Systematic Association Mapping Identifies NELL1 as a Novel IBD Disease Gene
2007

Identifying NELL1 as a New Gene Linked to Crohn's Disease

Sample size: 393 publication 10 minutes Evidence: high

Author Information

Author(s): Franke Andre, Hampe Jochen, Rosenstiel Philip, Becker Christian, Wagner Florian, Häsler Robert, Little Randall D., Huse Klaus, Ruether Andreas, Balschun Tobias, Wittig Michael, ElSharawy Abdou, Mayr Gabriele, Albrecht Mario, Prescott Natalie J., Onnie Clive M., Fournier Hélène, Keith Tim, Radelof Uwe, Platzer Matthias, Mathew Christopher G., Stoll Monika, Krawczak Michael, Nürnberg Peter, Schreiber Stefan

Primary Institution: Institute for Clinical Molecular Biology, Christian-Albrechts University Kiel, Kiel, Germany

Hypothesis

Is NELL1 a novel susceptibility gene for Crohn's disease?

Conclusion

The study identifies NELL1 as a significant genetic risk factor for Crohn's disease.

Supporting Evidence

  • NELL1 showed a consistent disease association in independent German population and family-based samples.
  • Replication in a large German ulcerative colitis sample indicated that NELL1 is a ubiquitous IBD susceptibility locus.
  • Fine mapping and replication in an independent sample of French/Canadian CD trios supported the authenticity of the NELL1 association.

Takeaway

Researchers found a new gene, NELL1, that can make people more likely to get Crohn's disease, which is a type of gut problem.

Methodology

A multi-stage genome-wide association scan was conducted using SNP arrays on cases and controls.

Potential Biases

Potential bias due to population stratification was addressed through careful sample selection.

Limitations

The study's findings may not be generalizable beyond the populations studied.

Participant Demographics

The study involved German Crohn's disease patients and controls.

Statistical Information

P-Value

p<10−6

Confidence Interval

95% CI: 1.30–2.11

Statistical Significance

p<10−6

Digital Object Identifier (DOI)

10.1371/journal.pone.0000691

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