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Shared Genetic Factors Involved in Celiac Disease, Type 2 Diabetes and Anorexia Nervosa Suggest Common Molecular Pathways for Chronic Diseases

Journal article
Authors Johanna Mostowy
C. Monten
Audur Gudjonsdottir
H. Arnell
L. Browaldh
Staffan Nilsson
D. Agardh
Åsa Torinsson Naluai
Published in PLoS ONE
Volume 11
Issue 8
ISSN 1932-6203
Publication year 2016
Published at Department of Mathematical Sciences
Institute of Biomedicine
Institute of Clinical Sciences, Department of Pediatrics
Language en
Keywords Celiac disease, Gene expressio, Anorexia nervosa, Genome-wide association studies, Genetics of disease, Gastrointestinal tract, RNA extraction, Type 2 diabetes
Subject categories Clinical Medicine


Background and Objectives Genome-wide association studies (GWAS) have identified several genetic regions involved in immune-regulatory mechanisms to be associated with celiac disease. Previous GWAS also revealed an over-representation of genes involved in type 2 diabetes and anorexia nervosa associated with celiac disease, suggesting involvement of common metabolic pathways for development of these chronic diseases. The aim of this study was to extend these previous analyses to study the gene expression in the gut from children with active celiac disease. Thirty six target genes involved in type 2 diabetes and four genes associated with anorexia nervosa were investigated for gene expression in small intestinal biopsies from 144 children with celiac disease at median (range) age of 7.4 years (1.6-17.8) and from 154 disease controls at a median (range) age 11.4. years (1.4-18.3). A total of eleven of genes were differently expressed in celiac patients compared with disease controls of which CD36, CD38, FOXP1, SELL, PPARA, PPARG, AGT previously associated with type 2 diabetes and AKAP6, NTNG1 with anorexia nervosa remained significant after correction for multiple testing. Shared genetic factors involved in celiac disease, type 2 diabetes and anorexia nervosa suggest common underlying molecular pathways for these diseases.

Page Manager: Webmaster|Last update: 9/11/2012

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