ArticleWorld journal of gastroenterology2016
Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.
Article in World journal of gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.Clinical and experimental immunology · 2022Pooled it
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Exploring genotype-phenotype correlations in three pediatric patients with IL10RA variants and very early-onset inflammatory bowel disease.BMC gastroenterology · 2026Article
- Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review.Orphanet journal of rare diseases · 2025Review
- Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation.Scientific reports · 2025Article
- Oral manifestations serve as potential signs of ulcerative colitis: A review.Frontiers in immunology · 2022Review
- Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.BMC gastroenterology · 2021Article
- Structure-based decoupling of the pro- and anti-inflammatory functions of interleukin-10.Science (New York, N.Y.) · 2021Article
- Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.World journal of gastroenterology · 2021Article
- Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.Gastroenterology · 2020Article
- Evolution of acid nociception: ion channels and receptors for detecting acid.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Review
- Review
- Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.Hereditas · 2019Article
- TL1A (TNFSF15) and DR3 (TNFRSF25): A Co-stimulatory System of Cytokines With Diverse Functions in Gut Mucosal Immunity.Frontiers in immunology · 2019Review
- Study of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.BMC pediatrics · 2018Article
- Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.World journal of gastroenterology · 2018Article
- Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene.World journal of gastroenterology · 2017Article
- IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease.Gastroenterology research · 2017Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients.
methodsA total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS.
resultsOut of the 13 pediatric patients, ten were diagnosed with Crohn's disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight (1.0% vs 27.5%, P = 0.002) and hemoglobin (87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups.
conclusionIL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer prognosis.
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