Genetic Variants of Wnt Transcription Factor TCF-4 (TCF7L2) Putative Promoter Region Are Associated with Small Intestinal Crohn's Disease
2009

Genetic Variants of TCF-4 Linked to Crohn's Disease

Sample size: 259 publication 10 minutes Evidence: moderate

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)

10.1371/journal.pone.0004496

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