Featured Publications
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program
Stein MB, Levey DF, Cheng Z, Wendt FR, Harrington K, Pathak GA, Cho K, Quaden R, Radhakrishnan K, Girgenti MJ, Ho YA, Posner D, Aslan M, Duman RS, Zhao H, Polimanti R, Concato J, Gelernter J. Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program. Nature Genetics 2021, 53: 174-184. PMID: 33510476, PMCID: PMC7972521, DOI: 10.1038/s41588-020-00767-x.Peer-Reviewed Original ResearchConceptsGenome-wide association analysisAssociation analysisMillion Veteran ProgramGenomic structural equation modelingSignificant lociGenetic varianceGene expressionDrug repositioning candidatesBiological coherenceVeteran ProgramMultiple testing correctionSymptom phenotypeLociRepositioning candidatesAfrican ancestryHeritabilityPhenotypeAncestryExpressionPTSD symptom factorsRegionSubdomainsEnrichment
2022
Exploring the genetic overlap between twelve psychiatric disorders
Romero C, Werme J, Jansen P, Gelernter J, Stein M, Levey D, Polimanti R, de Leeuw C, Posthuma D, Nagel M, van der Sluis S. Exploring the genetic overlap between twelve psychiatric disorders. Nature Genetics 2022, 54: 1795-1802. PMID: 36471075, DOI: 10.1038/s41588-022-01245-2.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPleiotropic single nucleotide polymorphismsPositive genetic correlationStringent P-value thresholdGenetic architectureGenomic regionsGenetic covarianceBiological processesBiological pathwaysMolecular characterizationObserved phenotypicGenetic correlationsGenetic overlapBiological characterizationBiological mechanismsP-value thresholdOnly annotationGenesPleiotropicPairwise comparisonsPhenotypicPathwayAnnotationPolymorphismCharacterizationGenetic 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 variantsCellsCD4VariantsSex-Specific Genetic and Transcriptomic Liability to Neuroticism
Wendt FR, Pathak GA, Singh K, Stein MB, Koenen KC, Krystal JH, Gelernter J, Davis LK, Polimanti R. Sex-Specific Genetic and Transcriptomic Liability to Neuroticism. Biological Psychiatry 2022, 93: 243-252. PMID: 36244801, PMCID: PMC10508260, DOI: 10.1016/j.biopsych.2022.07.019.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptomic profilesAssociation studiesSingle nucleotide polymorphism heritabilityGene expression variationGenome-wide significanceSex-specific geneticChromosomal variationTranscriptomic changesRisk lociExpression variationBiological processesMolecular pathwaysLociPolygenic associationSex-specific effectsGenetic correlatesPolygenic scoresUK BiobankGenetic riskNCOA6GeneticsHeritabilityPathwayFemales
2021
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, Hafferty JD, Hishimoto A, Kim M, Okazaki S, Otsuka I, Ripke S, Ware EB, Bergen AW, Berrettini WH, Bohus M, Brandt H, Chang X, Chen WJ, Chen HC, Crawford S, Crow S, DiBlasi E, Duriez P, Fernández-Aranda F, Fichter MM, Gallinger S, Glatt SJ, Gorwood P, Guo Y, Hakonarson H, Halmi KA, Hwu HG, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Klump KL, Li D, Liao SC, Lieb K, Lilenfeld L, Liu CM, Magistretti PJ, Marshall CR, Mitchell JE, Monson ET, Myers RM, Pinto D, Powers A, Ramoz N, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Strober M, Thornton LM, Treasure J, Tsuang MT, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Air TM, Alda M, Alfredsson L, Andreassen