ArticleNature genetics2011
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 457 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.
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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
457 citing papers in PubMed, 1 synthesis or guideline pooled it, 778 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
- Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.Scientific reports · 2021Trial
- Crosstalk between the microbiota and intestinal γδ T cell compartments in health and IBD.Gut microbes · 2026Review
- Inflammatory bowel disease treatment: Mechanisms to clinical translation (Review).International journal of molecular medicine · 2026Review
- Innate immune recognition ofInfection and immunity · 2026Article
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.Genome biology · 2026Article
- Activation-induced cytidine deaminase promotes DNA demethylation and expression of the Ninjurin-2 gene.Biology open · 2026Article
- Genomic network analysis links uveitis with systemic inflammatory diseases.medRxiv : the preprint server for health sciences · 2026Article
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Cystic fibrosis risk variants confer protection against inflammatory bowel disease.Cell genomics · 2026Article
- Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts.Cell genomics · 2026Article
- Yeasts in the gastrointestinal tract.FEMS yeast research · 2026Review
- Immunological analysis of Blau syndrome, a unique autoinflammatory state.Frontiers in immunology · 2026Review
- Advances in biosensors for diagnosis and monitoring of inflammatory bowel disease: A review.Bioengineering & translational medicine · 2025Review
- S1PR1 regulates lymphatic valve development and tertiary lymphoid organ formation in the ileum.The Journal of experimental medicine · 2025Article
- Article
- Microbiota in inflammatory bowel disease: mechanisms of disease and therapeutic opportunities.Nature reviews. Microbiology · 2025Review
- Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
397 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors at 16 institutions in 6 countries.
Funding
Abstract
More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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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.