IL23R Variants in Inflammatory Bowel Disease
Author Information
Author(s): Glas Jürgen, Seiderer Julia, Wetzke Martin, Konrad Astrid, Török Helga-Paula, Schmechel Silke, Tonenchi Laurian, Grassl Christine, Dambacher Julia, Pfennig Simone, Maier Kerstin, Griga Thomas, Klein Wolfram, Epplen Jörg T., Schiemann Uwe, Folwaczny Christian, Lohse Peter, Göke Burkhard, Ochsenkühn Thomas, Müller-Myhsok Bertram, Folwaczny Matthias, Mussack Thomas, Brand Stephan
Primary Institution: Department of Medicine II - Grosshadern, University of Munich, Munich, Germany
Hypothesis
The study aims to test the association of IL23R gene variants with inflammatory bowel disease (IBD) in a large German cohort.
Conclusion
IL23R is confirmed as an IBD susceptibility gene in the German population, with rs1004819 being a major risk factor for Crohn's disease.
Supporting Evidence
- All IL23R gene variants analyzed displayed highly significant associations with Crohn's disease.
- The strongest association was found for the SNP rs1004819.
- 93.2% of rs1004819 TT homozygous carriers had ileal involvement compared to 78% of CC wildtype carriers.
- The coding SNP rs11209026 was protective for Crohn's disease.
- Similar, but weaker associations were found in ulcerative colitis.
Takeaway
This study found that certain gene changes in IL23R can make people more likely to get Crohn's disease, especially in Germany.
Methodology
The study analyzed genomic DNA from 2670 individuals, including patients with Crohn's disease and ulcerative colitis, for 10 IL23R SNPs.
Limitations
The analysis of phenotypic consequences was limited to a subgroup of patients with detailed phenotype status available.
Participant Demographics
{"gender":{"male":46.0,"female":54.0},"age":{"mean":39.5,"range":"10-80"}}
Statistical Information
P-Value
1.92×10−11
Confidence Interval
(1.37–1.78)
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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