Featured Publications
Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration
Austin-Zimmerman I, Levey D, Giannakopoulou O, Deak J, Galimberti M, Adhikari K, Zhou H, Denaxas S, Irizar H, Kuchenbaecker K, McQuillin A, Concato J, Buysse D, Gaziano J, Gottlieb D, Polimanti R, Stein M, Bramon E, Gelernter J. Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration. Nature Communications 2023, 14: 6059. PMID: 37770476, PMCID: PMC10539313, DOI: 10.1038/s41467-023-41249-y.Peer-Reviewed Original ResearchMeSH KeywordsAdultGenome-Wide Association StudyHumansMendelian Randomization AnalysisPhenotypePolymorphism, Single NucleotideSleepSleep DurationConceptsAssociation studiesGenome-wide association studiesGenetic correlationsWide association studyLinkage disequilibrium scorePositive genetic correlationSleep traitsIndependent lociMillion Veteran ProgramTraitsAncestryUK BiobankVeteran ProgramMendelian randomisationLociHeritabilitySNPsPhenotypeEast AsiansSimilar patternCardiometabolic phenotypes
2024
A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals
Jennings M, Martínez-Magaña J, Courchesne-Krak N, Cupertino R, Vilar-Ribó L, Bianchi S, Hatoum A, Atkinson E, Giusti-Rodriguez P, Montalvo-Ortiz J, Gelernter J, Artigas M, 23andMe I, Aslibekyan S, Auton A, Babalola E, Bell R, Bielenberg J, Bryc K, Bullis E, Coker D, Partida G, Dhamija D, Das S, Elson S, Eriksson N, Filshtein T, Fitch A, Fletez-Brant K, Fontanillas P, Freyman W, Granka J, Heilbron K, Hernandez A, Hicks B, Hinds D, Jewett E, Jiang Y, Kukar K, Kwong A, Lin K, Llamas B, Lowe M, McCreight J, McIntyre M, Micheletti S, Moreno M, Nandakumar P, Nguyen D, Noblin E, O'Connell J, Petrakovitz A, Poznik G, Reynoso A, Schumacher M, Shastri A, Shelton J, Shi J, Shringarpure S, Su Q, Tat S, Tchakouté C, Tran V, Tung J, Wang X, Wang W, Weldon C, Wilton P, Wong C, Elson S, Edenberg H, Fontanillas P, Palmer A, Sanchez-Roige S. A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. EBioMedicine 2024, 103: 105086. PMID: 38580523, PMCID: PMC11121167, DOI: 10.1016/j.ebiom.2024.105086.Peer-Reviewed Original ResearchConceptsMultiple domains of healthDomains of healthEffects of alcohol consumptionAlcohol consumptionHealth outcomesPhenome-wide association studyAlcohol-related behaviorsCardio-metabolic healthPotential causal effectMendelian randomisation studiesGenome-wide association studiesPhenome-wide associationMR analysisPheWAS associationsMultiple domainsHypothesis-free approachPreventive medicineDiverse cohortPheWASAssociation studiesHealthReproductive healthAlcohol behaviorConsequences of drinkingEuropean cohortAssociation between cannabis use and brain structure and function: an observational and Mendelian randomisation study
Ishrat S, Levey D, Gelernter J, Ebmeier K, Topiwala A. Association between cannabis use and brain structure and function: an observational and Mendelian randomisation study. BMJ Mental Health 2024, 27: e301065. PMID: 39477366, PMCID: PMC11529520, DOI: 10.1136/bmjment-2024-301065.Peer-Reviewed Original ResearchMeSH KeywordsAgedBrainFemaleHumansMagnetic Resonance ImagingMaleMarijuana UseMendelian Randomization AnalysisMiddle AgedUnited KingdomWhite MatterConceptsCannabis useBrain structuresFunctional connectivityHistory of cannabis useResting-state functional connectivityMeasures of brain structureLifetime cannabis useCentral executive networkLifetime cannabis usersWhite matter integrityGenu of the corpus callosumMendelian randomisation analysisAssociated with multiple measuresPoorer white matter integrityInvestigate potential causal relationshipsCannabis usersExecutive networkBrain regionsImaging-derived phenotypesBrain healthCannabisRandomisation analysesTwo-sample Mendelian randomisation analysisFractional anisotropyYoung adulthood
