ArticleBMC medical genetics2015
Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Multiple allelic associations from genes involved in energy metabolism were identified in celiac disease.Journal of biosciences · 2021Pooled it
- Convergent Functional Genomic Evolution Underlying Repeated Freshwater Colonization in Cetaceans.Journal of molecular evolution · 2026Article
- Gene expression regulation and polyadenylation in ulcerative colitis via long-chain RNA sequencing.BMC genomics · 2025Article
- Intestinal gluconeogenesis is downregulated in pediatric patients with celiac disease.BMC medicine · 2022Article
- Transcriptome Analysis Reveals the Profile of Long Non-coding RNAs During Chicken Muscle Development.Frontiers in physiology · 2021Article
- Low expression of NCALD is associated with chemotherapy resistance and poor prognosis in epithelial ovarian cancer.Journal of ovarian research · 2020Article
- Article
- The Transcriptomic Analysis of Circulating Immune Cells in a Celiac Family Unveils Further Insights Into Disease Pathogenesis.Frontiers in medicine · 2018Article
- Role of proneurotensin as marker of paediatric coeliac disease.Clinical and experimental immunology · 2016Article
- Immunopathogenesis and therapeutic approaches in pediatric celiac disease.Expert review of clinical immunology · 2016Review
- Article
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRisk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also to test if the non-coding variants affect nearby gene expression levels in children with celiac disease.
methodsIntestinal biopsy and peripheral blood RNA was isolated from 167 children with celiac disease, 61 with potential celiac disease and 174 disease controls. Transcript levels for 88 target genes, selected from celiac disease risk loci, were analyzed in biopsies of a smaller sample subset by qPCR. Differentially expressed genes (3 from the pilot and 8 previously identified) were further validated in the larger sample collection (n = 402) of both tissues and correlated to nearby celiac disease risk variants.
resultsAll genes were significantly down- or up-regulated in the intestinal mucosa of celiac disease children, NTS being most down-regulated (Fold change 3.6, p < 0.001). In contrast, PPP1R12B isoform C was up-regulated in the celiac disease mucosa (Fold change 1.9, p < 0.001). Allele specific expression of GLS (rs6741418, p = 0.009), INSR (rs7254060, p = 0.003) and NCALD (rs652008, p = 0.005) was also detected in the biopsies. Two genes (APPL2 and NCALD) were differentially expressed in peripheral blood but no allele specific expression was observed in this tissue.
conclusionThe differential expression of NTS and PPP1R12B indicate a potential role for smooth muscle contractility and cell proliferation in celiac disease, whereas other genes like GLS, NCALD and INSR suggests involvement of nutrient signaling and energy homeostasis in celiac disease pathogenesis. A disturbance in any of these pathways might contribute to development of childhood celiac disease.
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