ArticleGut2013
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Article in Gut, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.Frontiers in immunology · 2021Pooled it
- Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.Scientific reports · 2016Trial
- Familial associations between ANCA-associated vasculitis and other immune-mediated inflammatory diseases: a case control study.Rheumatology international · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- From mechanism to application: programmed cell death pathways in nanomedicine-driven cancer therapies.Bioactive materials · 2025Review
- ZnO@Cu5.4O Nanoparticle Alleviates Inflammatory Responses of Intestinal Epithelial Cells by Inhibiting the Expression of GSDMB.ACS omega · 2025Article
- SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- To die or not to die: Gasdermins in intestinal health and disease.Seminars in immunology · 2024Review
- Pyroptosis in renal inflammation and fibrosis: current knowledge and clinical significance.Cell death & disease · 2023Review
- Intestinal Epithelial Cell-Related Alternative Splicing Events in Dextran Sodium Sulfate-Induced Acute Colitis.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2023Article
- The gasdermins: a pore-forming protein family expressed in the epidermis.Frontiers in immunology · 2023Review
- Pathophysiological role of BACH transcription factors in digestive system diseases.Frontiers in physiology · 2023Review
- The enigmatic roles of epithelial gasdermin B: Recent discoveries and controversies.Trends in cell biology · 2023Review
- Regulation of gasdermins in pyroptosis and cytokine release.Advances in immunology · 2023Article
- Modulation of macrophage inflammatory function through selective inhibition of the epigenetic reader protein SP140.BMC biology · 2022Article
- Multiple causal variants underlie genetic associations in humans.Science (New York, N.Y.) · 2022Article
- Gasdermins: New Therapeutic Targets in Host Defense, Inflammatory Diseases, and Cancer.Frontiers in immunology · 2022Review
- Molecular and structural aspects of gasdermin family pores and insights into gasdermin-elicited programmed cell death.Biochemical Society transactions · 2021Review
- Pyroptosis, metabolism, and tumor immune microenvironment.Clinical and translational medicine · 2021Review
17 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
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMultiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group.
objectiveTo identify the spectrum of rare and novel variation in known IBD susceptibility genes using exome sequencing analysis in eight individual cases of childhood onset severe disease.
designDNA samples from the eight patients underwent targeted exome capture and sequencing. Data were processed through an analytical pipeline to align sequence reads, conduct quality checks, and identify and annotate variants where patient sequence differed from the reference sequence. For each patient, the entire complement of rare variation within strongly associated candidate genes was catalogued.
resultsAcross the panel of 169 known IBD susceptibility genes, approximately 300 variants in 104 genes were found. Excluding splicing and HLA-class variants, 58 variants across 39 of these genes were classified as rare, with an alternative allele frequency of <5%, of which 17 were novel. Only two patients with early onset Crohn's disease exhibited rare deleterious variations within NOD2: the previously described R702W variant was the sole NOD2 variant in one patient, while the second patient also carried the L1007 frameshift insertion. Both patients harboured other potentially damaging mutations in the GSDMB, ERAP2 and SEC16A genes. The two patients severely affected with ulcerative colitis exhibited a distinct profile: both carried potentially detrimental variation in the BACH2 and IL10 genes not seen in other patients.
conclusionFor each of the eight individuals studied, all non-synonymous, truncating and frameshift mutations across all known IBD genes were identified. A unique profile of rare and potentially damaging variants was evident for each patient with this complex disease.
Indexed as
Identifiers
What OpenQuestion holds
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.