2022
The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study
Wendt FR, Garcia-Argibay M, Cabrera-Mendoza B, Valdimarsdóttir UA, Gelernter J, Stein MB, Nivard MG, Maihofer AX, Consortium P, Maihofer A, Choi K, Coleman J, Daskalakis N, Denckla C, Ketema E, Morey R, Polimanti R, Ratanatharathorn A, Torres K, Wingo A, Zai C, Aiello A, Almli L, Amstadter A, Andersen S, Andreassen O, Arbisi P, Ashley-Koch A, Austin S, Avdibegovic E, Borglum A, Babic D, Bækvad-Hansen M, Baker D, Beckham J, Bierut L, Bisson J, Boks M, Bolger E, Bradley B, Brashear M, Breen G, Bryant R, Bustamante A, Bybjerg-Grauholm J, Calabrese J, Caldas-de-Almeida J, Chen C, Dale A, Dalvie S, Deckert J, Delahanty D, Dennis M, Disner S, Domschke K, Duncan L, Kulenovic A, Erbes C, Evans A, Farrer L, Feeny N, Flory J, Forbes D, Franz C, Galea S, Garrett M, Gautam A, Gelaye B, Gelernter J, Geuze E, Gillespie C, Uka A, Gordon S, Guffanti G, Hammamieh R, Hauser M, Heath A, Hemmings S, Hougaard D, Jakovljevic M, Jett M, Johnson E, Jones I, Jovanovic T, Qin X, Karstoft K, Kaufman M, Kessler R, Khan A, Kimbrel N, King A, Koen N, Kranzler H, Kremen W, Lawford B, Lebois L, Lewis C, Liberzon I, Linnstaedt S, Logue M, Lori A, Lugonja B, Luykx J, Lyons M, Maples-Keller J, Marmar C, Martin N, Maurer D, Mavissakalian M, McFarlane A, McGlinchey R, McLaughlin K, McLean S, Mehta D, Mellor R, Michopoulos V, Milberg W, Miller M, Morris C, Mors O, Mortensen P, Nelson E, Nordentoft M, Norman S, O’Donnell M, Orcutt H, Panizzon M, Peters E, Peterson A, Peverill M, Pietrzak R, Polusny M, Rice J, Risbrough V, Roberts A, Rothbaum A, Rothbaum B, Roy-Byrne P, Ruggiero K, Rung A, Rutten B, Saccone N, Sanchez S, Schijven D, Seedat S, Seligowski A, Seng J, Sheerin C, Silove D, Smith A, Smoller J, Sponheim S, Stein D, Stevens J, Teicher M, Thompson W, Trapido E, Uddin M, Ursano R, van den Heuvel L, Van Hooff M, Vermetten E, Vinkers C, Voisey J, Wang Y, Wang Z, Werge T, Williams M, Williamson D, Winternitz S, Wolf C, Wolf E, Yehuda R, Young K, Young R, Zhao H, Zoellner L, Haas M, Lasseter H, Provost A, Salem R, Sebat J, Shaffer R, Wu T, Ripke S, Daly M, Ressler K, Koenen K, Stein M, Nievergelt C, Nievergelt C, Larsson H, Mattheisen M, Polimanti R, Meier S. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study. Biological Psychiatry 2022, 93: 362-369. PMID: 36335070, PMCID: PMC10496427, DOI: 10.1016/j.biopsych.2022.08.012.Peer-Reviewed Original ResearchAttention Deficit Disorder with HyperactivityGenome-Wide Association StudyHumansMendelian Randomization AnalysisSiblingsStress Disorders, Post-TraumaticAlcohol consumption and telomere length: Mendelian randomization clarifies alcohol’s effects
