ArticleWorld journal of gastroenterology2007
Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.
Article in World journal of gastroenterology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 4 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 4 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- The NOD2-Smoking Interaction in Crohn's Disease is likely Specific to the 1007fs Mutation and may be Explained by Age at Diagnosis: A Meta-Analysis and Case-Only Study.EBioMedicine · 2017Pooled it
- Meta-analysis of associations between DLG5 R30Q and P1371Q polymorphisms and susceptibility to inflammatory bowel disease.Scientific reports · 2016Pooled it
- Association between OCTN1/2 gene polymorphisms (1672C-T, 207G-C) and susceptibility of Crohn's disease: a meta-analysis.International journal of colorectal disease · 2012Pooled it
- Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis.Human genetics · 2011Pooled it
- Inflammation and Organic Cation Transporters Novel (OCTNs).Biomolecules · 2024Review
- Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men.Clinical oral investigations · 2021Article
- Multiplex gene expression profile in inflamed mucosa of patients with Crohn's disease ileal localization: A pilot study.World journal of clinical cases · 2019Article
- Inflammatory bowel disease in pediatric and adolescent patients: a biomolecular and histopathological review.World journal of gastroenterology · 2014Article
- Prevention of colitis-associated cancer: natural compounds that target the IL-6 soluble receptor.Anti-cancer agents in medicinal chemistry · 2012Review
- Role of genetics in the diagnosis and prognosis of Crohn's disease.World journal of gastroenterology · 2012Review
- Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.PloS one · 2010Article
- Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Pharmacological reviews · 2010Review
- IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients.International journal of colorectal disease · 2009Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the contribution of variants of CARD15, OCTN1/2 and DLG5 genes in disease predisposition and phenotypes in a large Italian cohort of pediatric patients with inflammatory bowel diseases (IBD).
methodsTwo hundred patients with Crohn's disease (CD), 186 ulcerative colitis (UC) patients, 434 parents (217 trios), and 347 healthy controls (HC) were studied. Polymorphisms of the three major variants of CARD15, 1672C/T and -207G/C SNPs for OCTN genes, IGR2096a_1 and IGR2198a_1 SNPs for the IBD5 locus, and 113G/A variant of the DLG5 gene were evaluated. Potential correlations with clinical sub-phenotypes were investigated.
resultsPolymorphisms of CARD15 were significantly associated with CD, and at least one variant was found in 38% of patients (15% in HC, OR = 2.7, P < 0.001). Homozygosis for both OCTN1/2 variants was more common in CD patients (1672TT 24%, -207CC 29%) than in HC (16% and 21%, respectively; P = 0.03), with an increased frequency of the TC haplotype (44.8% vs 38.3% in HC, P = 0.04). No association with the DLG5 variant was found. CD carriers of OCTN1/2 and DLG5 variants more frequently had penetrating disease (P = 0.04 and P = 0.01), while carriers of CARD15 more frequently had ileal localization (P = 0.03). No gene-gene interaction was found. In UC patients, the TC haplotype was more frequent (45.4%, P = 0.03), but no genotype/phenotype correlation was observed.
conclusionPolymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD. Polymorphisms of CARD15, OCTN, and DLG5 genes exert a weak influence on CD phenotype.
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