ArticleGut2012
NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.
Article in Gut, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 111 papers, 3 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
111 citing papers in PubMed, 3 syntheses or guidelines pooled it, 177 citations in OpenAlex.
- Immunochip Meta-Analysis of Inflammatory Bowel Disease Identifies Three Novel Loci and Four Novel Associations in Previously Reported Loci.Journal of Crohn's & colitis · 2018Pooled it
- TNFRSF1B Is Associated with ANCA in IBD.Inflammatory bowel diseases · 2016Pooled it
- Association between NCF4 rs4821544T/C polymorphism and inflammatory bowel disease risk in Caucasian: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2015Pooled it
- Germline variation in NCF4, an innate immunity gene, is associated with an increased risk of colorectal cancer.International journal of cancer · 2014Trial
- Temporal transcriptomic profiling identifies core regulators in cytokine-induced gut barrier disruption in differentiated Caco-2 cells.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- From Gene Expression to Candidate Biomarkers in Ulcerative Colitis: Aquaporin-9 in Neutrophil Extracellular Traps Formation Pathways.Iranian journal of medical sciences · 2026Article
- Inhibition of ferroptosis-related NCF2 blocks the progression of lupus nephritis by activating PPARα pathway.Hereditas · 2025Article
- Mechanisms and implications of the gut microbial modulation of intestinal metabolic processes.npj metabolic health and disease · 2025Review
- Host-pathobiont interactions in Crohn's disease.Nature reviews. Gastroenterology & hepatology · 2025Review
- Decoding Immunobiology Through Genetic Errors of Immunity.Annual review of immunology · 2025Review
- Innate Immunity Reimagined: Metabolic Reprogramming as a Gateway to Novel Therapeutics.International journal of biological sciences · 2025Review
- NCF2 as a Novel Diagnostic Biomarker in Ulcerative Colitis: Linking Macrophage Infiltration to Immune Dysregulation via Multi-Omics Analysis.Journal of inflammation research · 2025Article
- Key Disease-Related Genes and Immune Cell Infiltration Landscape in Inflammatory Bowel Disease: A Bioinformatics Investigation.International journal of molecular sciences · 2024Article
- Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.Immunological reviews · 2024Review
- MTDH enhances radiosensitivity of head and neck squamous cell carcinoma by promoting ferroptosis based on a prognostic signature.Journal of radiation research · 2024Article
- Fiber-deficient diet inhibits colitis through the regulation of the niche and metabolism of a gut pathobiont.Cell host & microbe · 2023Article
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.Journal of clinical immunology · 2023Article
- NADAntioxidants (Basel, Switzerland) · 2023Review
- Article
- Role of Rho GTPases in inflammatory bowel disease.Cell death discovery · 2023Review
51 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
23 authors at 7 institutions in 4 countries.
Funding
Abstract
objectiveThe NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in the killing of microbes by phagocytes. Genetic mutations in genes encoding components of the complex result in both X-linked and autosomal recessive forms of chronic granulomatous disease (CGD). Patients with CGD often develop intestinal inflammation that is histologically similar to Crohn's colitis, suggesting a common aetiology for both diseases. The aim of this study is to determine if polymorphisms in NOX2 NADPH oxidase complex genes that do not cause CGD are associated with the development of inflammatory bowel disease (IBD).
methodsDirect sequencing and candidate gene approaches were used to identify susceptibility loci in NADPH oxidase complex genes. Functional studies were carried out on identified variants. Novel findings were replicated in independent cohorts.
resultsSequence analysis identified a novel missense variant in the neutrophil cytosolic factor 2 (NCF2) gene that is associated with very early onset IBD (VEO-IBD) and subsequently found in 4% of patients with VEO-IBD compared with 0.2% of controls (p=1.3×10(-5), OR 23.8 (95% CI 3.9 to 142.5); Fisher exact test). This variant reduced binding of the NCF2 gene product p67(phox) to RAC2. This study found a novel genetic association of RAC2 with Crohn's disease (CD) and replicated the previously reported association of NCF4 with ileal CD.
conclusionThese studies suggest that the rare novel p67(phox) variant results in partial inhibition of oxidase function and are associated with CD in a subgroup of patients with VEO-IBD; and suggest that components of the NADPH oxidase complex are associated with CD.
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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.