2024
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman J, Rodriguez A, Conery M, Liu M, Ho Y, Kim Y, Heise D, Guare L, Panickan V, Garcon H, Linares F, Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner D, Sangar R, Murray M, Wang X, Dochtermann D, Devineni P, Shi Y, Nandi T, Assimes T, Brunette C, Carroll R, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar S, Joseph J, Kember R, Kranzler H, Kripke C, Levey D, Luoh S, Merritt V, Overstreet C, Deak J, Grant S, Polimanti R, Roussos P, Shakt G, Sun Y, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell C, Muralidhar S, Moser J, Casas J, Bick A, Zhou W, Cai T, Voight B, Cho K, Gaziano J, Madduri R, Damrauer S, Liao K. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science 2024, 385: eadj1182. PMID: 39024449, DOI: 10.1126/science.adj1182.Peer-Reviewed Original ResearchConceptsMillion Veteran ProgramNon-European populationsVeteran ProgramGenetic architectureAtlas of genetic associationsVeterans Affairs Million Veteran ProgramVA Million Veteran ProgramGenomic risk lociGenome-wide associationHuman genetic studiesHealth disparitiesUnited States veteransCausal variantsRisk lociGenetic insightsGenetic studiesGenetic associationGenetic causeStates veteransDiverse populationsDisease factorsLack of inclusionLongitudinal studyParticipantsTraits
2021
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Mullins N, Forstner AJ, O’Connell K, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder BM, Sloofman LG, Steinberg S, Trubetskoy V, Winsvold BS, Won HH, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek JH, Bækvad-Hansen M, Bass N, Bauer M, Beins EC, Bergen SE, Birner A, Bøcker Pedersen C, Bøen E, Boks MP, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke TK, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski PM, Dale AM, Dalkner N, David FS, Degenhardt F, Djurovic S, Dobbyn AL, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier IN, Fiorentino A, Foroud TM, Forty L, Frank J, Frei O, Freimer NB, Frisén L, Gade K, Garnham J, Gelernter J, Giørtz Pedersen M, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans PA, Huckins L, Jamain S, Johnson JS, Kalman JL, Kamatani Y, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koromina M, Kranz TM, Kranzler HR, Kubo M, Kupka R, Kushner SA, Lavebratt C, Lawrence J, Leber M, Lee HJ, Lee PH, Levy SE, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre DJ, Magnusson SH, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McCarroll SA, McGregor NW, McGuffin P, McKay JD, Medeiros H, Medland SE, Millischer V, Montgomery GW, Moran JL, Morris DW, Mühleisen TW, O’Brien N, O’Donovan C, Olde Loohuis LM, Oruc L, Papiol S, Pardiñas AF, Perry A, Pfennig A, Porichi E, Potash JB, Quested D, Raj T, Rapaport MH, DePaulo JR, Regeer EJ, Rice JP, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer DM, Sánchez-Mora C, Schulte EC, Senner F, Sharp S, Shilling PD, Sigurdsson E, Sirignano L, Slaney C, Smeland OB, Smith DJ, Sobell JL, Søholm Hansen C, Soler Artigas M, Spijker AT, Stein DJ, Strauss JS, Świątkowska B, Terao C, Thorgeirsson TE, Toma C, Tooney P, Tsermpini EE, Vawter MP, Vedder H, Walters JTR, Witt SH, Xi S, Xu W, Yang JMK, Young AH, Young H, Zandi PP, Zhou H, Zillich L, 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, Shannon 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. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 2021, 53: 817-829. PMID: 34002096, PMCID: PMC8192451, DOI: 10.1038/s41588-021-00857-4.Peer-Reviewed Original ResearchConceptsAssociation studiesQuantitative trait loci dataExpression quantitative trait loci (eQTL) dataGenome-wide association studiesBipolar disorder casesBrain-expressed genesWide association studyHeritable mental illnessSynaptic signaling pathwaysGenomic lociTargets of antipsychoticsLoci dataImperfect genetic correlationGene expressionSignaling pathwaysFunctional followGenesGenetic correlationsDruggable targetsSignal enrichmentEuropean ancestryLociBipolar disorder risk allelesNew insightsTherapeutic leadsEpigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms
