ArticleGastroenterology2020
Collagenous Colitis Is Associated With HLA Signature and Shares Genetic Risks With Other Immune-Mediated Diseases.
Article in Gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Colonic neoplasia and celiac disease: A systematic review.World journal of gastroenterology · 2025Pooled it
- Independent and joint effects of lifestyle, human leukocyte antigen polymorphisms on cancer risk: findings from the UK Biobank.Frontiers in immunology · 2026Article
- Genetically Validated Immune Susceptibility Markers for Crohn's Disease: A Multi-Omics Mendelian Randomization Analysis.JGH open : an open access journal of gastroenterology and hepatology · 2026Article
- Collagenous colitis in patients treated for cancer: role of immune checkpoint inhibitors. Clinical, histological and immunological features in 15 cases.Histopathology · 2025Article
- Dissecting Microscopic Colitis Immunopathophysiology: Insights From Basic Research.United European gastroenterology journal · 2025Review
- Single-cell transcriptomic characterization of microscopic colitis.Nature communications · 2025Article
- Update on the Epidemiology and Management of Microscopic Colitis.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Review
- Review
- A Literature Review of Microscopic Colitis.Cureus · 2024Review
- Predominant Antibody Deficiency and Risk of Microscopic Colitis: a Nationwide Case-Control Study in Sweden.Journal of clinical immunology · 2023Article
- Microscopic Colitis: Pathogenesis and Diagnosis.Journal of clinical medicine · 2023Review
- Celiac disease and risk of microscopic colitis: A nationwide population-based matched cohort study.United European gastroenterology journal · 2023Article
- HLA inherence as a potential parameter in checkpoint inhibitor-associated autoimmune adverse event assessment.Frontiers in medicine · 2023Article
- Collagenous colitis associated with novel sprue-like intestinal diseases.Gastroenterology and hepatology from bed to bench · 2023Review
- Microscopic colitis: an update.Medicine and pharmacy reports · 2022Review
- Article
- Diagnosis and Management of Microscopic Colitis in Pediatric Patients.Paediatric drugs · 2022Review
- Article
- Insights into the underlying mechanisms and clinical management of microscopic colitis in relation to other gastrointestinal disorders.Gastroenterology report · 2022Review
- Mucosa associated invariant T and natural killer cells in active and budesonide treated collagenous colitis patients.Frontiers in immunology · 2022Article
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 5 countries.
Funding
Abstract
BACKGROUND &
aimsCollagenous colitis (CC) is an inflammatory bowel disorder with unknown etiopathogenesis involving HLA-related immune-mediated responses and environmental and genetic risk factors. We carried out an array-based genetic association study in a cohort of patients with CC and investigated the common genetic basis between CC and Crohn's disease (CD), ulcerative colitis (UC), and celiac disease.
methodsDNA from 804 CC formalin-fixed, paraffin-embedded tissue samples was genotyped with Illumina Immunochip. Matching genotype data on control samples and CD, UC, and celiac disease cases were provided by the respective consortia. A discovery association study followed by meta-analysis with an independent cohort, polygenic risk score calculation, and cross-phenotype analyses were performed. Enrichment of regulatory expression quantitative trait loci among the CC variants was assessed in hemopoietic and intestinal cells.
resultsThree HLA alleles (HLA-B∗08:01, HLA-DRB1∗03:01, and HLA-DQB1∗02:01), related to the ancestral haplotype 8.1, were significantly associated with increased CC risk. We also identified an independent protective effect of HLA-DRB1∗04:01 on CC risk. Polygenic risk score quantifying the risk across multiple susceptibility loci was strongly associated with CC risk. An enrichment of expression quantitative trait loci was detected among the CC-susceptibility variants in various cell types. The cross-phenotype analysis identified a complex pattern of polygenic pleiotropy between CC and other immune-mediated diseases.
conclusionsIn this largest genetic study of CC to date with histologically confirmed diagnosis, we strongly implicated the HLA locus and proposed potential non-HLA mechanisms in disease pathogenesis. We also detected a shared genetic risk between CC, celiac disease, CD, and UC, which supports clinical observations of comorbidity.
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