ArticleJournal of nanobiotechnology2021
Single cell sequencing analysis identifies genetics-modulated ORMDL3
Article in Journal of nanobiotechnology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 35 citations in OpenAlex.
- CD14+CD16- monocytes exhibit NF-κB hyperactivation in biliary atresia: Clinical association and murine therapeutic validation.Hepatology communications · 2026Article
- Article
- Molecular mechanisms underlying T cell subset imbalance and precision therapeutic targets in primary biliary cholangitis.Frontiers in pharmacology · 2026Review
- Review
- ORMDL3 restrains type I interferon signaling and anti-tumor immunity by promoting RIG-I degradation.eLife · 2025Article
- Systematic dissection of pleiotropic loci and critical regulons in excitatory neurons and microglia relevant to neuropsychiatric and ocular diseases.Translational psychiatry · 2025Article
- Common pathological mechanisms and therapeutic strategies in primary Sjogren's syndrome and primary biliary cholangitis: from tissue immune microenvironment to targeted therapy.Frontiers in immunology · 2025Review
- Advanced omics approaches in liver transplant settings: current applications and future prospectives.Frontiers in immunology · 2025Review
- Integration of human organoids single-cell transcriptomic profiles and human genetics repurposes critical cell type-specific drug targets for severe COVID-19.Cell proliferation · 2024Article
- Transcriptotype-Driven Discovery of Apigenin as a Therapy against Cholestatic Liver Fibrosis: Through Inhibition of PANoptosis and Following Type-I Interferon Responses.Antioxidants (Basel, Switzerland) · 2024Article
- Alterations in gut microbiota and host transcriptome of patients with coronary artery disease.BMC microbiology · 2023Article
- Polygenic regression uncovers trait-relevant cellular contexts through pathway activation transformation of single-cell RNA sequencing data.Cell genomics · 2023Article
- Liver in infections: a single-cell and spatial transcriptomics perspective.Journal of biomedical science · 2023Review
- Identification ofComputational and structural biotechnology journal · 2023Article
- Mechanism-based target therapy in primary biliary cholangitis: opportunities before liver cirrhosis?Frontiers in immunology · 2023Review
- Unraveling the Complexity of Liver Disease One Cell at a Time.Seminars in liver disease · 2022Review
- How genetic risk contributes to autoimmune liver disease.Seminars in immunopathology · 2022Review
- Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19.Genome medicine · 2022Article
- Role of Immune Cells in Biliary Repair.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundPrimary biliary cholangitis (PBC) is a classical autoimmune disease, which is highly influenced by genetic determinants. Many genome-wide association studies (GWAS) have reported that numerous genetic loci were significantly associated with PBC susceptibility. However, the effects of genetic determinants on liver cells and its immune microenvironment for PBC remain unclear.
resultsWe constructed a powerful computational framework to integrate GWAS summary statistics with scRNA-seq data to uncover genetics-modulated liver cell subpopulations for PBC. Based on our multi-omics integrative analysis, 29 risk genes including ORMDL3, GSNK2B, and DDAH2 were significantly associated with PBC susceptibility. By combining GWAS summary statistics with scRNA-seq data, we found that cholangiocytes exhibited a notable enrichment by PBC-related genetic association signals (Permuted P < 0.05). The risk gene of ORMDL3 showed the highest expression proportion in cholangiocytes than other liver cells (22.38%). The ORMDL3
conclusionsTo the best of our knowledge, this is the first study to integrate genetic information with single cell sequencing data for parsing genetics-influenced liver cells for PBC risk. We identified that ORMDL3
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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.