ArticleGenes and immunity2004
NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?
Article in Genes and immunity, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 4 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 4 syntheses or guidelines pooled it, 218 citations in OpenAlex.
- Association between TLR2 and TLR4 Gene Polymorphisms and the Susceptibility to Inflammatory Bowel Disease: A Meta-Analysis.PloS one · 2015Pooled it
- Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.BMC gastroenterology · 2014Pooled it
- Association between CD14 gene C-260T polymorphism and inflammatory bowel disease: a meta-analysis.PloS one · 2012Pooled it
- Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease--Are we there yet?World journal of gastroenterology · 2006Pooled it
- Clinical and Genetic Characteristics of Pediatric Patients with Inflammatory Bowel Disease Transitioning to Adult Medicine: A Single-Center Ten-Year Experience.Journal of clinical medicine · 2025Article
- NOD2 and Crohn's Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired.Inflammatory bowel diseases · 2025Review
- Impact of toll-like receptor 4 variations on nasopharyngeal carcinoma risk and survival in tunisian population.La Tunisie medicale · 2024Article
- Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction.Scientific reports · 2022Article
- A Review on Inflammatory Bowel Diseases: Recent Molecular Pathophysiology Advances.Biologics : targets & therapy · 2022Review
- The Molecular Mechanisms of Intestinal Inflammation and Fibrosis in Crohn's Disease.Frontiers in physiology · 2022Review
- Characterizing disease manifestations and treatment outcomes among patients with orofacial granulomatosis in China.JAAD international · 2020Article
- [NOD2 gene mutation in Moroccan patients with Crohn's disease: prevalence, genotypic study and correlation of NOD2 gene mutation with the phenotype of Crohn's disease].The Pan African medical journal · 2017Article
- NOD2/CARD15 gene mutations in patients with gouty arthritis.Bosnian journal of basic medical sciences · 2016Article
- Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.Expert review of clinical immunology · 2016Review
- Association between NOD2/CARD15 gene polymorphisms and Crohn's disease in Chinese Zhuang patients.World journal of gastroenterology · 2014Article
- Positive link between variant Toll-like receptor 4 (Asp299Gly and Thr399Ile) and colorectal cancer patients with advanced stage and lymph node metastasis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- Genetic variants associated with Crohn's disease.The application of clinical genetics · 2013Article
- Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort.International journal of colorectal disease · 2012Article
- CARD15/NOD2, CD14 and toll-like 4 receptor gene polymorphisms in Saudi patients with Crohn's Disease.International journal of molecular sciences · 2012Article
- Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene.Journal of gastroenterology · 2011Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
NOD2/caspase recruitment domain (CARD)15 variants are identified in up to 50% of Crohn's disease (CD) patients. Functional variants of toll-like receptor-4 (TLR4) and CD14 genes may also be relevant to disease pathophysiology. We aimed to assess the contribution of NOD2/CARD15, TLR4 and CD14 variants in Scottish and Irish CD patients. In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). Genotype-phenotype analyses were performed. Variant 1007fsinsC (P=0.003) and G908R (P=0.008) but not R702W (P=0.269) alleles were more prevalent in Scottish CD (4.7, 1.8 and 7.1%, respectively) than Scottish control (2.3, 0.3 and 5.4%). CD allelic frequencies were lower than the series from Europe (P<0.00001) and North America (P<0.00001) but not Scandinavia (P<0.7). Associations were identified with age at diagnosis (P=0.002), ileal disease (P<0.02), penetrating disease (P=0.04) and inflammatory joint disease (P<0.02). TLR4 and CD14 variants did not differ between CD and controls. In conclusion, we present compelling evidence for genetic heterogeneity within Europe. These NOD2/CARD15 variants have a minor contribution in Scottish and Irish CD patients, consistent with an emerging pattern from Northern Europe.
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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.