Evidence map›Paper›PMID 21079743›Full record

ArticlePloS one2010

Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.

Josef Wagner, Winnie H Sim, Justine A Ellis, Eng K Ong, Anthony G Catto-Smith, Donald J S Cameron, Ruth F Bishop, Carl D Kirkwood

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 4 pooled it
1.3field-weighted citation impact, top 18% 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

21 citing papers in PubMed, 4 syntheses or guidelines pooled it, 38 citations in OpenAlex.

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  17. Genetics in PSC: what do the "risk genes" teach us?Clinical reviews in allergy & immunology · 2015
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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

8 authors at 3 institutions in 1 country.

Josef WagnerEnteric Virus Group, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia. josef.wagner@mcri.edu.au
Winnie H Sim
Justine A Ellis
Eng K Ong
Anthony G Catto-Smith
Donald J S Cameron
Ruth F Bishop
Carl D Kirkwood
Murdoch Children's Research Institute · AURoyal Children's Hospital · AUUniversity of Melbourne · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic susceptibility is an important contributor to the pathogenesis of Crohn's disease (CD). We investigated multiple CD susceptibility genes in an Australian paediatric onset CD cohort. Newly diagnosed paediatric onset CD patients (n = 72) and controls (n = 98) were genotyped for 34 single nucleotide polymorphisms (SNPs) in 18 genetic loci. Gene-gene interaction analysis, gene-disease phenotype analysis and genetic risk profiling were performed for all SNPs and all genes. Of the 34 SNPs analysed, four polymorphisms on three genes (NOD2, IL23R, and region 3p21) were significantly associated with CD status (p<0.05). All three CD specific paediatric polymorphisms on PSMG1 and TNFRSF6B showed a trend of association with p<0.1. An additive gene-gene interaction involving TLR4, PSMG1, TNFRSF6B and IRGM was identified with CD. Genes involved in microbial processing (TLR4, PSMG1, NOD2) were significantly associated either at the individual level or in gene-gene interactive roles. Colonic disease was significantly associated with disease SNP rs7517847 (IL23R) (p<0.05) and colonic and ileal/colonic disease was significantly associated with disease SNP rs125221868 (IBD5) and SLC22A4 & SLC22A4/5 variants (p<0.05). We were able to demonstrate genetic association of several genes to CD in a paediatric onset cohort. Several of the observed associations have not been reported previously in association with paediatric CD patients. Our findings demonstrate that CD genetic susceptibility in paediatric patients presents as a complex interaction between numerous genes.

Indexed as

Epistasis, GeneticPolymorphism, Single NucleotideAustraliaChildChi-Square DistributionCohort StudiesCrohn DiseaseGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeGTP-Binding ProteinsHumansLogistic ModelsMembrane ProteinsMolecular ChaperonesGTP-Binding ProteinsIL23R protein, humanIRGM protein, humanMembrane ProteinsMolecular ChaperonesMuscle ProteinsNOD2 protein, humanNod2 Signaling Adaptor ProteinOrganic Cation Transport ProteinsPSMG1 protein, humanReceptors, InterleukinReceptors, Tumor Necrosis Factor, Member 6bSLC22A4 protein, humanSLC22A5 protein, humanSolute Carrier Family 22 Member 5SymportersTLR4 protein, humanTNFRSF6B protein, humanToll-Like Receptor 4

Identifiers

PMID21079743
PMCPMC2975706
OpenAlexW2018360678

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.