterstrom F, Schachar R, Artigas M, Steinberg S, Stefansson H, Turley P, Walters G, Team 2, Werge T, Zayats T, Arking D, Bettella F, Buxbaum J, Christensen J, Collins R, Coon H, De Rubeis S, Delorme R, Grice D, Hansen T, Holmans P, Hope S, Hultman C, Klei L, Ladd-Acosta C, Magnusson P, Nærland T, Nyegaard M, Pinto D, Qvist P, Rehnström K, Reichenberg A, Reichert J, Roeder K, Rouleau G, Saemundsen E, Sanders S, Sandin S, St Pourcain B, Stefansson K, Sutcliffe J, Talkowski M, Weiss L, Willsey A, Agartz I, Akil H, Albani D, Alda M, Als T, Anjorin A, Backlund L, Bass N, Bauer M, Baune B, Bellivier F, Bergen S, Berrettini W, Biernacka J, Blackwood D, Bøen E, Budde M, Bunney W, Burmeister M, Byerley W, Byrne E, Cichon S, Clarke T, Coleman J, Craddock N, Curtis D, Czerski P, Dale A, Dalkner N, Dannlowski U, Degenhardt F, Di Florio A, Elvsåshagen T, Etain B, Fischer S, Forstner A, Forty L, Frank J, Frye M, Fullerton J, Gade K, Gaspar H, Gershon E, Gill M, Goes F, Gordon S, Gordon-Smith K, Green M, Greenwood T, Grigoroiu-Serbanescu M, Guzman-Parra J, Hauser J, Hautzinger M, Heilbronner U, Herms S, Hoffmann P, Holland D, Jamain S, Jones I, Jones L, Kandaswamy R, Kelsoe J, Kennedy J, Joachim O, Kittel-Schneider S, Kogevinas M, Koller A, Lavebratt C, Lewis C, Li Q, Lissowska J, Loohuis L, Lucae S, Maaser A, Malt U, Martin N, Martinsson L, McElroy S, McMahon F, McQuillin A, Melle I, Metspalu A, Millischer V, Mitchell P, Montgomery G, Morken G, Morris D, Müller-Myhsok B, Mullins N, Myers R, Nievergelt C, Nordentoft M, Adolfsson A, Nöthen M, Ophoff R, Owen M, Paciga S, Pato C, Pato M, Perlis R, Perry A, Potash J, Reinbold C, Rietschel M, Rivera M, Roberson M, Schalling M, Schofield P, Schulze T, Scott L, Serretti A, Sigurdsson E, Smeland O, Stordal E, Streit F, Strohmaier J, Thorgeirsson T, Treutlein J, Turecki G, Vaaler A, Vieta E, Vincent J, Wang Y, Witt S, Zandi P, Adan R, Alfredsson L, Ando T, Aschauer H, Baker J, Bencko V, Bergen A, Birgegård A, Perica V, Brandt H, Burghardt R, Carlberg L, Cassina M, Clementi M, Courtet P, Crawford S, Crow S, Crowley J, Danner U, Davis O, Degortes D, DeSocio J, Dick D, Dina C, Docampo E, Egberts K, Ehrlich S, Espeseth T, Fernández-Aranda F, Fichter M, Foretova L, Forzan M, Gambaro G, Giegling I, Gonidakis F, Gorwood P, Mayora M, Guo Y, Halmi K, Hatzikotoulas K, Hebebrand J, Helder S, Herpertz-Dahlmann B, Herzog W, Hinney A, Imgart H, Jiménez-Murcia S, Johnson C, Jordan J, Julià A, Kaminská D, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy M, Kim Y, Klareskog L, Klump K, Knudsen G, Landén M, Le Hellard S, Levitan R, Li D, Lichtenstein P, Maj M, Marsal S, McDevitt S, Mitchell J, Monteleone P, Monteleone A, Munn-Chernoff M, Nacmias B, Navratilova M, O’Toole J, Padyukov L, Pantel J, Papezova H, Rabionet R, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Roberts M, Rujescu D, Rybakowski F, Scherag A, Schmidt U, Seitz J, Slachtova L, Landt M, Slopien A, Sorbi S, Southam L, Strober M, Tortorella A, Tozzi F, Treasure J, Tziouvas K, van Elburg A, Wade T, Wagner G, Walton E, Watson H, Wichmann H, Woodside D, Zeggini E, Zerwas S, Zipfel S, Adams M, Andlauer T, Berger K, Binder E, Boomsma D, Castelao E, Colodro-Conde