ArticleNature genetics2022
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 4 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 4 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Oxidative stress gene expression, DNA methylation, and gut microbiota interaction trigger Crohn's disease: a multi-omics Mendelian randomization study.BMC medicine · 2023Pooled it
- TIGER: The gene expression regulatory variation landscape of human pancreatic islets.Cell reports · 2021Pooled it
- Pooled it
- Genetic-Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis.Annals of neurology · 2026Article
- A regulatory 24-bp insertion at the BCO2 gene region is associated with yellow skin in chickens.Genetics, selection, evolution : GSE · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Identifying genetic and cellular connections and distinctions among 15 autoimmune diseases using an in-silico approach.Communications medicine · 2026Article
- Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.Cell reports · 2026Article
- Article
- Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation.The Journal of experimental medicine · 2025Article
- Comprehensive Multi-omics Analysis of Regulatory Variants for Body Weight in Cattle.Genomics, proteomics & bioinformatics · 2025Article
- A multi-tissue atlas of allelic-specific expression reveals the characteristics, mechanisms, and relationship with dominant effects in cattle.BMC biology · 2025Article
- Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics.Inflammatory bowel diseases · 2025Review
- Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.Frontiers in immunology · 2025Review
- Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.Nature communications · 2024Article
- Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci.Nature communications · 2024Article
- Insertions and Deletions: Computational Methods, Evolutionary Dynamics, and Biological Applications.Molecular biology and evolution · 2024Review
- Non-coding variants impact cis-regulatory coordination in a cell type-specific manner.Genome biology · 2024Article
- Genetic mapping across autoimmune diseases reveals shared associations and mechanisms.Nature genetics · 2024Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 4 countries.
Funding
Abstract
The resolution of causal genetic variants informs understanding of disease biology. We used regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects to fine-map putative causal variants for 12 immune-mediated diseases. We identify 340 unique loci that colocalize with high posterior probability (≥98%) with regulatory QTLs and apply Bayesian frameworks to fine-map associations at each locus. We show that fine-mapping credible sets derived from regulatory QTLs are smaller compared to disease summary statistics. Further, they are enriched for more functionally interpretable candidate causal variants and for putatively causal insertion/deletion (INDEL) polymorphisms. Finally, we use massively parallel reporter assays to evaluate candidate causal variants at the ITGA4 locus associated with inflammatory bowel disease. Overall, our findings suggest that fine-mapping applied to disease-colocalizing regulatory QTLs can enhance the discovery of putative causal disease variants and enhance insights into the underlying causal genes and molecular mechanisms.
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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.