2025
Genomics yields biological and phenotypic insights into bipolar disorder
Lee B, Kim J, Lee Y, Kang J, Cheon M, Kim D, Aslan M, Harvey P, Huang G. Genomics yields biological and phenotypic insights into bipolar disorder. Nature 2025, 639: 968-975. PMID: 39843750, PMCID: PMC12163093, DOI: 10.1038/s41586-024-08468-9.Peer-Reviewed Original ResearchFine-mappingGenetic architectureGenome-wide significant lociMulti-ancestry meta-analysisGenetic architecture of bipolar disorderRare variant signalsSignificant lociGenetic determinantsBipolar disorderVariant signalsLatino ancestryCell typesEast Asian cohortsPhenotypic insightsPathophysiology of bipolar disorderGenesMedium spiny neuronsBipolar disorder subtypesPatient ascertainmentAetiology of bipolar disorderGABAergic interneuronsSpiny neuronsAsian cohortGenomeGlobal burden
2023
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
Liu D, Meyer D, Fennessy B, Feng C, Cheng E, Johnson J, Park Y, Rieder M, Ascolillo S, de Pins A, Dobbyn A, Lebovitch D, Moya E, Nguyen T, Wilkins L, Hassan A, Burdick K, Buxbaum J, Domenici E, Frangou S, Hartmann A, Laurent-Levinson C, Malhotra D, Pato C, Pato M, Ressler K, Roussos P, Rujescu D, Arango C, Bertolino A, Blasi G, Bocchio-Chiavetto L, Campion D, Carr V, Fullerton J, Gennarelli M, González-Peñas J, Levinson D, Mowry B, Nimgaokar V, Pergola G, Rampino A, Cervilla J, Rivera M, Schwab S, Wildenauer D, Daly M, Neale B, Singh T, O’Donovan M, Owen M, Walters J, Ayub M, Malhotra A, Lencz T, Sullivan P, Sklar P, Stahl E, Huckins L, Charney A. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations. Nature Genetics 2023, 55: 369-376. PMID: 36914870, PMCID: PMC10011128, DOI: 10.1038/s41588-023-01305-1.Peer-Reviewed Original ResearchConceptsProtein-truncating variantsRare protein-truncating variantsControls of diverse ancestryGenetic architecture of schizophreniaRare variant signalsProtein-coding regionsSchizophrenia risk genesCustom sequencing panelAncestral populationsAllelic spectrumGenetic architectureHuman populationDiverse ancestryHuman geneticsRisk genesVariant signalsGenesSequencing panelSchizophrenia casesSchizophrenia riskChronic mental illnessAncestryGeneticsMental illnessVariants
2019
Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.
Deak J, Gizer I, Otto J, Bizon C, Wilhelmsen K. Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior. Journal Of Studies On Alcohol And Drugs 2019, 80: 585-593. PMID: 31790348, PMCID: PMC6900988, DOI: 10.15288/jsad.2019.80.585.Peer-Reviewed Original ResearchConceptsVariant associationsCommon variant associationsRare variant association testsRare variant signalsGene-based analysisRare variant associationsMolecular genetic studiesSingle variant analysisIntergenic regionRare variationAlcohol use disorderTop associationsSequencing dataVariant contributionsGenetic studiesAlcoholism (COGA) sampleGenetic sequencing dataReceptor geneUse disordersVariant signalsGene variationTypes of variationConfer riskStrong associationSignificant association
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply