2024
EXPLORING THE IMMUNOGENETIC BASIS OF POST-TRAUMATIC STRESS DISORDER
Braun A, Maihofer A, Katrinli S, Panagiotaropoulou G, Levey D, Ripke S, Gelernter J, Nievergelt C, Group P. EXPLORING THE IMMUNOGENETIC BASIS OF POST-TRAUMATIC STRESS DISORDER. European Neuropsychopharmacology 2024, 87: 4-5. DOI: 10.1016/j.euroneuro.2024.08.017.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation analysisPost-traumatic stress disorderMajor histocompatibility complexHuman leukocyte antigen imputationComplex linkage disequilibrium structureGenomes reference panelLinkage disequilibrium structureMajor histocompatibility complex class III regionRisk-conferring allelesClass III regionPsychiatric Genomics ConsortiumHuman leukocyte antigen allelesMillion Veteran ProgramDisequilibrium structureLatin American ancestryRisk lociRisk-conferring variantsCross-ancestryAssociation studiesPopulation stratificationReference panelGenetic variantsSusceptibility to post-traumatic stress disorderAmerican ancestryHuman genetics and epigenetics of alcohol use disorder
Zhou H, Gelernter J. Human genetics and epigenetics of alcohol use disorder. Journal Of Clinical Investigation 2024, 134: e172885. PMID: 39145449, PMCID: PMC11324314, DOI: 10.1172/jci172885.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesEWAS studiesPower of GWASTranscriptome-wide associationGenome-wide scanAlcohol use disorderWhole-genome sequencingDrug-gene interactionsSingle-cell sequencingAssociation studiesDownstream analysisHuman geneticsGenetic variantsEpigenetic risk factorsVariant functionEpigenetic changesSpatial transcriptomicsUse disorderEpigeneticsDisease risk predictionGenetic correlationsDiversity of populationGeneticsComplex etiologyEnvironmental factorsCross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking
Johnson E, Austin-Zimmerman I, Thorpe H, Levey D, Baranger D, Colbert S, Demontis D, Khokhar J, Davis L, Edenberg H, Di Forti M, Sanchez-Roige S, Gelernter J, Agrawal A. Cross-ancestry genetic investigation of schizophrenia, cannabis use disorder, and tobacco smoking. Neuropsychopharmacology 2024, 49: 1655-1665. PMID: 38906991, PMCID: PMC11399264, DOI: 10.1038/s41386-024-01886-3.Peer-Reviewed Original ResearchCannabis use disorderUse disorderPleiotropic lociCo-occurring substance useHeavy cannabis useInvestigation of schizophreniaSubstance use disordersGenome-wide studiesGenetic factorsMental health conditionsExecutive functionCannabis useSubstance useLead variantsSchizophreniaGenetic variantsEuropean ancestryEuropean ancestry dataRisk-takingSCZHeritable factorsCannabisDisordersTobacco smokeGenetic correlations
2023
Multi-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 variantsTraitsGenetic Decomposition of the Heritable Component of Reported Childhood Maltreatment
Kuile A, Hübel C, Cheesman R, Coleman J, Peel A, Levey D, Stein M, Gelernter J, Rayner C, Eley T, Breen G. Genetic Decomposition of the Heritable Component of Reported Childhood Maltreatment. Biological Psychiatry Global Open Science 2023, 3: 716-724. PMID: 37881567, PMCID: PMC10593925, DOI: 10.1016/j.bpsgos.2023.03.003.Peer-Reviewed Original ResearchGenetic componentGenomic structural equationGenome-wide association study summary statisticsCommon genetic variantsResidual genetic varianceGeneral risk toleranceGenetic variancePutative traitsHeritable componentBehavioral traitsGenetic correlationsTraitsGenetic variantsHeritable characteristicsHeritable factorsHeritabilityEnvironmental factorsDecades of researchGenetic influencesSummary statisticsPhenotype
2022
Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells
