ArticleGut and liver2015
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Article in Gut and liver, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.Clinical and experimental immunology · 2022Pooled it
- Immune-microbe interactions in pediatric ulcerative colitis: clinical features, pathogenesis, and novel targeted therapeutic strategies.Frontiers in immunology · 2026Review
- Genetic variants associated with chronic postsurgical pain: evidence from the China Surgery and Anaesthesia Cohort study.British journal of anaesthesia · 2025Observational
- ATG16L2 overexpression is associated with a good prognosis in colorectal cancer.Journal of gastrointestinal oncology · 2021Article
- Distinct Tissue-Specific Roles for the Disease-Associated Autophagy Genes ATG16L2 and ATG16L1.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
- Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.Immunological reviews · 2019Review
- How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsThe aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making.
methodsDNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD.
resultsEighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband.
conclusionsThe presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.
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