L, Direk N, Docherty A, Domenici E, Domschke K, Dunn E, Foo J, de. Geus E, Grabe H, Hamilton S, Horn C, Hottenga J, Howard D, Ising M, Kloiber S, Levinson D, Lewis G, Magnusson P, Mbarek H, Middeldorp C, Mostafavi S, Nyholt D, Penninx B, Peterson R, Pistis G, Porteous D, Preisig M, Quiroz J, Schaefer C, Schulte E, Shi J, Smith D, Thomson P, Tiemeier H, Uher R, van der Auwera S, Weissman M, Alexander M, Begemann M, Bramon E, Buccola N, Cairns M, Campion D, Carr V, Cloninger C, Cohen D, Collier D, Corvin A, DeLisi L, Donohoe G, Dudbridge F, Duan J, Freedman R, Gejman P, Golimbet V, Godard S, Ehrenreich H, Hartmann A, Henskens F, Ikeda M, Iwata N, Jablensky A, Joa I, Jönsson E, Kelly B, Knight J, Konte B, Laurent-Levinson C, Lee J, Lencz T, Lerer B, Loughland C, Malhotra A, Mallet J, McDonald C, Mitjans M, Mowry B, Murphy K, Murray R, O’Neill F, Oh S, Palotie A, Pantelis C, Pulver A, Consortium P, Petryshen T, Quested D, Riley B, Sanders A, Schall U, Schwab S, Scott R, Sham P, Silverman J, Sim K, Steixner A, Tooney P, van Os J, Vawter P, Walsh D, Weiser M, Wildenauer D, Williams N, Wormley B, Consortium W, Zhang F, Androutsos C, Arnold P, Barr C, Barta C, Bey K, Bienvenu O, Black D, Brown L, Budman C, Cath D, Cheon K, Ciullo V, Coffey B, Cusi D, Davis L, Denys D, Depienne C, Dietrich A, Eapen V, Falkai P, Fernandez T, Garcia-Delgar B, Geller D, Gilbert D, Grados M, Greenberg E, Grünblatt E, Hagstrøm J, Hanna G, Hartmann A, Hedderly T, Heiman G, Heyman I, Hong H, Huang A, Huyser C, Ibanez-Gomez L, Khramtsova E, Kim Y, Kim Y, King R, Koh Y, Konstantinidis A, Kook S, Kuperman S, Leventhal B, Lochner C, Ludolph A, Madruga-Garrido M, Malaty I, Maras A, McCracken J, Meijer I, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy T, Naarden A, Nagy P, Nestadt G, Nestadt P, Nicolini H, Nurmi E, Okun M, Paschou P, Piras F, Piras F, Pittenger C, Plessen K, Richter M, Rizzo R, Robertson M, Roessner V, Ruhrmann S, Samuels J, Sandor P, Schlögelhofer M, Shin E, Singer H, Song D, Song J, Spalletta G, Stein D, Stewart S, Storch E, Stranger B, Stuhrmann M, Tarnok Z, Tischfield J, Tübing J, Visscher F, Vulink N, Wagner M, Walitza S, Wanderer S, Woods M, Worbe Y, Zai G, Zinner S, Sullivan P, Franke B, Daly M, Bulik C, McIntosh A, O’Donovan M, Zheutlin A, Andreassen O, Børglum A, Breen G, Edenberg H, Fanous A, Faraone S, Gelernter J, Mathews C, Mattheisen M, Mitchell K, Neale M, Nurnberger J, Ripke S, Santangelo S, Scharf J, Stein M, Thornton L, Walters J, Wray N, Geschwind D, Neale B, Kendler K, Smoller J. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell 2019, 179: 1469-1482.e11. PMID: 31835028, PMCID: PMC7077032, DOI: 10.1016/j.cell.2019.11.020.Peer-Reviewed Original ResearchEpigenome‐Wide DNA Methylation Association Analysis Identified Novel Loci in Peripheral Cells for Alcohol Consumption Among European American Male Veterans