Lynall ME, Soskic B, Hayhurst J, Schwartzentruber J, Levey DF, Pathak GA, Polimanti R, Gelernter J, Stein MB, Trynka G, Clatworthy MR, Bullmore E. Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells. Nature Communications 2022, 13: 6102. PMID: 36243721, PMCID: PMC9569335, DOI: 10.1038/s41467-022-33885-7.Peer-Reviewed Original ResearchConceptsMultiple psychiatric disordersPsychiatric disordersPsychiatric risk variantT cellsLymphoid cellsRisk variantsImmune cell subsetsMental health disordersMultiple organ systemsAdaptive immune systemCell subsetsImmune cellsHealth disordersMyeloid cellsImmune systemBrain tissueOrgan systemsSpecific disordersDisordersPathogenesisAbnormalitiesGenetic variantsCellsCD4Variants
2021
Polygenic risk for major depression is associated with lifetime suicide attempt in US soldiers independent of personal and parental history of major depression
Stein MB, Jain S, Campbell‐Sills L, Ware EB, Choi KW, He F, Ge T, Gelernter J, Smoller JW, Kessler RC, Ursano RJ. Polygenic risk for major depression is associated with lifetime suicide attempt in US soldiers independent of personal and parental history of major depression. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2021, 186: 469-475. PMID: 34288400, PMCID: PMC8692314, DOI: 10.1002/ajmg.b.32868.Peer-Reviewed Original ResearchConceptsMajor depressive disorderLifetime suicide attemptsParental historySuicide attemptsMajor depressionMDD-PRSMultivariable modelLifetime historyMajor public health problemIncident suicide attemptsPolygenic riskPublic health problemUS Army soldiersRisk stratificationDepressive disorderPolygenic risk scoresRisk scoreSecond cohortHealth problemsCommon genetic variantsFirst cohortPersonal historyCohortGenetic variantsArmy soldiersInvestigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder
Johnson EC, Kapoor M, Hatoum AS, Zhou H, Polimanti R, Wendt FR, Walters RK, Lai D, Kember RL, Hartz S, Meyers JL, Peterson RE, Ripke S, Bigdeli TB, Fanous AH, Pato CN, Pato MT, Goate AM, Kranzler HR, O'Donovan MC, Walters JTR, Gelernter J, Edenberg HJ, Agrawal A. Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder. Psychological Medicine 2021, 53: 1196-1204. PMID: 34231451, PMCID: PMC8738774, DOI: 10.1017/s003329172100266x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant single nucleotide polymorphismsLarge-scale genome-wide association studiesSignificant single nucleotide polymorphismsIndependent genome-wide significant single nucleotide polymorphismsSignificant genetic correlationsGenomic regionsSingle nucleotide polymorphismsGene expressionGenetic covariancePleiotropic associationsAssociation studiesGenetic correlationsGenetic variantsNucleotide polymorphismsGenetic overlapDisorder-specific effectsAlcohol use disorderGenetic influencesGenesUse disordersPleiotropic effects of telomere length loci with brain morphology and brain tissue expression
Pathak GA, Wendt FR, Levey DF, Mecca AP, van Dyck CH, Gelernter J, Polimanti R. Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression. Human Molecular Genetics 2021, 30: 1360-1370. PMID: 33831179, PMCID: PMC8255129, DOI: 10.1093/hmg/ddab102.Peer-Reviewed Original ResearchConceptsMethylation expressionGenetic variantsMapping gene functionTelomere lengthChromatin associationChromatin profilesGene functionGenetic colocalizationGene mappingGenomic relationshipsNeuropsychiatric traitsPleiotropic rolesDrug-gene interactionsCertain lociBrain tissue expressionGenesLociPleiotropic effectsBrain morphology measuresNucleotide polymorphismsAncestry populationsTissue expressionPhenotypic associationsPleiotropyAncestry groupsGenome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes
