ArticleGenome research2020
Leveraging mouse chromatin data for heritability enrichment informs common disease architecture and reveals cortical layer contributions to schizophrenia.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 50 citations in OpenAlex.
- Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.Nature communications · 2026Article
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- A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network.Circulation · 2024Article
- Constructing eRNA-mediated gene regulatory networks to explore the genetic basis of muscle and fat-relevant traits in pigs.Genetics, selection, evolution : GSE · 2024Article
- Leveraging single-cell ATAC-seq and RNA-seq to identify disease-critical fetal and adult brain cell types.Nature communications · 2024Article
- Genetic effects of sequence-conserved enhancer-like elements on human complex traits.Genome biology · 2024Article
- Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.Nature genetics · 2023Article
- AdaLiftOver: high-resolution identification of orthologous regulatory elements with Adaptive liftOver.Bioinformatics (Oxford, England) · 2023Article
- Comparative chromatin accessibility upon BDNF stimulation delineates neuronal regulatory elements.Molecular systems biology · 2022Article
- Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain.Nature communications · 2022Article
- Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci.Biology letters · 2022Article
- INFIMA leverages multi-omics model organism data to identify effector genes of human GWAS variants.Genome biology · 2021Article
- PlantDeepSEA, a deep learning-based web service to predict the regulatory effects of genomic variants in plants.Nucleic acids research · 2021Article
- Cardiac cell type-specific gene regulatory programs and disease risk association.Science advances · 2021Article
- Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.Nature genetics · 2020Article
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.Cell · 2019Review
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2 authors at 1 institution in 1 country.
Funding
Abstract
Genome-wide association studies have implicated thousands of noncoding variants across common human phenotypes. However, they cannot directly inform the cellular context in which disease-associated variants act. Here, we use open chromatin profiles from discrete mouse cell populations to address this challenge. We applied stratified linkage disequilibrium score regression and evaluated heritability enrichment in 64 genome-wide association studies, emphasizing schizophrenia. We provide evidence that mouse-derived human open chromatin profiles can serve as powerful proxies for difficult to obtain human cell populations, facilitating the illumination of common disease heritability enrichment across an array of human phenotypes. We demonstrate that signatures from discrete subpopulations of cortical excitatory and inhibitory neurons are significantly enriched for schizophrenia heritability with maximal enrichment in cortical layer V excitatory neurons. We also show that differences between schizophrenia and bipolar disorder are concentrated in excitatory neurons in cortical layers II-III, IV, and V, as well as the dentate gyrus. Finally, we leverage these data to fine-map variants in 177 schizophrenia loci nominating variants in 104/177. We integrate these data with transcription factor binding site, chromatin interaction, and validated enhancer data, placing variants in the cellular context where they may modulate risk.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.