ArticleNature genetics2025
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed.
- Article
- A single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits.bioRxiv : the preprint server for biology · 2026Article
- Mapping genetic regulation of gene expression to cellular contexts identifies long non-coding RNAs associated with brain disorders.Nature communications · 2026Article
- Erbin Regulates Neuronal Hyperexcitability and Seizure Susceptibility in Temporal Lobe Epilepsy.Neuroscience bulletin · 2026Article
- Polyamide-66 microplastics and early-onset ischemic stroke: a systems toxicology, multi-omics, and molecular dynamics simulation analysis.Molecular diversity · 2026Article
- Characterizing the impact of plasma protein levels on human brain structure and disorders leveraging integrative multi-omics analysis.medRxiv : the preprint server for health sciences · 2026Article
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- Shared proteomic landscape between arteriosclerosis and cardiovascular endpoints: a Mendelian randomization and observational study integrating AlphaFold3 for structural prediction.Cardiovascular research · 2026Observational
- Exploring MAPT-containing H1 and H2 haplotypes in Parkinson's disease across diverse populations.NPJ Parkinson's disease · 2026Article
- Single-cell eQTL mapping reveals convergent glial-neuronal risk architecture in Parkinson's disease.bioRxiv : the preprint server for biology · 2026Article
- Mapping the Neurovascular Unit Genetic Architecture of Early-Onset Ischemic Stroke: A Single-Cell Causal Framework for Target Discovery and Therapeutic Translation.Cellular and molecular neurobiology · 2026Article
- Cell-type-aware transcriptome-wide association studies identify 91 independent risk genes for Alzheimer's disease dementia.Communications biology · 2026Article
- Single-cell eQTL mapping reveals cell-type-specific genetic regulation in lung cancer.Cell genomics · 2026Article
- Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Spatially Contextualized Integrative Genomics Highlights Neuronal and Glial Regulatory Programs in Low Back Pain.Journal of pain research · 2026Article
- Genetic susceptibility shaped by biological state: beyond gene-environment interaction.Frontiers in genetics · 2026Review
- Bivariate GSA-MiXeR: A Novel Tool for Functional Genomic Analyses Implicates Diverse Neural Cell Types for Psychiatric and Neurodegenerative Disorders.medRxiv : the preprint server for health sciences · 2025Article
- Genetic profiling of the circulating proteome in common diseases suggests causal proteins and improves risk prediction.Nature communications · 2025Article
- Mapping the brain cell-specific regulatory architecture of migraine: a single-cell causal framework nominating inhibitory-neuronal BTBD16 and astrocytic RIMS1 as therapeutic targets.The journal of headache and pain · 2025Article
- Genetic atlas of plasma metabolome across 40 human common diseases: mapping causal metabolites to disease risk.Genome medicine · 2025Article
Corrections and comments
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Authors and funding
35 authors.
Funding
Abstract
Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear. Using 2,348,438 single-nuclei profiles from 391 disease-case and control brains, we report 13,939 genes whose expression correlated with genetic variation, of which 16.7-40.8% (depending on cell type) showed disease-dependent allelic effects. Across 501 colocalizations for 30 CNS traits, 23.6% had a disease dependency, even after adjusting for disease status. To estimate the unconfounded effect of genes on outcomes, we repeated the analysis using nondiseased brains (n = 183) and reported an additional 91 colocalizations not present in the larger mixed disease and control dataset, demonstrating enhanced interpretation of disease-associated variants. Principled implementation of single-cell Mendelian randomization in control-only brains identified 140 putatively causal gene-trait associations, of which 11 were replicated in the UK Biobank, prioritizing candidate peripheral biomarkers predictive of CNS outcomes.
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Registered trials
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 Socratic graph.