OA, Anjorin A, Appadurai V, Artigas M, Van der Auwera S, Azevedo MH, Bass N, Bau CHD, Baune BT, Bellivier F, Berger K, Biernacka JM, Bigdeli TB, Binder EB, Boehnke M, Boks MP, Bosch R, Braff DL, Bryant R, Budde M, Byrne EM, Cahn W, Casas M, Castelao E, Cervilla JA, Chaumette B, Cichon S, Corvin A, Craddock N, Craig D, Degenhardt F, Djurovic S, Edenberg HJ, Fanous AH, Foo JC, Forstner AJ, Frye M, Fullerton JM, Gatt JM, Gejman PV, Giegling I, Grabe HJ, Green MJ, Grevet EH, Grigoroiu-Serbanescu M, Gutierrez B, Guzman-Parra J, Hamilton SP, Hamshere ML, Hartmann A, Hauser J, Heilmann-Heimbach S, Hoffmann P, Ising M, Jones I, Jones LA, Jonsson L, Kahn RS, Kelsoe JR, Kendler KS, Kloiber S, Koenen KC, Kogevinas M, Konte B, Krebs MO, Landén M, Lawrence J, Leboyer M, Lee PH, Levinson DF, Liao C, Lissowska J, Lucae S, Mayoral F, McElroy SL, McGrath P, McGuffin P, McQuillin A, Medland SE, Mehta D, Melle I, Milaneschi Y, Mitchell PB, Molina E, Morken G, Mortensen PB, Müller-Myhsok B, Nievergelt C, Nimgaonkar V, Nöthen MM, O’Donovan M, Ophoff RA, Owen MJ, Pato C, Pato MT, Penninx BWJH, Pimm J, Pistis G, Potash JB, Power RA, Preisig M, Quested D, Ramos-Quiroga JA, Reif A, Ribasés M, Richarte V, Rietschel M, Rivera M, Roberts A, Roberts G, Rouleau GA, Rovaris DL, Rujescu D, Sánchez-Mora C, Sanders AR, Schofield PR, Schulze TG, Scott LJ, Serretti A, Shi J, Shyn SI, Sirignano L, Sklar P, Smeland OB, Smoller JW, Sonuga-Barke EJS, Spalletta G, Strauss JS, Świątkowska B, Trzaskowski M, Turecki G, Vilar-Ribó L, Vincent JB, Völzke H, Walters JTR, Weickert C, Weickert TW, Weissman MM, Williams LM, Wray NR, Zai CC, Ashley-Koch AE, Beckham JC, Hauser ER, Hauser MA, Kimbrel NA, Lindquist JH, McMahon B, Oslin DW, Qin X, Agerbo E, Børglum A, Breen G, Erlangsen A, Esko T, Gelernter J, Hougaard D, Kessler R, Kranzler H, Li Y, Martin N, McIntosh A, Mors O, Nordentoft M, Olsen C, Porteous D, Ursano R, Wasserman D, Werge T, Whiteman D, Bulik C, Coon H, Demontis D, Docherty A, Kuo P, Lewis G, Mann J, Rentería M, Smith D, Stahl E, Stein D, Streit F, Willour V, Ruderfer D, Wray N, Ripke S, Mattheisen M, Trzaskowski M, Byrne E, Abdellaoui A, Adams M, Agerbo E, Air T, Andlauer T, Bacanu S, Bækvad-Hansen M, Beekman A, Bigdeli T, Binder E, Bryois J, Buttenschøn H, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen J, Clarke T, Coleman J, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford G, Davies G, Degenhardt F, Derks E, Direk N, Dolan C, Dunn E, Eley T, Escott-Price V, Kiadeh F, Finucane H, Foo J, Forstner A, Frank J, Gaspar H, Gill M, Goes F, Gordon S, Weinsheimer S, Wellmann J, Willemsen G, Witt S, Wu Y, Xi H, Yang J, Zhang F, Arolt V, Baune B, Berger K, Boomsma D, Cichon S, Dannlowski U, de Geus E, Depaulo J, Domenici E, Domschke K, Esko T, Grabe H, Hamilton S, Grove J, Hall L, Hansen C, Hansen T, Herms S, Hickie I, Hoffmann P, Homuth G, Horn C, Hottenga J, Hougaard D, Howard D, Ising M, Jansen R, Jones I, Jones L, Jorgenson E, Knowles J, Kohane I, Kraft J, Kretzschmar W, Kutalik Z, Li Q, Lind P, MacIntyre D, MacKinnon D, Maier R, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland S, Mehta D, Middeldorp C, Mihailov E, Milaneschi Y, Milani L, Mondimore F, Montgomery G, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard M, Nyholt D, O’Reilly P, Oskarsson H, Hayward C, Heath