Pathak GA, Wendt FR, De Lillo A, Nunez YZ, Goswami A, De Angelis F, Fuciarelli M, Kranzler HR, Gelernter J, Polimanti R. Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms. Circulation Genomic And Precision Medicine 2021, 14: e003011. PMID: 33428857, PMCID: PMC7887108, DOI: 10.1161/circgen.120.003011.Peer-Reviewed Original ResearchAmyloidosisATP Binding Cassette Transporter 1Black or African AmericanDNA MethylationEpigenomicsGene Regulatory NetworksGenome-Wide Association StudyHeart DiseasesHumansKv1.6 Potassium ChannelPhosphoproteinsPolymorphism, Single NucleotidePrealbuminQuantitative Trait LociUbiquitin-Conjugating Enzymes
2020
Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals
Xu K, Li B, McGinnis KA, Vickers-Smith R, Dao C, Sun N, Kember RL, Zhou H, Becker WC, Gelernter J, Kranzler HR, Zhao H, Justice AC. Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals. Nature Communications 2020, 11: 5302. PMID: 33082346, PMCID: PMC7598939, DOI: 10.1038/s41467-020-18489-3.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesLarge genome-wide association studiesMillion Veteran ProgramAssociation studiesExpression quantitative trait lociQuantitative trait lociChromatin interactionsComplex traitsFunctional annotationTrait lociSequencing ConsortiumDozen genesSignificant lociSmoking phenotypesLociMultiple populationsNew insightsPhenotypeVeteran ProgramGenetic vulnerabilityGenesTraitsAnnotationEuropean AmericansConsortium
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 ResearchMeSH KeywordsGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMental DisordersNeurogenesisQuantitative Trait Loci
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 cerebellumGenetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Do C, Shearer A, Suzuki M, Terry MB, Gelernter J, Greally JM, Tycko B. Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era. Genome Biology 2017, 18: 120. PMID: 28629478, PMCID: PMC5477265, DOI: 10.1186/s13059-017-1250-y.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCpG IslandsDNA MethylationEpigenesis, GeneticGenome-Wide Association StudyHaplotypesHumansPolymorphism, Single NucleotideQuantitative Trait LociConceptsMethylation quantitative trait lociCCCTC-binding factorEpigenome-wide association studiesGenetic-epigenetic interactionsAllele-specific DNA methylationSequence variantsPost-GWAS eraQuantitative trait lociRegulatory sequence variantsGWAS signalsTrait lociDNA methylationTranscription factorsTranscriptional pathwaysAssociation studiesNon-genetic effectsStudy eraMajor focusMethylationLociVariantsCommon diseaseSitesNeuropsychiatric disordersPathway
2015
The genetics of alcohol dependence: Twin and SNP‐based heritability, and genome‐wide association study based on AUDIT scores
Mbarek H, Milaneschi Y, Fedko IO, Hottenga JJ, de Moor MH, Jansen R, Gelernter J, Sherva R, Willemsen G, Boomsma DI, Penninx BW, Vink JM. The genetics of alcohol dependence: Twin and SNP‐based heritability, and genome‐wide association study based on AUDIT scores. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2015, 168: 739-748. PMID: 26365420, DOI: 10.1002/ajmg.b.32379.Peer-Reviewed Original ResearchConceptsGenome-wide complex trait analysisWide association studySNP effect concordance analysisAssociation studiesTop hitsSNP-based heritabilityTwin-based heritabilityPrevious genetic studiesComplex trait analysisFirst GWASGenetic basisTrait analysisGenetic studiesCommon SNPsSNP effectsPrevious GWASGWASLarge-scale biobanksHeritabilityHeritability estimatesPervasive 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
Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes
Zhang H, Wang F, Kranzler HR, Yang C, Xu H, Wang Z, Zhao H, Gelernter J. Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes. Human Genetics 2014, 133: 1093-1104. PMID: 24889829, PMCID: PMC4127343, DOI: 10.1007/s00439-014-1452-2.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociQuantitative trait lociDNA methylationTrait lociSignificant methylation quantitative trait lociSequence variantsRisk genesGene expression regulationGenome-wide association studiesGenome-wide genotype dataPromoter DNA methylationAD risk genesGene promoter regionExpression QTLsExpression regulationGenetic variationPromoter CpGsPromoter regionNovel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders
Kos MZ, Glahn DC, Carless MA, Olvera R, McKay DR, Quillen EE, Gelernter J, Chen X, Deng H, Kent JW, Dyer TD, Göring HH, Curran JE, Duggirala R, Blangero J, Almasy L. Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 294-302. PMID: 24692236, PMCID: PMC4172449, DOI: 10.1002/ajmg.b.32231.Peer-Reviewed Original ResearchConceptsSan Antonio Family StudyGenome-wide SNPsSignificant SNP associationsSignificant pleiotropic effectsCompelling candidate genesStrong genetic correlationPotential risk locusNovel QTLChromosome 6p22.3Significant QTLGene actionChromosome regionsChromosome 4Heritable phenotypesCandidate genesRisk lociLinkage signalChromosome 6p22QTLSNP associationsLinkage regionGenetic correlationsSusceptibility genesPleiotropic effectsGenes
2012
Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans
Han S, Gelernter J, Kranzler HR, Yang BZ. Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans. Human Genetics 2012, 132: 397-403. PMID: 23239122, PMCID: PMC3751162, DOI: 10.1007/s00439-012-1255-2.Peer-Reviewed Original Research
2011
Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q
Zuo L, Gelernter J, Zhang CK, Zhao H, Lu L, Kranzler HR, Malison RT, Li CS, Wang F, Zhang XY, Deng HW, Krystal JH, Zhang F, Luo X. Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q. Neuropsychopharmacology 2011, 37: 557-566. PMID: 21956439, PMCID: PMC3242317, DOI: 10.1038/npp.2011.229.Peer-Reviewed Original ResearchConceptsSignificant risk genesHapMap populationsGenome-wide association analysisExpression quantitative trait loci (eQTL) analysisGenome-wide association study data setsQuantitative trait locus (QTL) analysisAssociation analysisMetabolic pathwaysRisk genesGenome-wide association studiesSNP-expression associationsCis-acting regulatory effectsExtracellular matrix proteinsGene expression levelsNumerous genesSignificant SNPsCausal variantsKIAA0040Risk lociRisk of ADLocus analysisAssociation studiesMatrix proteinsRisk SNPsCell migration
2008
Dense Genomewide Linkage Scan for Alcohol Dependence in African Americans: Significant Linkage on Chromosome 10
Gelernter J, Kranzler HR, Panhuysen C, Weiss RD, Brady K, Poling J, Farrer L. Dense Genomewide Linkage Scan for Alcohol Dependence in African Americans: Significant Linkage on Chromosome 10. Biological Psychiatry 2008, 65: 111-115. PMID: 18930185, PMCID: PMC2646253, DOI: 10.1016/j.biopsych.2008.08.036.Peer-Reviewed Original ResearchQuantitative Trait Locus Analysis Identifies Rat Genomic Regions Related to Amphetamine-Induced Locomotion and Gαi3 Levels in Nucleus Accumbens
