Evidence map›Paper›PMID 23300620›Full record

ArticlePloS one2012

Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.

Camille Jung, Jean-Frédéric Colombel, Marc Lemann, Laurent Beaugerie, Matthieu Allez, Jacques Cosnes, Gwenola Vernier-Massouille, Jean-Marc Gornet, Jean-Pierre Gendre, Jean-Pierre Cezard and 9 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 8 pooled it
4.5field-weighted citation impact, top 5% 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

20 citing papers in PubMed, 8 syntheses or guidelines pooled it, 46 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Association between ATG16L1 gene polymorphism and the risk of Crohn's disease.The Journal of international medical research · 2017
    Pooled it
  4. Pooled it
  5. Association between NCF4 rs4821544T/C polymorphism and inflammatory bowel disease risk in Caucasian: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2015
    Pooled it
  6. Pooled it
  7. Pooled it
  8. Associations between PTPN2 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2014
    Pooled it
  9. Molecular medicine-based IBD treatment strategies-we take it personally!Frontiers in gastroenterology (Lausanne, Switzerland) · 2023
    Review
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  20. New Trends in Inflammatory Bowel Disease.GE Portuguese journal of gastroenterology
    Review
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

19 authors at 12 institutions in 1 country.

Camille JungUniversité Paris Diderot, UMR843, Paris, France.
Jean-Frédéric Colombel
Marc Lemann
Laurent Beaugerie
Matthieu Allez
Jacques Cosnes
Gwenola Vernier-Massouille
Jean-Marc Gornet
Jean-Pierre Gendre
Jean-Pierre Cezard
Frank M Ruemmele
Dominique Turck
Françoise Merlin
Habib Zouali
Christian Libersa
Philippe Dieudé
Nadem Soufir
Gilles Thomas
Jean-Pierre Hugot
Assistance Publique – Hôpitaux de Paris · FRDélégation Paris 7 · FRFondation Jean Dausset-CEPH · FRHôpital Saint-Antoine · FRHôpital Bichat-Claude-Bernard · FRHôpital Claude Huriez · FRHôpital Jeanne de Flandre · FRHôpital Robert-Debré · FRInserm · FRSorbonne Université · FRUniversité de Lille · FRUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND &

aimsRecent studies reported a role for more than 70 genes or loci in the susceptibility to Crohn's disease (CD). However, the impact of these associations in clinical practice remains to be defined. The aim of the study was to analyse the relationship between genotypes and phenotypes for the main 53 CD-associated polymorphisms.

methodA cohort of 798 CD patients with a median follow up of 7 years was recruited by tertiary adult and paediatric gastroenterological centres. A detailed phenotypic description of the disease was recorded, including clinical presentation, response to treatments and complications. The participants were genotyped for 53 CD-associated variants previously reported in the literature and correlations with clinical sub-phenotypes were searched for. A replication cohort consisting of 722 CD patients was used to further explore the putative associations.

resultsThe NOD2 rare variants were associated with an earlier age at diagnosis (p = 0.0001) and an ileal involvement (OR = 2.25[1.49-3.41] and 2.77 [1.71-4.50] for rs2066844 and rs2066847, respectively). Colonic lesions were positively associated with the risk alleles of IL23R rs11209026 (OR = 2.25 [1.13-4.51]) and 6q21 rs7746082 (OR = 1.60 [1.10-2.34] and negatively associated with the risk alleles of IRGM rs13361189 (OR = 0.29 [0.11-0.74]) and DEFB1 rs11362 (OR = 0.50 [0.30-0.80]). The ATG16L1 and IRGM variants were associated with a non-inflammatory behaviour (OR = 1.75 [1.22-2.53] and OR = 1.50 [1.04-2.16] respectively). However, these associations lost significance after multiple testing corrections. The protective effect of the IRGM risk allele on colonic lesions was the only association replicated in the second cohort (p = 0.03).

conclusionsIt is not recommended to genotype the studied polymorphisms in routine practice.

Indexed as

Genotyping TechniquesPhenotypePolymorphism, Single NucleotideAdolescentAdultAge of OnsetCase-Control StudiesCohort StudiesCrohn DiseaseFemaleHumansMaleMedical RecordsSex FactorsSmokingYoung Adult

Identifiers

PMID23300620
PMCPMC3531408
OpenAlexW2056691295

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.