A, Kendler K, Kloiber S, Lewis C, Li D, Lucae S, Madden P, Magnusson P, Martin N, McIntosh A, Metspalu A, Mors O, Mortensen P, Müller-Myhsok B, Nordentoft M, Nöthen M, O’Donovan M, Paciga S, Pedersen N, Owen M, Painter J, Pedersen C, Pedersen M, Peterson R, Peyrot W, Pistis G, Posthuma D, Quiroz J, Qvist P, Rice J, Riley B, Rivera M, Mirza S, Schoevers R, Schulte E, Shen L, Shi J, Shyn S, Sigurdsson E, Sinnamon G, Smit J, Smith D, Stefansson H, Steinberg S, Streit F, Strohmaier J, Tansey K, Teismann H, Teumer A, Thompson W, Thomson P, Thorgeirsson T, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden A, Umbricht D, Van der Auwera S, van Hemert A, Viktorin A, Visscher P, Wang Y, Webb B, Penninx B, Perlis R, Porteous D, Potash J, Preisig M, Rietschel M, Schaefer C, Schulze T, Smoller J, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman M, Werge T, Lewis C, Levinson D, Breen G, Børglum A, Sullivan P, Mullins N, Forstner A, O’Connell K, Coombes B, Coleman J, Qiao Z, Als T, Bigdeli T, Børte S, Bryois J, Charney A, Drange O, Gandal M, Hagenaars S, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder B, Sloofman L, Steinberg S, Trubetskoy V, Winsvold B, Won H, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek J, Bækvad-Hansen M, Bass N, Bauer M, Beins E, Bergen S, Birner A, Pedersen C, Bøen E, Boks M, Bosch R, Brum M, Brumpton B, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke T, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski P, Dale A, Dalkner N, David F, Degenhardt F, Djurovic S, Dobbyn A, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier I, Fiorentino A, Foroud T, Forty L, Frank J, Frei O, Freimer N, Frisén L, Gade K, Garnham J, Gelernter J, Pedersen M, Gizer I, Gordon S, Gordon-Smith K, Greenwood T, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans P, Huckins L, Jamain S, Johnson J, Kalman J, Kamatani Y, Kennedy J, Kittel-Schneider S, Knowles J, Kogevinas M, Koromina M, Kranz T, Kranzler H, Kubo M, Kupka R, Kushner S, Lavebratt C, Lawrence J, Leber M, Lee H, Lee P, Levy S, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre D, Magnusson S, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McGregor N, McGuffin P, McKay J, Medeiros H, Medland S, Millischer V, Montgomery G, Moran J, Morris D, Mühleisen T, O’Brien N, O’Donovan C, Loohuis L, Oruc L, Papiol S, Pardiñas A, Perry A, Pfennig A, Porichi E, Potash J, Quested D, Raj T, Rapaport M, DePaulo J, Regeer E, Rice J, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer D, Sánchez-Mora C, Schulte E, Senner F, Sharp S, Shilling P, Sigurdsson E, Sirignano L, Slaney C, Smeland O, Smith D, Sobell J, Hansen C, Artigas M, Spijker A, Stein M, Strauss J, Świątkowska B, Terao C, Thorgeirsson T, Toma C, Tooney P, Tsermpini E, Vawter P, Vedder H, Walters J, Witt S, Xi S, Xu W, Yang J, Young A, Young H, Zandi P, Zhou H, Zillich L, Psychiatry H, Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune B, Bellivier F, Bengesser S, Berrettini W, Blackwood D, Boehnke M, Børglum A, Breen G, Carr V, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton J, Gawlik M, Gershon E, Goes F, Green M, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong K, Hougaard D, Hultman C, Hveem K, Iwata N, Jablensky A, Jones I, Jones L, Kahn R, Kelsoe J, Kirov G, Landén M, Leboyer M, Lewis C, Li Q, Lissowska