Nature Genetics · 2022 · 323 citations · 50 references
Life SciencesGeneticsMolecular GeneticsBehavioral GeneticsNeurogeneticsNeuropsychiatryBehavioral GenomicsEtiology Of Mental DisordersMental IllnessNeurogenetic DisordersNeuropsychiatric GeneticsPsychiatric GeneticsFamilial Aggregation Of Psychiatric DisordersMajor Depressive Disorder GeneticsMolecular Genetic ArchitectureMolecular Genetic AssociationPsychiatric Disorder HeritabilityPsychiatric Genetic RiskPsychiatric GenomicsShared Heritability Across Psychiatric Disorders
We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four broad factors (neurodevelopmental, compulsive, psychotic and internalizing) that underlie genetic correlations among the disorders and test whether these factors adequately explain their genetic correlations with biobehavioral traits. We introduce stratified genomic structural equation modeling, which we use to identify gene sets that disproportionately contribute to genetic risk sharing. This includes protein-truncating variant-intolerant genes expressed in excitatory and GABAergic brain cells that are enriched for genetic overlap across disorders with psychotic features. Multivariate association analyses detect 152 (20 new) independent loci that act on the individual factors and identify nine loci that act heterogeneously across disorders within a factor. Despite moderate-to-high genetic correlations across all 11 disorders, we find little utility of a single dimension of genetic risk across psychiatric disorders either at the level of biobehavioral correlates or at the level of individual variants. Joint analysis of 11 major psychiatric disorders identifies four broad factor underlying genetic correlations among the disorders. Association analyses detect 152 loci acting on these factors and identify 9 loci that act heterogeneously across disorders.
50
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text
GCTA: A Tool for Genome-wide Complex Trait Analysis
Jian Yang, Sang Lee, Michael E. Goddard et al. · The American Journal of Human Genetics · 2010 · 9.3K citations · Full text
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje, Wouter Meuleman, Jason Ernst et al. · Nature · 2015 · 7.1K citations · Full text