Xu K, Montalvo‐Ortiz J, Zhang X, Southwick SM, Krystal JH, Pietrzak RH, Gelernter J. Epigenome‐Wide DNA Methylation Association Analysis Identified Novel Loci in Peripheral Cells for Alcohol Consumption Among European American Male Veterans. Alcohol Clinical And Experimental Research 2019, 43: 2111-2121. PMID: 31386212, PMCID: PMC9377208, DOI: 10.1111/acer.14168.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesDNA methylationCpG sitesSignificant CpG sitesHigh-density methylation arraysNovel DNA methylation sitesNew CpG sitesDNA methylation sitesEpigenome-wide DNA methylationAmino acid transportIndividual CpG sitesGene lengthPeripheral cellsNovel lociDNA sitesKEGG databaseMethylation sitesEnrichment analysisMethylation arraysAssociation studiesAssociation analysisGenesMethylationAcid transportFalse discovery rate
2017
Genome-wide association study identifies a novel locus for cannabis dependence
Agrawal A, Chou YL, Carey CE, Baranger DAA, Zhang B, Sherva R, Wetherill L, Kapoor M, Wang JC, Bertelsen S, Anokhin AP, Hesselbrock V, Kramer J, Lynskey MT, Meyers JL, Nurnberger JI, Rice JP, Tischfield J, Bierut LJ, Degenhardt L, Farrer LA, Gelernter J, Hariri AR, Heath AC, Kranzler HR, Madden PAF, Martin NG, Montgomery GW, Porjesz B, Wang T, Whitfield JB, Edenberg HJ, Foroud T, Goate AM, Bogdan R, Nelson EC. Genome-wide association study identifies a novel locus for cannabis dependence. Molecular Psychiatry 2017, 23: 1293-1302. PMID: 29112194, PMCID: PMC5938138, DOI: 10.1038/mp.2017.200.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesBlack or African AmericanCannabisCase-Control StudiesChromosomes, Human, Pair 10Cohort StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMarijuana AbuseMiddle AgedPhenotypePolymorphism, Single NucleotideWhite PeopleYoung AdultConceptsWide significant lociSingle nucleotide polymorphismsSignificant lociGenome-wide significant lociGenome-wide association study dataGenome-wide association studiesAssociation study dataCorrelated single-nucleotide polymorphismsNovel lociTranscription factorsChromosome 10Association studiesModerate heritabilityNovel regionLociBiological contributionEA college studentsMinor alleleEuropean descentH3K4me1Criterion countsHeritabilityPhenotypeEnhancerIndependent cohort
2014
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysis
2013
Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci
Gelernter J, Kranzler HR, Sherva R, Almasy L, Koesterer R, Smith AH, Anton R, Preuss UW, Ridinger M, Rujescu D, Wodarz N, Zill P, Zhao H, Farrer LA. Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. Molecular Psychiatry 2013, 19: 41-49. PMID: 24166409, PMCID: PMC4165335, DOI: 10.1038/mp.2013.145.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAlcohol DehydrogenaseAlcoholismAminopeptidasesBlack or African AmericanChromosome MappingCohort StudiesEukaryotic Initiation FactorsFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLIM Domain ProteinsMaleMicrofilament ProteinsMitochondrial ProteinsPolymorphism, Single NucleotidePsychiatric Status Rating ScalesUnited StatesVesicular Transport ProteinsWhite PeopleConceptsRisk lociGWS associationsGenome-wide significant associationGenome-wide association studiesADH gene clusterSchizophrenia risk lociNovel risk lociGene expression evidenceGene clusterExpression evidenceLocus mappingNovel lociAD GWASBiological convergenceChromosome 4Chromosome 5Same locusAD risk lociAssociation studiesEnzyme genesRisk genesLociPsychiatric traitsGenesNovel associations