ArticleAmerican journal of human genetics2011
Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Associations between CD24 gene polymorphisms and inflammatory bowel disease: A meta-analysis.World journal of gastroenterology · 2015Pooled it
- Comparative analysis of 105 datasets across species and tissues reveals differential transcriptomic responses to cannabinoids THC and CBD.Journal of cannabis research · 2025Article
- Unravelling the Oral-Gut Axis: Interconnection Between Periodontitis and Inflammatory Bowel Disease, Current Challenges, and Future Perspective.Journal of Crohn's & colitis · 2024Review
- Increased CpG methylation at the CDH1 locus in inflamed ileal mucosa of patients with Crohn disease.Clinical epigenetics · 2024Article
- Identification of antigen-presentation related B cells as a key player in Crohn's disease using single-cell dissecting, hdWGCNA, and deep learning.Clinical and experimental medicine · 2023Article
- NOD2 in Crohn's Disease-Unfinished Business.Journal of Crohn's & colitis · 2023Article
- Impact of Epithelial Cell Shedding on Intestinal Homeostasis.International journal of molecular sciences · 2022Review
- Ubiquitin-specific proteases in inflammatory bowel disease-related signalling pathway regulation.Cell death & disease · 2022Review
- SNX10-mediated LPS sensing causes intestinal barrier dysfunction via a caspase-5-dependent signaling cascade.The EMBO journal · 2021Article
- Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.Human genetics · 2020Review
- Impact of Genes and the Environment on the Pathogenesis and Disease Course of Inflammatory Bowel Disease.Digestive diseases and sciences · 2019Review
- T follicular helper cells restricted by IRF8 contribute to T cell-mediated inflammation.Journal of autoimmunity · 2019Article
- Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease.PLoS genetics · 2017Article
- Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease.American journal of human genetics · 2016Article
- Article
- A novel role for interferon regulatory factor 1 (IRF1) in regulation of bone metabolism.Journal of cellular and molecular medicine · 2014Article
- Refinement in localization and identification of gene regions associated with Crohn disease.American journal of human genetics · 2013Article
- Irf8-regulated genomic responses drive pathological inflammation during cerebral malaria.PLoS pathogens · 2013Article
- Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.Genes and immunityArticle
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Authors and funding
4 authors.
Funding
Abstract
Family studies for Crohn disease (CD) report extensive linkage on chromosome 16q and pinpoint NOD2 as a possible causative locus. However, linkage is also observed in families that do not bear the most frequent NOD2 causative mutations, but no other signals on 16q have been found so far in published genome-wide association studies. Our aim is to identify this missing genetic contribution. We apply a powerful genetic mapping approach to the Wellcome Trust Case-Control Consortium and the National Institute of Diabetes and Digestive and Kidney Diseases genome-wide association data on CD. This method takes into account the underlying structure of linkage disequilibrium (LD) by using genetic distances from LD maps and provides a location for the causal agent. We find genetic heterogeneity within the NOD2 locus and also show an independent and unsuspected involvement of the neighboring gene, CYLD. We find associations with the IRF8 region and the region containing CDH1 and CDH3, as well as substantial phenotypic and genetic heterogeneity for CD itself. The genes are known to be involved in inflammation and immune dysregulation. These findings provide insight into the genetics of CD and suggest promising directions for understanding disease heterogeneity. The application of this method thus paves the way for understanding complex inheritance in general, leading to the dissection of different pathways and ultimately, personalized treatment.
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