J, Lochner C, Loughland C, Martin N, Mathews C, Mayoral F, McElroy S, McIntosh A, McMahon F, Melle I, Michie P, Milani L, Mitchell P, Morken G, Mors O, Mortensen P, Mowry B, Müller-Myhsok B, Myers R, Neale B, Nievergelt C, Nordentoft M, Nöthen M, O’Donovan M, Oedegaard K, Olsson T, Owen M, Paciga S, Pantelis C, Pato C, Pato M, Patrinos G, Perlis R, Posthuma D, Ramos-Quiroga J, Reif A, Reininghaus E, Ribasés M, Rietschel M, Ripke S, Rouleau G, Saito T, Schall U, Schalling M, Schofield P, Schulze T, Scott L, Scott R, Serretti A, Weickert C, Smoller J, Stefansson H, Stefansson K, Stordal E, Streit F, Sullivan P, Turecki G, Vaaler A, Vieta E, Vincent J, Waldman I, Weickert T, Werge T, Wray N, Zwart J, Biernacka J, Nurnberger J, Cichon S, Edenberg H, Stahl E, McQuillin A, Di Florio A, Ophoff R, Andreassen O, Adan R, Alfredsson L, Ando T, Andreassen O, Aschauer H, Baker J, Bencko V, Bergen A, Berrettini W, Birgegård A, Boden J, Boehm I, Boni C, Perica V, Brandt H, Breen G, Bryois J, Buehren K, Bulik C, Burghardt R, Carlberg L, Cassina M, Cichon S, Clementi M, Coleman J, Cone R, Courtet P, Crawford S, Crow S, Crowley J, Danner U, Davis O, de Zwaan M, Dedoussis G, Degortes D, DeSocio J, Dick D, Dikeos D, Dina C, Dmitrzak-Weglarz M, Martinez E, Duncan L, Egberts K, Marshall C, Martin N, Mattheisen M, Mattingsdal M, McDevitt S, McGuffin P, Medland S, Metspalu A, Meulenbelt I, Micali N, Mitchell J, Mitchell K, Monteleone P, Monteleone A, Montgomery G, Mortensen P, Munn-Chernoff M, Nacmias B, Navratilova M, Ntalla I, Olsen M, Ophoff R, O’Toole J, Padyukov L, Palotie A, Pantel J, Papezova H, Parker R, Pearson J, Pedersen N, Ehrlich S, Escaramís G, Esko T, Espeseth T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter M, Fischer K, Floyd J, Föcker M, Foretova L, Forstner A, Forzan M, Franklin C, Gallinger S, Gambaro G, Gaspar H, Giegling I, Giuranna J, Giusti-Rodríquez P, Gonidakis F, Gordon S, Gorwood P, Mayora M, Grove J, Guillaume S, Guo Y, Hakonarson H, Halmi K, Hanscombe K, Hatzikotoulas K, Hauser E, Hebebrand J, Helder S, Henders A, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Horwood L, Hübel C, Petersen L, Pinto D, Purves K, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ripke S, Ritschel F, Roberts M, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer S, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Landt M, Slopien A, Soranzo N, Sorbi S, Southam L, Steen V, Strober M, Huckins L, Hudson J, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Johnson C, Jordan J, Julià A, Kalsi G, Kaminská D, Kaplan A, Kaprio J, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy M, Kennedy M, Keski-Rahkonen A, Kiezebrink K, Kim Y, Kirk K, Klareskog L, Klump K, Knudsen G, Landén M, Larsen J, Le Hellard S, Leppä V, Li D, Lichtenstein P, Lilenfeld L, Lin B, Lissowska J, Lundervold A, Luykx J, Magistretti P, Maj M, Mannik K, Marsal S, Stuber G, Sullivan P, Świątkowska B, Szatkiewicz J, Tachmazidou I, Tenconi E, Thornton L, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg A, van Furth E, Wade T, Wagner G, Walton E, Watson H, Werge T, Whiteman D, Wichmann H, Widen E, Woodside D, Yao S, Yilmaz Z, Zeggini E, Zerwas S, Zipfel S, Witt S, Streit F, Jungkunz M, Frank J, Awasthi S, Treutlein J, Dietl L, Schwarze C, Dahmen N, Schott B, Nöthen M, Ripke S, Mobascher