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
2017
Novel Bipolar And Schizophrenia Risk Genes Identified Through Genic Associations In Transcriptome Imputation
Huckins L, Dobbyn A, Ruderfer D, Fromer M, Consortium C, Cox N, Im H, Sieberts S, Devlin B, Roussos P, Purcell S, Sklar P, Stahl E. Novel Bipolar And Schizophrenia Risk Genes Identified Through Genic Associations In Transcriptome Imputation. European Neuropsychopharmacology 2017, 27: s487. DOI: 10.1016/j.euroneuro.2016.09.577.Peer-Reviewed Original ResearchPsychiatric Genomics ConsortiumGenome-wide significanceGenic associationsGene expressionAssociation studiesPsychiatric Genomics Consortium schizophreniaRisk genesLarge-scale transcriptome datasetsVariants regulate gene expressionBackgroundGenome-wide association studiesTissue-specific gene expression levelsGWAS sample sizeNovel risk genesRNA-seq dataBipolar disorderSchizophrenia risk genesBiologically relevant dataCase-control sampleGWAS lociGene expression levelsGenome-wideGWAS datasetDisease architectureGenomic regionsTop loci