Evidence map›Paper›PMID 22914433›Full record

ArticleGenes and immunity2012

Association between genetic variants in the HNF4A gene and childhood-onset Crohn's disease.

V Marcil, D Sinnett, E Seidman, F Boudreau, F-P Gendron, J-F Beaulieu, D Menard, M Lambert, A Bitton, R Sanchez and 2 more

Open access · greenAbstract read
In one paragraph

Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
2.4field-weighted citation impact, top 12% 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

32 citing papers in PubMed, 52 citations in OpenAlex.

  1. A 20 Bp Indel ofAnimals : an open access journal from MDPI · 2026
    Article
  2. Article
  3. Article
  4. Early subclinical stages of the inflammatory bowel diseases: insights from human and animal studies.American journal of physiology. Gastrointestinal and liver physiology · 2025
    Review
  5. DNA methylation in necrotizing enterocolitis.Expert reviews in molecular medicine · 2024
    Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Review
  13. Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT.Circulation. Genomic and precision medicine · 2021
    Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. Article
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

12 authors at 5 institutions in 1 country.

V MarcilDepartments of Medicine and Pediatrics, Research Institute, McGill University, Montreal, Quebec, Canada.
D Sinnett
E Seidman
F Boudreau
F-P Gendron
J-F Beaulieu
D Menard
M Lambert
A Bitton
R Sanchez
D Amre
E Levy
Canadian Institutes of Health Research · CAUniversité de Montréal · CAUniversité de Sherbrooke · CAMcGill University · CACentre Hospitalier Universitaire Sainte-Justine · CA

Funding

CIHR 82942-1CIHR CTP-82942
6 · The paper itself

Abstract

Hepatocyte nuclear 4 alpha (HNF4α), involved in glucose and lipid metabolism, has been linked to intestinal inflammation and abnormal mucosal permeability. Moreover, in a genome-wide association study, the HNF4A locus has been associated with ulcerative colitis. The objective of our study was to evaluate the association between HNF4α genetic variants and Crohn's disease (CD) in two distinct Canadian pediatric cohorts. The sequencing of the HNF4A gene in 40 French Canadian patients led to the identification of 27 single nucleotide polymorphism (SNP)s with a minor allele frequency >5%. To assess the impact of these SNPs on disease susceptibility, we first conducted a case-control discovery study on 358 subjects with CD and 542 controls. We then carried out a replication study in a separate cohort of 416 cases and 1208 controls. In the discovery cohort, the genotyping of the identified SNPs revealed that six were significantly associated with CD. Among them, rs1884613 was replicated in the second CD cohort (odds ratio (OR): 1.33; P<0.012) and this association remained significant when both cohorts were combined and after correction for multiple testing (OR: 1.39; P<0.004). An 8-marker P2 promoter haplotype containing rs1884613 was also found associated with CD (P<2.09 × 10(-4) for combined cohorts). This is the first report showing that the HNF4A locus may be a common genetic determinant of childhood-onset CD. These findings highlight the importance of the intestinal epithelium and oxidative protection in the pathogenesis of CD.

Indexed as

Polymorphism, Single NucleotideAdolescentCanadaCase-Control StudiesChildCrohn DiseaseGene FrequencyGenetic Association StudiesHaplotypesHepatocyte Nuclear Factor 4HumansPromoter Regions, GeneticHepatocyte Nuclear Factor 4HNF4A protein, human

Identifiers

PMID22914433
PMCPMC4931920
OpenAlexW2062812959

What OpenQuestion holds

Textmetadata
LicenceTDM
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.