A, Rujescu D, Lieb K, Roepke S, Schmahl C, Bohus M, Rietschel M, Crivelli S, Dennis M, Harvey P, Carter B, Huffman J, Jacobson D, Madduri R, Olsen C, Pestian J, Gaziano J, Muralidhar S, Ramoni R, Beckham J, Chang K, O’Donnell C, Tsao P, Breeling J, Huang G, Romero J, Muralidhar S, Moser J, Whitbourne S, Brewer J, Aslan M, Connor T, Argyres D, Tsao P, Gaziano J, Stephens B, Brophy M, Humphries D, Selva L, Do N, Shayan S, Cho K, O’Donnell C, O’Donnell C, Pyarajan S, Tsao P, Cho K, Pyarajan S, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Zablocki C, Whittle J, Jacono F, Beckham J, Gutierrez S, Gibson G, Hammer K, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Mathew R, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Ivins D, Mastorides S, Moorman J, Gappy S, Klein J, Ratcliffe N, Florez H, Okusaga O, Murdoch M, Sriram P, Yeh S, Tandon N, Jhala D, Aguayo S, Cohen D, Sharma S, Liangpunsakul S, Oursler K, Whooley M, Ahuja S, Constans J, Meyer P, Greco J, Rauchman M, Servatius R, Gaddy M, Wallbom A, Morgan T, Stapley T, Sherman S, Ross G, Tsao P, Strollo P, Boyko E, Meyer L, Gupta S, Huq M, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biological Psychiatry 2021, 91: 313-327. PMID: 34861974, PMCID: PMC8851871, DOI: 10.1016/j.biopsych.2021.05.029.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic architecturePsychiatric disordersGenetic correlationsRisk factorsGenome-wide significanceDivergent genetic architecturesGWAS summary statisticsShared genetic architectureStrong genetic correlationIntergenic lociSuicide attemptsReproductive traitsKnown Risk FactorsRisk lociPoor general healthChromosome 7Association studiesRelated psychiatric disordersMillion Veteran ProgramSuicide attempt casesLow socioeconomic statusLociNonfatal suicide attemptsGenetic effects
2020
Multivariate genome-wide analysis of education, socioeconomic status and brain phenome
Wendt FR, Pathak GA, Lencz T, Krystal JH, Gelernter J, Polimanti R. Multivariate genome-wide analysis of education, socioeconomic status and brain phenome. Nature Human Behaviour 2020, 5: 482-496. PMID: 33349686, PMCID: PMC8068566, DOI: 10.1038/s41562-020-00980-y.Peer-Reviewed Original ResearchMeSH KeywordsEducational StatusGenome-Wide Association StudyHumansIntelligenceMental DisordersPsychopathologyRisk FactorsSocial ClassConceptsPsychosocial factorsSocioeconomic statusPsychiatric disordersBipolar disorderGenetic riskNeuronal cell typesMajor depressionTourette syndromeBrain morphologyDisordersImaging phenotypesCell typesRisky behaviorsPsychopathologyGenetic overlapRiskGenetic discoveriesPsychiatric traitsStatusSyndromeCharacterizing the effect of background selection on the polygenicity of brain-related traits
Wendt FR, Pathak GA, Overstreet C, Tylee DS, Gelernter J, Atkinson EG, Polimanti R. Characterizing the effect of background selection on the polygenicity of brain-related traits. Genomics 2020, 113: 111-119. PMID: 33278486, PMCID: PMC7855394, DOI: 10.1016/j.ygeno.2020.11.032.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesBrain-related traitsGWAS of schizophreniaTrait-associated lociLocus effect sizesSubset of traitsGenotype networksGenetic architectureIntolerant regionsBrain-related phenotypesBackground selectionNatural selectionEvolutionary pressurePositive selectionSNP heritabilityLocal ancestryAssociation studiesTraitsFunctional significanceLociPolygenicityBinary annotationPhenotypeRisk allelesSize variance