Sherva R, Zhu C, Wetherill L, Edenberg HJ, Johnson E, Degenhardt L, Agrawal A, Martin NG, Nelson E, Kranzler HR, Gelernter J, Farrer LA. Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes. Exploration Of Medicine 2021, 2: 60-73. PMID: 34124712, PMCID: PMC8192073, DOI: 10.37349/emed.2021.00032.Peer-Reviewed Original ResearchCox proportional hazards regressionProportional hazards regressionAfrican AmericansDiscovery sampleSelf-reported useSubstantial morbidityHazards regressionHealth burdenIndependent cohortSubstance dependence phenotypesDependence diagnosisGenetic risk lociReplication cohortCocaine dependenceOpioidsDependence phenotypesCohortGenetic variantsTop findingsCocaineRisk lociDisorder resultsLarge percentage
2020
A large-scale genome-wide association study meta-analysis of cannabis use disorder
Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Wendt FR, Clarke TK, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu SA, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley RP, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MM, Vrieze S, Workgroup P, Walters R, Polimanti R, Johnson E, McClintick J, Hatoum A, He J, Wendt F, Zhou H, Adams M, Adkins A, Aliev F, Bacanu S, Batzler A, Bertelsen S, Biernacka J, Bigdeli T, Chen L, Clarke T, Chou Y, Degenhardt F, Docherty A, Edwards A, Fontanillas P, Foo J, Fox L, Frank J, Giegling I, Gordon S, Hack L, Hartmann A, Hartz S, Heilmann-Heimbach S, Herms S, Hodgkinson C, Hoffman P, Hottenga J, Kennedy M, Alanne-Kinnunen M, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher B, Mbarek H, McIntosh A, McQueen M, Meyers J, Milaneschi Y, Palviainen T, Pearson J, Peterson R, Ripatti S, Ryu E, Saccone N, Salvatore J, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang J, Webb B, Wedow R, Wetherill L, Wills A, Boardman J, Chen D, Choi D, Copeland W, Culverhouse R, Dahmen N, Degenhardt L, Domingue B, Elson S, Frye M, Gäbel W, Hayward C, Ising M, Keyes M, Kiefer F, Kramer J, Kuperman S, Lucae S, Lynskey M, Maier W, Mann K, Männistö S, Müller-Myhsok B, Murray A, Nurnberger J, Palotie A, Preuss U, Räikkönen K, Reynolds M, Ridinger M, Scherbaum N, Schuckit M, Soyka M, Treutlein J, Witt S, Wodarz N, Zill P, Adkins D, Boden J, Boomsma D, Bierut L, Brown S, Bucholz K, Cichon S, Costello E, de Wit H, Diazgranados N, Dick D, Eriksson J, Farrer L, Foroud T, Gillespie N, Goate A, Goldman D, Grucza R, Hancock D, Harris K, Heath A, Hesselbrock V, Hewitt J, Hopfer C, Horwood J, Iacono W, Johnson E, Kaprio J, Karpyak V, Kendler K, Kranzler H, Krauter K, Lichtenstein P, Lind P, McGue M, MacKillop J, Madden P, Maes H, Magnusson P, Martin N, Medland S, Montgomery G, Nelson E, Nöthen M, Palmer A, Pederson N, Penninx B, Porjesz B, Rice J, Rietschel M, Riley B, Rose R, Rujescu D, Shen P, Silberg J, Stallings M, Tarter R, Vanyukov M, Vrieze S, Wall T, Whitfield J, Zhao H, Neale B, Gelernter J, Edenberg H, Agrawal A, Davis L, Bogdan R, Gelernter J, Edenberg H, Stefansson K, Børglum A, Agrawal A. A large-scale genome-wide association study meta-analysis of cannabis use disorder. The Lancet Psychiatry 2020, 7: 1032-1045. PMID: 33096046, PMCID: PMC7674631, DOI: 10.1016/s2215-0366(20)30339-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenome-wide significant lociLarge-scale genome-wide association studiesGenetic correlationsChromosome 7 locusTraits of interestLarge genome-wide association studiesLinkage disequilibrium score regressionChromosome 8 locusDifferent genetic underpinningsDifferent genetic correlationsWellcome Trust Case Control ConsortiumDisequilibrium score regressionNovel genetic variantsStrong genetic componentSignificant lociGenetic lociGenetic underpinningsGenetic componentLociScore regressionGenetic variantsGenetic overlapIntegrative sequencingA genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction
