Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
2007

New Gene Linked to Crohn Disease Found

Sample size: 547 publication Evidence: high

Author Information

Author(s): Cécile Libioulle, Louis Edouard, Sarah Hansoul, Cynthia Sandor, Frédéric Farnir, Denis Franchimont, Séverine Vermeire, Olivier Dewit, Martine de Vos, Anna Dixon, Bruno Demarche, Ivo Gut, Simon Heath, Mario Foglio, Liming Liang, Debby Laukens, Myriam Mni, Diana Zelenika, André Van Gossum, Paul Rutgeerts, Jacques Belaiche, Mark Lathrop, Michel Georges

Primary Institution: University of Liège, Belgium

Hypothesis

Can we identify new genetic loci associated with Crohn disease through a genome-wide association study?

Conclusion

The study identified a novel susceptibility locus for Crohn disease on chromosome 5p13.1 that modulates the expression of the PTGER4 gene.

Supporting Evidence

  • The study involved over 300,000 SNPs and a large sample size of patients and controls.
  • Three chromosome regions were identified with significant disease association.
  • The 5p13.1 locus was confirmed in a replication study with additional patients and controls.
  • The identified locus is located within a gene desert and affects the expression of PTGER4.

Takeaway

Scientists found a new part of our DNA that can make people more likely to get Crohn disease, which is a sickness that affects the intestines.

Methodology

A genome-wide association study was conducted using SNP genotyping on 547 Crohn disease patients and 928 controls.

Potential Biases

Potential bias due to population structure and the reliance on specific SNP markers.

Limitations

The study primarily focused on Caucasian populations, which may limit the generalizability of the findings.

Participant Demographics

Caucasian patients from Belgium and France.

Statistical Information

P-Value

p < 4 × 10−4

Statistical Significance

p < 0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.0030058

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