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 Research
2018
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
Walters RK, Polimanti R, Johnson EC, McClintick JN, Adams MJ, Adkins AE, Aliev F, Bacanu SA, Batzler A, Bertelsen S, Biernacka JM, Bigdeli TB, Chen LS, Clarke TK, Chou YL, Degenhardt F, Docherty AR, Edwards AC, Fontanillas P, Foo JC, Fox L, Frank J, Giegling I, Gordon S, Hack LM, Hartmann AM, Hartz SM, Heilmann-Heimbach S, Herms S, Hodgkinson C, Hoffmann P, Jan Hottenga J, Kennedy MA, Alanne-Kinnunen M, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher BS, Mbarek H, McIntosh AM, McQueen MB, Meyers JL, Milaneschi Y, Palviainen T, Pearson JF, Peterson RE, Ripatti S, Ryu E, Saccone NL, Salvatore JE, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang JC, Webb BT, Wedow R, Wetherill L, Wills AG, 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, Pedersen 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. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. Nature Neuroscience 2018, 21: 1656-1669. PMID: 30482948, PMCID: PMC6430207, DOI: 10.1038/s41593-018-0275-1.Peer-Reviewed Original ResearchConceptsGenetic underpinningsGenome-wide association studiesGenome-wide dataLarge genome-wide association studiesGenome-wide significant effectComplex polygenic architectureSignificant genetic correlationsPolygenic architectureGenetic distinctionCommon genetic underpinningsAssociation studiesGenetic relationshipsGenetic correlationsGenetic ancestryFamily-based studyUse of cigarettesAttention deficit hyperactivity disorderGenetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls
Pettersson E, Lichtenstein P, Larsson H, Song J, Agrawal A, Børglum A, Bulik C, Daly M, Davis L, Demontis D, Edenberg H, Grove J, Gelernter J, Neale B, Pardiñas A, Stahl E, Walters J, Walters R, Sullivan P, Posthuma D, Polderman T. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine 2018, 49: 1166-1173. PMID: 30221610, PMCID: PMC6421104, DOI: 10.1017/s0033291718002039.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismAnorexia NervosaAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderBipolar DisorderCase-Control StudiesCohort StudiesDepressive Disorder, MajorFamilyFemaleGene-Environment InteractionGenotypeHumansMaleMental DisordersObsessive-Compulsive DisorderQuantitative Trait, HeritableSchizophreniaSchizophrenic PsychologySiblingsSwedenLocal adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2017
Psychiatric Genomics: An Update and an Agenda
Sullivan PF, Agrawal A, Bulik CM, Andreassen OA, Børglum AD, Breen G, Cichon S, Edenberg HJ, Faraone SV, Gelernter J, Mathews CA, Nievergelt CM, Smoller JW, O'Donovan MC. Psychiatric Genomics: An Update and an Agenda. American Journal Of Psychiatry 2017, 175: 15-27. PMID: 28969442, PMCID: PMC5756100, DOI: 10.1176/appi.ajp.2017.17030283.Peer-Reviewed Original Research
2016
Alcohol Misuse and Co‐Occurring Mental Disorders Among New Soldiers in the U.S. Army
