ArticlePloS one2016
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis 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.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Clinical Significance of Mucin Signatures in Inflammatory Bowel Diseases: A Systematic Review of Their Expression Patterns, Polymorphisms, and Post-translational Modifications.Inflammatory bowel diseases · 2026Pooled it
- From Cytokines to Biomarkers: Mapping the Immunopathology of Inflammatory Bowel Disease.Cells · 2025Review
- Review
- Narrative review on bacteria-derived metabolites in the pathogenesis of ulcerative colitis.Clinical microbiology reviews · 2025Review
- Winnie Mice: A Chronic and Progressive Model of Ulcerative Colitis.Inflammatory bowel diseases · 2025Review
- The Ulcerative Colitis-Associated Gene NXPE1 Catalyzes Glycan Modifications on Colonic Mucin.Journal of the American Chemical Society · 2025Article
- The Intestinal Mucin Isoform Landscape Reveals Region-Specific Biomarker Panels for Inflammatory Bowel Disease Patient Stratification.Journal of Crohn's & colitis · 2025Article
- The Role of Host Genetics and Intestinal Microbiota and Metabolome as a New Insight into IBD Pathogenesis.International journal of molecular sciences · 2024Review
- Phenotyping of Fecal Microbiota of Winnie, a Rodent Model of Spontaneous Chronic Colitis, Reveals Specific Metabolic, Genotoxic, and Pro-inflammatory Properties.Inflammation · 2022Article
- Article
- The Role and Function of Mucins and Its Relationship to Inflammatory Bowel Disease.Frontiers in medicine · 2022Review
- RNF20 and RNF40 regulate vitamin D receptor-dependent signaling in inflammatory bowel disease.Cell death and differentiation · 2021Article
- Organoids and Their Use in Modeling Gut Epithelial Cell Lineage Differentiation and Barrier Properties During Intestinal Diseases.Frontiers in cell and developmental biology · 2021Review
- The Diverse Roles of the Mucin Gene Cluster Located on Chromosome 11p15.5 in Colorectal Cancer.Frontiers in cell and developmental biology · 2020Review
- Acetylcholinesterase Inhibitor Pyridostigmine Bromide Attenuates Gut Pathology and Bacterial Dysbiosis in a Murine Model of Ulcerative Colitis.Digestive diseases and sciences · 2020Article
- IL-33 Induces Murine Intestinal Goblet Cell Differentiation Indirectly via Innate Lymphoid Cell IL-13 Secretion.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
- The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1.BMC gastroenterology · 2019Article
- Contribution of Non-immune Cells to Activation and Modulation of the Intestinal Inflammation.Frontiers in immunology · 2019Review
- Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.International journal of molecular sciences · 2017Article
- Article
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies have revealed several common genetic risk variants for ulcerative colitis (UC). However, little is known about the contribution of rare, large effect genetic variants to UC susceptibility. In this study, we performed a deep targeted re-sequencing of 122 genes in Dutch UC patients in order to investigate the contribution of rare variants to the genetic susceptibility to UC. The selection of genes consists of 111 established human UC susceptibility genes and 11 genes that lead to spontaneous colitis when knocked-out in mice. In addition, we sequenced the promoter regions of 45 genes where known variants exert cis-eQTL-effects. Targeted pooled re-sequencing was performed on DNA of 790 Dutch UC cases. The Genome of the Netherlands project provided sequence data of 500 healthy controls. After quality control and prioritization based on allele frequency and pathogenicity probability, follow-up genotyping of 171 rare variants was performed on 1021 Dutch UC cases and 1166 Dutch controls. Single-variant association and gene-based analyses identified an association of rare variants in the MUC2 gene with UC. The associated variants in the Dutch population could not be replicated in a German replication cohort (1026 UC cases, 3532 controls). In conclusion, this study has identified a putative role for MUC2 on UC susceptibility in the Dutch population and suggests a population-specific contribution of rare variants to UC.
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