Potenza MN, Brodkin ES, Yang BZ, Birnbaum SG, Nestler EJ, Gelernter J. Quantitative Trait Locus Analysis Identifies Rat Genomic Regions Related to Amphetamine-Induced Locomotion and Gαi3 Levels in Nucleus Accumbens. Neuropsychopharmacology 2008, 33: 2735-2746. PMID: 18216777, PMCID: PMC2818767, DOI: 10.1038/sj.npp.1301667.Peer-Reviewed Original ResearchMeSH KeywordsAmphetamineAnimalsGenomicsGTP-Binding Protein alpha Subunits, Gi-GoMaleMotor ActivityNucleus AccumbensQuantitative Trait LociRatsRats, Inbred F344Rats, Inbred LewConceptsQuantitative trait lociRobust quantitative trait lociGenomic regionsChromosome 2Quantitative trait locus (QTL) analysisG protein levelsCommon genetic mechanismQTL patternsTrait lociRat genomic regionsGenetic mechanismsChromosome 3Locus analysisChromosome 13Genetic factorsGαi3LociAmphetamine-Induced LocomotionBetter understandingLocomotionRegionAnimal modelsSignificant implicationsLevelsNovelty-induced locomotion
2007
Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4
Ittiwut C, Listman J, Mutirangura A, Malison R, Covault J, Kranzler HR, Sughondhabirom A, Thavichachart N, Gelernter J. Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4. Genomics 2007, 91: 61-69. PMID: 17976953, PMCID: PMC2709929, DOI: 10.1016/j.ygeno.2007.08.007.Peer-Reviewed Original ResearchConceptsLinkage disequilibrium patternsDisequilibrium patternsHuman chromosome 4Intergenic distancesIntergenic regionHaplotype block structureChromosome 4Haplotype structureLD blocksFunctional variantsGamma 1 subunitChromosome 4pHigh LDGABRA2 locusGenetic associationGenesLociDifferent populationsAlpha 2GABRA2KbSubunitsPopulationReported associationsGABRG1
2006
Genomewide Linkage Scan for Opioid Dependence and Related Traits
Gelernter J, Panhuysen C, Wilcox M, Hesselbrock V, Rounsaville B, Poling J, Weiss R, Sonne S, Zhao H, Farrer L, Kranzler HR. Genomewide Linkage Scan for Opioid Dependence and Related Traits. American Journal Of Human Genetics 2006, 78: 759-769. PMID: 16642432, PMCID: PMC1474044, DOI: 10.1086/503631.Peer-Reviewed Original Research
2004
Genomic regions controlling corticosterone levels in rats
Potenza MN, Brodkin ES, Joe B, Luo X, Remmers EF, Wilder RL, Nestler EJ, Gelernter J. Genomic regions controlling corticosterone levels in rats. Biological Psychiatry 2004, 55: 634-641. PMID: 15013833, DOI: 10.1016/j.biopsych.2003.11.005.Peer-Reviewed Original ResearchConceptsGenomic regionsQuantitative trait locus (QTL) analysisGenome-wide levelSpecific genomic regionsUnderstanding of susceptibilitySignificant QTLGenomic backgroundChromosome 4Locus analysisF2 progenyGenetic differencesSuggestive significanceDisease susceptibilityQTLFirst identificationCongenic animalsDeoxyribonucleic acidGenetic factorsProgenyIdentificationRegionSusceptibilityLevels
2003
The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity
Zabetian CP, Buxbaum SG, Elston RC, Köhnke MD, Anderson GM, Gelernter J, Cubells JF. The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity. American Journal Of Human Genetics 2003, 72: 1389-1400. PMID: 12730829, PMCID: PMC1180300, DOI: 10.1086/375499.Peer-Reviewed Original ResearchConceptsQuantitative trait lociHuman genomeDBH locusLow haplotype diversityTotal phenotypic varianceLarge-scale association studiesLinkage disequilibrium mappingDiallelic markersPutative functional polymorphismsComplex traitsHaplotype diversityGenomewide scaleObserved chromosomesHaplotype mapPhenotypic varianceGenomewide basisDegree of LDAssociation studiesDisequilibrium mappingUpstream regionHaplotype blocksLinkage disequilibriumLociDistinct populationsGenome