Genetic Variants of TCF-4 Linked to Crohn's Disease
Author Information
Author(s): Koslowski Maureen J., Kübler Irmgard, Chamaillard Mathias, Schaeffeler Elke, Reinisch Walter, Wang Guoxing, Beisner Julia, Teml Alexander, Peyrin-Biroulet Laurent, Winter Stefan, Herrlinger Klaus R., Rutgeerts Paul, Vermeire Séverine, Cooney Rachel, Fellermann Klaus, Jewell Derek, Bevins Charles L., Schwab Matthias, Stange Eduard F., Wehkamp Jan
Primary Institution: Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, University of Tübingen, Stuttgart, Germany
Hypothesis
Is there a genetic association between TCF-4 variants and ileal Crohn's disease?
Conclusion
The study found a significant association between the TCF-4 SNP rs3814570 and ileal Crohn's disease, particularly in patients with stricturing behavior.
Supporting Evidence
- The study identified eight SNPs in the TCF-4 promoter region.
- Three SNPs were found to be in linkage disequilibrium and more frequent in patients with ileal Crohn's disease.
- The association of rs3814570 with ileal Crohn's disease was significant in multiple cohorts.
Takeaway
Scientists found a gene that might make some people more likely to get a type of gut disease called Crohn's disease, especially if it affects the small intestine.
Methodology
The researchers sequenced the promoter region of TCF-4 in patients with ileal Crohn's disease and healthy controls, identifying SNPs and analyzing their frequency in various cohorts.
Potential Biases
Potential selection bias in patient cohorts and the reliance on self-reported data for some demographic information.
Limitations
The study's sample size was relatively small for some subgroups, and the findings may not be generalizable to all populations.
Participant Demographics
Caucasian patients with Crohn's disease and healthy Caucasian controls.
Statistical Information
P-Value
0.00737
Confidence Interval
95% CI 1.07 to 1.52
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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