ArticleScience (New York, N.Y.)2022
Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease.
Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 416 papers, 6 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
416 citing papers in PubMed, 6 syntheses or guidelines pooled it, 596 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Investigating the shared genetic architecture between inflammatory bowel disease and pancreatitis: a genome-wide cross-trait analysis.Molecular genetics and genomics : MGG · 2026Pooled it
- Cross-ancestry analysis of gestational diabetes mellitus identifies novel loci, drug targets and biological pathways.Frontiers in endocrinology · 2026Pooled it
- Pooled it
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- Optimized summary-statistic-based single-cell eQTL meta-analysis.Scientific reports · 2025Pooled it
- Integrating multiple omics approaches to identify AIF1 as a protective factor in IgA nephropathy.Journal of translational autoimmunity · 2026Article
- Co-regulation confounds direction of genetic effects in transcriptome-wide association studies.Nature genetics · 2026Article
- CellDiffusion: Enhancing scRNA-seq data integration with accurate inference of cell-cell association.Science advances · 2026Article
- Cross-scale genetic analysis prioritizes shared regulatory variation, cell-type contributions, co-expression programs, and exon-level patterns in atopic dermatitis and asthma.Functional & integrative genomics · 2026Article
- Article
- Immune Cell-Stratified Regulatory Contexts Associated With BMI-Related Multi-System Disease Risk: A Cell-Stratified Mendelian Randomization Study Using Single-Cell eQTL Data.Diabetes, obesity & metabolism · 2026Article
- Single-nucleus atlas of cell-type specific genetic regulation in the human brain.Nature genetics · 2026Article
- Integrative TWAS and multi-omics analyses prioritize HSPE1 as a candidate risk gene for bipolar disorder with immune cell-specific regulatory evidence.European archives of psychiatry and clinical neuroscience · 2026Article
- Article
- Utilizing single-cell data for per-cell type eQTL mapping in the human pancreas.bioRxiv : the preprint server for biology · 2026Article
- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
- Fast, flexible analysis of differences in cellular composition with crumblr.Nature communications · 2026Article
- Personalized single-cell transcriptomics reveals molecular diversity in Alzheimer's disease.Nature communications · 2026Article
- Scalable context-dependent single-cell eQTL mapping reveals disease-relevant regulatory variation beyond static models.medRxiv : the preprint server for health sciences · 2026Article
356 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
The human immune system displays substantial variation between individuals, leading to differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing (scRNA-seq) data from 1,267,758 peripheral blood mononuclear cells from 982 healthy human subjects. For 14 cell types, we identified 26,597 independent cis-expression quantitative trait loci (eQTLs) and 990 trans-eQTLs, with most showing cell type-specific effects on gene expression. We subsequently show how eQTLs have dynamic allelic effects in B cells that are transitioning from naïve to memory states and demonstrate how commonly segregating alleles lead to interindividual variation in immune function. Finally, using a Mendelian randomization approach, we identify the causal route by which 305 risk loci contribute to autoimmune disease at the cellular level. This work brings together genetic epidemiology with scRNA-seq to uncover drivers of interindividual variation in the immune system.
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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 OpenQuestion graph.