Stein MB, Campbell‐Sills L, Gelernter J, He F, Heeringa SG, Nock MK, Sampson NA, Sun X, Jain S, Kessler RC, Ursano RJ, Collaborators S. Alcohol Misuse and Co‐Occurring Mental Disorders Among New Soldiers in the U.S. Army. Alcohol Clinical And Experimental Research 2016, 41: 139-148. PMID: 27883222, PMCID: PMC5205544, DOI: 10.1111/acer.13269.Peer-Reviewed Original ResearchConceptsAlcohol use disorderBinge drinkingAlcohol misuseMental disordersHeavy drinkingAdverse outcomesAssociation of AUDSuicidal ideationProbable alcohol use disorderOnset of AUDSubstance abuse/dependencePrior alcohol use disordersPrior mental disordersLifetime alcohol use disorderStrong bidirectional associationLifetime alcohol consumptionAbuse/dependenceCohort of soldiersBasic combat trainingDiscrete-time survival analysisOverall burdenUse disordersAlcohol consumptionDrug useSurvival analysis
2015
Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS
Wang Q, Yang C, Gelernter J, Zhao H. Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS. Human Genetics 2015, 134: 1195-1209. PMID: 26340901, PMCID: PMC4630076, DOI: 10.1007/s00439-015-1596-8.Peer-Reviewed Original ResearchMeSH KeywordsArthritis, RheumatoidCentral Nervous SystemCrohn DiseaseGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansImmune System DiseasesMental DisordersNerve Tissue ProteinsOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociSchizophreniaSystems IntegrationConceptsImmune disordersPsychiatric disordersCrohn's diseaseDisorder pairsMHC regionPervasive pleiotropyIntegrative analysisGenome-wide association studiesImmune dysregulationImmunological mechanismsTreatment strategiesTraits/diseasesEpidemiological observationsPsychiatric diseasesBrain disordersSame effect directionDiseaseDisordersGenomic regionsRealm of psychiatryMost allelesStrong pleiotropyAnnotation resourcesChromosome 6Association studies
2014
Novel gene identified in an exome‐wide association study of tanning dependence
Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE. Novel gene identified in an exome‐wide association study of tanning dependence. Experimental Dermatology 2014, 23: 757-759. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.Peer-Reviewed Original ResearchGenetics of Complex Traits in Psychiatry
Gelernter J. Genetics of Complex Traits in Psychiatry. Biological Psychiatry 2014, 77: 36-42. PMID: 25444161, PMCID: PMC4282183, DOI: 10.1016/j.biopsych.2014.08.005.Peer-Reviewed Original ResearchConceptsComplex traitsNext-generation high-throughput sequencingGenome-wide association studiesHigh-throughput sequencingSingle nucleotide polymorphismsEpigenetic effectsRisk allelesAssociation studiesExpression dataMultiple risk allelesPsychiatric geneticsPsychiatric traitsNumber variantsNucleotide polymorphismsTraitsGeneticsNew mutationsTrait riskAllelesEpistasisMinor effectMethylationKind of variationVariantsSequencingPharmacogenetics of naltrexone and disulfiram in alcohol dependent, dually diagnosed veterans
Arias AJ, Gelernter J, Gueorguieva R, Ralevski E, Petrakis IL. Pharmacogenetics of naltrexone and disulfiram in alcohol dependent, dually diagnosed veterans. American Journal On Addictions 2014, 23: 288-293. PMID: 24724887, PMCID: PMC4600600, DOI: 10.1111/j.1521-0391.2014.12102.x.