Background: Risk 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.
Methods: Intestinal 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.
Results: All 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.
Conclusion: The 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630939 | PMC |
| http://dx.doi.org/10.1186/s12881-015-0190-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Outcomes Following Fenestrated/Branched Endovascular Aortic Repair for Failed Open Infrarenal Aortic Repair Compared with Primary Fenestrated/Branched Endovascular Aortic Repair.
J Vasc Surg
January 2025
Division of Vascular and Endovascular Surgery, Beth Israel Deaconess Medical Center, Boston, MA. Electronic address:
Objective: As aneurysmal disease is progressive, proximal disease progression and para-anastomotic aneurysms are complications experienced after open infrarenal abdominal aortic aneurysm repair (AAA). As such, fenestrated or branched endovascular repair (F/BEVAR) may be indicated in these patients. Data describing fenestrated endovascular aneurysm repair after prior open repair are limited to institutional databases.
View Article and Find Full Text PDFPharmacology of Intestinal Inflammation and Repair.
Annu Rev Pharmacol Toxicol
January 2025
Institute of Digestive Health Research (IRSD), Toulouse University, INSERM 1022, INRAe, ENVT, University of Toulouse III Paul Sabatier, Toulouse, France;
Chronic inflammation is a common trait in the pathogenesis of several diseases of the gut, including inflammatory bowel disease and celiac disease. Control of the inflammatory response is crucial in these pathologies to avoid tissue destruction and loss of intestinal function. Over the last 50 years, the identification of the mechanisms and mediators involved in the acute phase of the inflammatory response, which is characterized by massive leukocyte recruitment, has led to a number of therapeutic options.
View Article and Find Full Text PDFCase report: Looking for relationship between type 1 diabetes and chronic recurrent osteomyelitis: short literature review and case presentation.
Front Endocrinol (Lausanne)
January 2025
Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Background: Childhood autoimmune disorders involve the immune system attacking its own tissues, leading to varied symptoms, while autoinflammatory disorders result from innate immune system dysregulation, both requiring extensive diagnosis and multidisciplinary management due to their complexity.
Case Presentation: We present a unique clinical case of a teenager with a combination of autoimmune and autoinflammatory disorders. The initial manifestation of hip pain, coupled with progressive symptoms over several years and findings in multiple magnetic resonance imaging (MRI) scans, culminated in the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO).
A Complex, Convexity, Anterior Superior Sagittal Sinus Dural Arteriovenous Fistula Secondary to Venous Sinus Thrombosis.
Cureus
December 2024
Neurosurgery, Queens Hospital Center, Romford, GBR.
We report the management of a convexity dural arteriovenous fistula (dAVF) in an uncommon anterior superior sagittal sinus (SSS) location. This was a high-risk Cognard IIa+b dAVF, which is notoriously complex to treat. Endoscopic management alone for complex SSS dAVFs is challenging due to the often bilateral arterial supply to the fistula, as demonstrated in this case.
View Article and Find Full Text PDFThe Prevalence of Autoimmune Diseases Among Children With Type I Diabetes Mellitus.
Cureus
December 2024
Paediatrics, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Background Type I diabetes mellitus (T1DM) is a prevalent chronic illness that typically manifests in childhood. In patients who are genetically predisposed to diabetes, complex interactions between environmental and genetic factors play a role in the development of type 1 diabetes. There is proof that the onset of type 1 diabetes raises the possibility of developing additional autoimmune conditions.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!