Evidence map›Paper›PMID 23936387›Full record

ArticlePloS one2013

A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.

Malin Östensson, Caroline Montén, Jonas Bacelis, Audur H Gudjonsdottir, Svetlana Adamovic, Johan Ek, Henry Ascher, Elisabet Pollak, Henrik Arnell, Lars Browaldh and 4 more

Open access · goldAbstract readComparative Study
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 2 pooled it
3.8field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.

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  20. Regulation of CD4Frontiers in immunology · 2019
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 5 institutions in 2 countries.

Malin ÖstenssonDepartment of Mathematical Sciences, Chalmers University of Technology, Gothenburg, Sweden.
Caroline Montén
Jonas Bacelis
Audur H Gudjonsdottir
Svetlana Adamovic
Johan Ek
Henry Ascher
Elisabet Pollak
Henrik Arnell
Lars Browaldh
Daniel Agardh
Jan Wahlström
Staffan Nilsson
Åsa Torinsson-Naluai
University of Gothenburg · SEChalmers University of Technology · SEKarolinska Institutet · SELund University · SEDrammen Hospital · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Celiac disease is a common autoimmune disorder characterized by an intestinal inflammation triggered by gluten, a storage protein found in wheat, rye and barley. Similar to other autoimmune diseases such as type 1 diabetes, psoriasis and rheumatoid arthritis, celiac disease is the result of an immune response to self-antigens leading to tissue destruction and production of autoantibodies. Common diseases like celiac disease have a complex pattern of inheritance with inputs from both environmental as well as additive and non-additive genetic factors. In the past few years, Genome Wide Association Studies (GWAS) have been successful in finding genetic risk variants behind many common diseases and traits. To complement and add to the previous findings, we performed a GWAS including 206 trios from 97 nuclear Swedish and Norwegian families affected with celiac disease. By stratifying for HLA-DQ, we identified a new genome-wide significant risk locus covering the DUSP10 gene. To further investigate the associations from the GWAS we performed pathway analyses and two-locus interaction analyses. These analyses showed an over-representation of genes involved in type 2 diabetes and identified a set of candidate mechanisms and genes of which some were selected for mRNA expression analysis using small intestinal biopsies from 98 patients. Several genes were expressed differently in the small intestinal mucosa from patients with celiac autoimmunity compared to intestinal mucosa from control patients. From top-scoring regions we identified susceptibility genes in several categories: 1) polarity and epithelial cell functionality; 2) intestinal smooth muscle; 3) growth and energy homeostasis, including proline and glutamine metabolism; and finally 4) innate and adaptive immune system. These genes and pathways, including specific functions of DUSP10, together reveal a new potential biological mechanism that could influence the genesis of celiac disease, and possibly also other chronic disorders with an inflammatory component.

Indexed as

Genome, HumanAutoimmune DiseasesAutoimmunityCase-Control StudiesCeliac DiseaseChildDual-Specificity PhosphatasesFemaleGenetic LinkageGenome-Wide Association StudyHLA-DQ AntigensHumansImmune SystemIntestinesMaleMitogen-Activated Protein Kinase PhosphatasesDual-Specificity PhosphatasesDUSP10 protein, humanHLA-DQ AntigensMitogen-Activated Protein Kinase Phosphatases

Identifiers

PMID23936387
PMCPMC3732286
OpenAlexW2142777830

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.