ArticleGut2006
Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease.
Article in Gut, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- 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
- [Prospects and mechanistic insights into the use of recombinant human growth hormone in the treatment of pediatric inflammatory bowel disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Anthropometric Trajectories in Children Prior to Development of Inflammatory Bowel Disease.JAMA network open · 2025Article
- Crohn's Disease Pathobiont Adherent-Invasive E coli Disrupts Epithelial Mitochondrial Networks With Implications for Gut Permeability.Cellular and molecular gastroenterology and hepatology · 2021Article
- Growth and Puberty in Children with Inflammatory Bowel Diseases.Biomedicines · 2020Review
- Organic Cation Transporters in Human Physiology, Pharmacology, and Toxicology.International journal of molecular sciences · 2020Review
- Growth failure in pediatric onset inflammatory bowel disease: mechanisms, epidemiology, and management.Translational pediatrics · 2019Review
- ER-stress mobilization of death-associated protein kinase-1-dependent xenophagy counteracts mitochondria stress-induced epithelial barrier dysfunction.The Journal of biological chemistry · 2018Article
- Addition of Histology to the Paris Classification of Pediatric Crohn Disease Alters Classification of Disease Location.Journal of pediatric gastroenterology and nutrition · 2016Article
- Article
- Role of genetics in pediatric inflammatory bowel disease.Inflammatory bowel diseases · 2014Review
- Identification and Functional Characterization of Novel Genetic Variations in the OCTN1 Promoter.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2014Article
- Endocrine therapy for growth retardation in paediatric inflammatory bowel disease.Paediatric drugs · 2014Review
- How does genotype influence disease phenotype in inflammatory bowel disease?Inflammatory bowel diseases · 2013Review
- Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.PloS one · 2010Article
- Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.Annals of human genetics · 2010Article
- Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Pharmacological reviews · 2010Review
- Mechanisms of growth impairment in pediatric Crohn's disease.Nature reviews. Gastroenterology & hepatology · 2009Review
- 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
13 authors at 7 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
aimsThe OCTN1 (SLC22A4 1672C-->T) and OCTN2 (SLC22A5 -207G-->C) variants within the IBD5 locus have been associated with susceptibility to adult onset Crohn's disease (CD), but their contribution in children has not been examined.
methodsThese OCTN1/2 variants and IBD5 marker single nucleotide polymorphisms (SNPs) (IGR2096a_1, IGR2198a_1, and IGR2230a_1) were examined in 299 Scottish children (200 with CD, 74 with ulcerative colitis (UC), and 25 with indeterminate colitis (IC)), together with 502 parents (for transmission disequilibrium testing) and 256 controls.
resultsAll SNPs were in strong linkage disequilibrium (D' >0.94). TDT analysis showed association of the OCTN1 variant with inflammatory bowel disease (IBD) (p = 0.01) and CD (p = 0.04). Allele frequencies of the OCTN1/2 variants were significantly higher in IBD/CD cases (p<0.04). The homozygous mutant OCTN1/2 haplotype was increased in IBD (24.3% v 16.1%, p = 0.02) and UC (28.2% v 16.1%, p = 0.02) compared with controls. The OCTN1/2 variants were not independent of the background IBD5 risk haplotype in conferring disease susceptibility. Unifactorial analysis in CD patients showed that carriage of the TC haplotype was associated with lower weight, height, and BMI centile (<9(th) centile) at diagnosis (weight: 87.9% v 67.3% (p = 0.002), odds ratio (OR) = 3.52 (95% confidence interval, 1.51 to 8.22); height: 84.1% v 68.4% (p<0.05), OR = 2.44 (1.00 to 5.99); BMI: 79.6% v 61.1% (p = 0.02), OR = 2.49 (1.14 to 5.44)), and lower weight centile at follow up (87.5% v 64.6% (p = 0.03), OR = 3.83 (1.03 to 14.24)). Multifactorial binary logistic regression analysis confirmed association of the TC haplotype with lower weight centile at diagnosis (p = 0.02, OR = 3.41 (1.20 to 9.66)).
conclusionsThese data implicate variants within the IBD5 haplotype, as determinants of disease susceptibility and growth indices in early onset IBD. The OCTN1/2 variants remain potential positional candidate genes, but require further analysis.
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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.