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Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression

Overview of attention for article published in BMC Medical Genomics, June 2015
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Title
Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression
Published in
BMC Medical Genomics, June 2015
DOI 10.1186/s12881-015-0190-1
Pubmed ID
Authors

Caroline Montén, Audur H. Gudjonsdottir, Lars Browaldh, Henrik Arnell, Staffan Nilsson, Daniel Agardh, Åsa Torinsson Naluai

Abstract

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. 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. 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. 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 25%
Student > Master 6 19%
Student > Doctoral Student 4 13%
Student > Ph. D. Student 2 6%
Student > Postgraduate 2 6%
Other 6 19%
Unknown 4 13%
Readers by discipline Count As %
Medicine and Dentistry 11 34%
Biochemistry, Genetics and Molecular Biology 6 19%
Agricultural and Biological Sciences 5 16%
Psychology 2 6%
Immunology and Microbiology 1 3%
Other 2 6%
Unknown 5 16%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 July 2015.
All research outputs
#19,942,887
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,566
of 2,444 outputs
Outputs of similar age
#189,160
of 277,312 outputs
Outputs of similar age from BMC Medical Genomics
#40
of 56 outputs
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