Sun J, Kranzler HR, Gelernter J, Bi J. A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction. Journal Of Psychiatry And Neuroscience 2020, 45: 34-44. PMID: 31490055, PMCID: PMC6919916, DOI: 10.1503/jpn.180098.Peer-Reviewed Original ResearchConceptsGenetic lociGenome-wide association testsPhenotypic heterogeneityNew genetic lociGenetic variantsWide association studyGene-environment interplayNovel genetic variantsHigh heritability estimatesSignificant genomeReplication sampleSingle nucleotide polymorphismsGenetic variationAssociation studiesLociNucleotide polymorphismsAssociation TestHeritability estimatesGene-environment interactionsReplication resultsCluster analysisEnvironmental factorsTRAK2GenomeDiscovery phase
2019
Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans
Yang BZ, Zhou H, Cheng Z, Kranzler HR, Gelernter J. Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. Scientific Reports 2019, 9: 18070. PMID: 31792237, PMCID: PMC6889277, DOI: 10.1038/s41598-019-53560-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnalgesics, OpioidBlack or African AmericanBrainCalcium-Binding ProteinsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedOpioid-Related DisordersPolymorphism, Single NucleotideReceptors, G-Protein-CoupledReceptors, Kainic AcidSex FactorsWhite PeopleConceptsOpioid dependenceOD riskSex-different effectsSex differencesInferior olivary nucleusDSM-IV diagnosisDimorphic riskSubstantia nigraAA menOlivary nucleusFrontal cortexEuropean-American subjectsADGRV1Further studiesRiskAfrican AmericansGenetic variantsDisease enrichment analysisBrainSex interactionNominal significanceMenFirst studyPutamenLung
2018
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, Gandal M, Goldstein JI, Grasby KL, Grove J, Gudmundsson OO, Hansen CS, Hauberg ME, Hollegaard MV, Howrigan DP, Huang H, Maller JB, Martin AR, Martin NG, Moran J, Pallesen J, Palmer DS, Pedersen CB, Pedersen MG, Poterba T, Poulsen JB, Ripke S, Robinson EB, Satterstrom FK, Stefansson H, Stevens C, Turley P, Walters GB, Won H, Wright MJ, Andreassen O, Asherson P, Burton C, Boomsma D, Cormand B, Dalsgaard S, Franke B, Gelernter J, Geschwind D, Hakonarson H, Haavik J, Kranzler H, Kuntsi J, Langley K, Lesch K, Middeldorp C, Reif A, Rohde L, Roussos P, Schachar R, Sklar P, Sonuga-Barke E, Sullivan P, Thapar A, Tung J, Waldman I, Medland S, Stefansson K, Nordentoft M, Hougaard D, Werge T, Mors O, Mortensen P, Daly M, Faraone S, Børglum A, Neale B. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics 2018, 51: 63-75. PMID: 30478444, PMCID: PMC6481311, DOI: 10.1038/s41588-018-0269-7.Peer-Reviewed Original ResearchConceptsGenome-wide significant risk lociFunction intolerant genesGenome-wide associationSignificant risk lociGenome-wide significanceAttention-deficit/hyperactivity disorderCommon genetic variantsGenomic regionsIntolerant genesIndependent lociRegulatory marksHeritable traitRisk lociDeficit/hyperactivity disorderGenetic variantsGenetic overlapStudy-specific differencesLociHyperactivity disorderImportant new informationUnderlying biologyChildhood behavioral disordersVariantsStrong concordanceGWASGWAS 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 analysisGenome‐wide association meta‐analysis of age at first cannabis use
Minică CC, Verweij KJH, van der Most P, Mbarek H, Bernard M, van Eijk K, Lind PA, Liu MZ, Maciejewski DF, Palviainen T, Sánchez‐Mora C, Sherva R, Taylor M, Walters RK, Abdellaoui A, Bigdeli TB, Branje SJT, Brown SA, Casas M, Corley RP, Davey‐Smith G, Davies GE, Ehli EA, Farrer L, Fedko IO, Garcia‐Martínez I, Gordon SD, Hartman CA, Heath AC, Hickie IB, Hickman M, Hopfer CJ, Hottenga JJ, Kahn RS, Kaprio J, Korhonen T, Kranzler HR, Krauter K, van Lier P, Madden PAF, Medland SE, Neale MC, Meeus WHJ, Montgomery GW, Nolte IM, Oldehinkel AJ, Pausova Z, Ramos‐Quiroga J, Richarte V, Rose RJ, Shin J, Stallings MC, Wall TL, Ware JJ, Wright MJ, Zhao H, Koot HM, Paus T, Hewitt JK, Ribasés M, Loukola A, Boks MP, Snieder H, Munafò MR, Gelernter J, Boomsma DI, Martin