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DeterrentsAlcoholismDiagnosis, Dual (Psychiatry)DisulfiramDopamine beta-HydroxylaseDrug Therapy, CombinationFemaleGenotypeHeterozygoteHumansMaleMental DisordersMiddle AgedNaltrexoneNarcotic AntagonistsPolymorphism, Single NucleotideReceptors, Opioid, muTreatment OutcomeVeteransWhite PeopleConceptsAllele carriersHeavy drinkingCo-occurring alcohol dependenceT allele carriersAlcohol-dependent subjectsAD treatment responseTreatment of individualsPrimary outcomePharmacogenetic interactionsHigher overall rateTreatment responseAxis INaltrexoneT carriersEuropean-American subjectsOPRM1 rs1799971Favorable responseMore abstinenceAlcohol dependenceDependent subjectsDBH rs1611115DisulfiramGenotyped subjectsAbstinenceLess drinkingSLC6A4 polymorphism, population genetics, and psychiatric traits
Gelernter J. SLC6A4 polymorphism, population genetics, and psychiatric traits. Human Genetics 2014, 133: 459-461. PMID: 24385047, PMCID: PMC3992709, DOI: 10.1007/s00439-013-1412-2.Peer-Reviewed Original ResearchMeSH KeywordsGenetics, PopulationHumansMental DisordersPolymorphism, GeneticSerotonin Plasma Membrane Transport Proteins
2013
Rate of progression from first use to dependence on cocaine or opioids: A cross-substance examination of associated demographic, psychiatric, and childhood risk factors
Sartor CE, Kranzler HR, Gelernter J. Rate of progression from first use to dependence on cocaine or opioids: A cross-substance examination of associated demographic, psychiatric, and childhood risk factors. Addictive Behaviors 2013, 39: 473-479. PMID: 24238782, PMCID: PMC3855905, DOI: 10.1016/j.addbeh.2013.10.021.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAgedAlcohol-Related DisordersBehavior, AddictiveCase-Control StudiesChildChild AbuseCluster AnalysisCocaine-Related DisordersConnecticutCross-Sectional StudiesDiagnosis, Dual (Psychiatry)Disease ProgressionFemaleHumansInterviews as TopicLogistic ModelsMaleMental DisordersMiddle AgedOpioid-Related DisordersPennsylvaniaRisk FactorsSocial EnvironmentSocioeconomic FactorsSouth CarolinaTime FactorsConceptsChildhood risk factorsOpioid dependenceOpioid-dependent participantsRisk factorsCocaine dependenceDependent participantsImportant public health goalRate of progressionPublic health goalsLogistic regression modelsBlack/African AmericanChildhood physical abuseOrdinal logistic regression modelsCocaine-dependent participantsMean ageSlow progressionElevated riskAssociated demographicPsychiatric disordersMulti-site studyDependence diagnosisGreater riskHealth goalsSubstance dependenceConduct disorder
2011
Empirically derived subtypes of opioid use and related behaviors
Chan G, Gelernter J, Oslin D, Farrer L, Kranzler HR. Empirically derived subtypes of opioid use and related behaviors. Addiction 2011, 106: 1146-1154. PMID: 21306596, PMCID: PMC3164489, DOI: 10.1111/j.1360-0443.2011.03390.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetAgedAnalgesics, OpioidChildCluster AnalysisComorbidityDiagnostic and Statistical Manual of Mental DisordersFamily HealthFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansInterview, PsychologicalMaleMental DisordersMiddle AgedOpioid-Related DisordersPhenotypePrevalenceSiblingsSubstance Abuse, IntravenousUnited StatesYoung AdultConceptsOpioid usePsychiatric disordersHomogeneous subtypesRelated behaviorsSemi-Structured AssessmentGeneral community sampleOpioid dependenceMedical historyPrevalence ratesCocaine dependenceDrug dependenceSubtypesParticipant demographicsSubstance useCase-control genetic studyDemographicsDisordersCommunity sampleGenetic studies