ArticleGut2003
Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31.
Article in Gut, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 158 citations in OpenAlex.
- Perianal magnetic resonance imaging findings and their potential impact on outcome in children with perianal fistulizing Crohn disease.Pediatric radiology · 2021Article
- Mechanisms of gastrointestinal allergic disorders.The Journal of clinical investigation · 2019Review
- Identification of OCTN2 variants and their association with phenotypes of Crohn's disease in a Korean population.Scientific reports · 2016Article
- Surgical strategies in paediatric inflammatory bowel disease.World journal of gastroenterology · 2015Review
- What is left when anti-tumour necrosis factor therapy in inflammatory bowel diseases fails?World journal of gastroenterology · 2014Review
- Anorectal fistula is an early manifestation of Crohn's disease that occurs before bowel lesions advance: a study of 11 cases.Clinical journal of gastroenterology · 2013Article
- Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population.Journal of negative results in biomedicine · 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
- The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease.BMC medical genetics · 2010Article
- Costimulation of Th17 cells: Adding fuel or putting out the fire in the inflamed gut?Seminars in immunopathology · 2010Review
- Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.American journal of human genetics · 2009Article
- Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions.Inflammatory bowel diseases · 2008Article
- Inflammatory bowel disease: genetic and epidemiologic considerations.World journal of gastroenterology · 2008Review
- Novel genetic markers in inflammatory bowel disease.World journal of gastroenterology · 2007Review
- Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.World journal of gastroenterology · 2007Article
- Article
- Cytokine network in chronic perianal Crohn's disease and indeterminate colitis after colectomy.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2007Article
- Genetics of inflammatory bowel disease: current status and future directions.Canadian journal of gastroenterology = Journal canadien de gastroenterologie · 2006Review
- Article
- Role of discs large homolog 5.World journal of gastroenterology · 2006Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsRecent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in both ulcerative colitis (UC) and Crohn's disease (CD). A locus on chromosome 5q has been implicated in susceptibility to CD, and recently refined by linkage disequilibrium mapping to a conserved 250 kb haplotype (5q31). No data regarding the contribution of this locus to clinical phenotype exist. In this case control study, we investigated the contribution of this haplotype to both susceptibility and phenotype of CD and UC. PATIENTS AND
methodsWe studied 330 Caucasian CD and 457 UC patients recruited from a single UK centre. Association with disease susceptibility and phenotype was analysed with haplotypes reconstructed from three single nucleotide polymorphisms chosen to span this susceptibility region. Evidence for possible genetic epistasis between IBD5 and NOD2/CARD15 was sought.
resultsLinkage disequilibrium across this region was confirmed, with two haplotypes comprising 88% of all chromosomes. Susceptibility to CD, but not to UC, was associated with homozygosity for a common haplotype, H2 (p(c)=0.002; relative risk (RR) 2.0). Genotype-phenotype analyses demonstrated that this association was particularly strong in patients with perianal disease (p(c)=0.0005; RR 1.7), especially in individuals homozygous for this haplotype (p(c)=0.0005; RR 3.0). Importantly, no association with H2 was found in 186 patients without perianal disease. No evidence of epistasis between IBD5 and NOD2/CARD15 was demonstrated.
conclusionsThe IBD5 risk haplotype is associated with CD only. Genotype-phenotype analysis reveals that the strongest association is observed in patients with perianal CD. While the precise gene involved is unclear, these data provide further molecular evidence for a genetic basis of the clinical heterogeneity of CD.
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