NG, Gillespie NA, Vink JM, Derks EM. Genome‐wide association meta‐analysis of age at first cannabis use. Addiction 2018, 113: 2073-2086. PMID: 30003630, PMCID: PMC7087375, DOI: 10.1111/add.14368.Peer-Reviewed Original ResearchConceptsGenome-wide associationSingle nucleotide polymorphismsLinkage disequilibriumTwin-based heritabilityGene-based testsHigh linkage disequilibriumATPase geneWide associationATP2C2 geneChromosome 16Heritability analysisHeritability of ageGenetic variantsNucleotide polymorphismsDiscovery sampleHeritabilityGenesATP2C2Replication sampleEnvironmental factorsRole of calciumIdentified associationsFirst cannabis useFirst cannabisATP2B2
2017
Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior
Tielbeek JJ, Johansson A, Polderman TJC, Rautiainen MR, Jansen P, Taylor M, Tong X, Lu Q, Burt AS, Tiemeier H, Viding E, Plomin R, Martin NG, Heath AC, Madden PAF, Montgomery G, Beaver KM, Waldman I, Gelernter J, Kranzler HR, Farrer LA, Perry JRB, Munafò M, LoParo D, Paunio T, Tiihonen J, Mous SE, Pappa I, de Leeuw C, Watanabe K, Hammerschlag AR, Salvatore JE, Aliev F, Bigdeli TB, Dick D, Faraone SV, Popma A, Medland SE, Posthuma D. Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior. JAMA Psychiatry 2017, 74: 1242-1250. PMID: 28979981, PMCID: PMC6309228, DOI: 10.1001/jamapsychiatry.2017.3069.Peer-Reviewed Original ResearchConceptsNovel genetic risk variantsSingle nucleotide polymorphism-based heritabilityGenome-wide association studiesGenome-wide association dataCausal genetic variantsGenome-wide genotypesPolygenic risk score analysisGenetic architectureGenetic risk variantsInverse genetic correlationPromising lociAssociation studiesBiological pathwaysPleiotropic associationsQuantitative phenotypesGenetic correlationsPsychiatric traitsAssociation dataGenetic effectsRisk variantsRisk score analysisGenetic variantsGenetic originDiscovery sampleTraits
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 ResearchConceptsSingle 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 CRHR1 variants and posttraumatic stress symptoms in hurricane exposed adults
White S, Acierno R, Ruggiero KJ, Koenen KC, Kilpatrick DG, Galea S, Gelernter J, Williamson V, McMichael O, Vladimirov VI, Amstadter AB. Association of CRHR1 variants and posttraumatic stress symptoms in hurricane exposed adults. Journal Of Anxiety Disorders 2013, 27: 678-683. PMID: 24077033, PMCID: PMC4182958, DOI: 10.1016/j.janxdis.2013.08.003.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderPTSD symptomsHormone receptor 1 geneCorticotropin-releasing hormone receptor 1 (CRHR1) geneSingle nucleotide polymorphismsReceptor 1 geneCRHR1 variationEtiology of PTSDHPA axisAdrenal axisCRHR1 variantsPosttraumatic stress symptomsStress disorderAnxiety disordersFinal analysisSymptomsHeritable anxiety disordersEuropean-American subsampleAdultsStress symptomsCRHR1Genetic variantsMultiple testingDiagnosisDisordersGenome-wide Association Study Identifies New Susceptibility Loci for Posttraumatic Stress Disorder
Xie P, Kranzler HR, Yang C, Zhao H, Farrer LA, Gelernter J. Genome-wide Association Study Identifies New Susceptibility Loci for Posttraumatic Stress Disorder. Biological Psychiatry 2013, 74: 656-663. PMID: 23726511, PMCID: PMC3810148, DOI: 10.1016/j.biopsych.2013.04.013.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide significanceFirst intronGenome-wide association study analysisGenome-wide association analysisNew susceptibility lociCandidate gene association studiesNew susceptibility genesCommon risk allelesGene association studiesChromosome 7p12Association studiesAssociation analysisSusceptibility lociSusceptibility genesGenetic variantsNucleotide polymorphismsIntronsTLL1GenesLociRisk allelesGenetic factorsSignificant signalEuropean Americans