Topiwala A, Taschler B, Ebmeier KP, Smith S, Zhou H, Levey DF, Codd V, Samani NJ, Gelernter J, Nichols TE, Burgess S. Alcohol consumption and telomere length: Mendelian randomization clarifies alcohol’s effects. Molecular Psychiatry 2022, 27: 4001-4008. PMID: 35879401, PMCID: PMC9718662, DOI: 10.1038/s41380-022-01690-9.Peer-Reviewed Original ResearchAlcohol DrinkingEthanolGenome-Wide Association StudyHumansMendelian Randomization AnalysisPolymorphism, Single NucleotideTelomereAssociations between moderate alcohol consumption, brain iron, and cognition in UK Biobank participants: Observational and mendelian randomization analyses
Topiwala A, Wang C, Ebmeier KP, Burgess S, Bell S, Levey DF, Zhou H, McCracken C, Roca-Fernández A, Petersen SE, Raman B, Husain M, Gelernter J, Miller KL, Smith SM, Nichols TE. Associations between moderate alcohol consumption, brain iron, and cognition in UK Biobank participants: Observational and mendelian randomization analyses. PLOS Medicine 2022, 19: e1004039. PMID: 35834561, PMCID: PMC9282660, DOI: 10.1371/journal.pmed.1004039.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DrinkingAlcoholismBiological Specimen BanksBrainCognitionFemaleHumansIronMaleMendelian Randomization AnalysisMiddle AgedUnited KingdomConceptsAlcohol use disorderHigh brain ironModerate alcohol consumptionBrain ironAlcohol consumptionAlcohol intakeUse disordersSubstantia nigraAlcohol-related cognitive declineIron depositionBrain regionsSusceptibility-weighted magnetic resonanceIron accumulationIron levelsBrain iron depositionBrain iron levelsSystemic iron levelsSystemic iron storesAlcohol-related cognitive deficitsBasal ganglia ironElevated liver ironMendelian randomizationWeekly alcohol consumptionUK Biobank participantsExecutive function
2019
Association of Economic Status and Educational Attainment With Posttraumatic Stress Disorder
Polimanti R, Ratanatharathorn A, Maihofer AX, Choi KW, Stein MB, Morey RA, Logue MW, Nievergelt CM, Stein DJ, Koenen KC, Gelernter J. Association of Economic Status and Educational Attainment With Posttraumatic Stress Disorder. JAMA Network Open 2019, 2: e193447. PMID: 31050786, PMCID: PMC6503495, DOI: 10.1001/jamanetworkopen.2019.3447.Peer-Reviewed Original ResearchEvidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium
Polimanti R, Peterson RE, Ong JS, MacGregor S, Edwards AC, Clarke TK, Frank J, Gerring Z, Gillespie NA, Lind PA, Maes HH, Martin NG, Mbarek H, Medland SE, Streit F, Agrawal A, Edenberg H, Kendler K, Lewis C, Sullivan P, Wray N, Gelernter J, Derks E. Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium. Psychological Medicine 2019, 49: 1218-1226. PMID: 30929657, PMCID: PMC6565601, DOI: 10.1017/s0033291719000667.Peer-Reviewed Original ResearchConceptsMajor depressionAlcohol dependenceAlcohol consumptionPsychiatric Genomics ConsortiumImportant public health concernMendelian randomizationPublic health concernUK BiobankClinical associationsHealth concernMR analysisReverse causationCausal roleNon-significant resultsCausal relationshipGenetic liabilityGenomics ConsortiumLinkage disequilibrium score regressionIntervention efforts
2018
GWAS 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 analysis
2017
Genetically determined schizophrenia is not associated with impaired glucose homeostasis
Polimanti R, Gelernter J, Stein DJ. Genetically determined schizophrenia is not associated with impaired glucose homeostasis. Schizophrenia Research 2017, 195: 286-289. PMID: 29092750, PMCID: PMC5924728, DOI: 10.1016/j.schres.2017.10.033.Peer-Reviewed Original Research