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Nucleotide oligomerization domain 2 polymorphisms in patients with intestinal failure
Juan Francisco Guerra1, Michael Zasloff, Denver Lough
1Georgetown Transplant Institute, Georgetown University Hospital, Washington, DC 20057, USA. jfguerra@med.puc.cl
Journal of Gastroenterology and Hepatology
|November 24, 2012
Summary
Nucleotide oligomerization domain 2 (NOD2) mutations are significantly more common in patients with intestinal failure (IF) than in healthy individuals. This suggests NOD2 plays a crucial role in maintaining intestinal immune homeostasis beyond Crohn's disease.
Area of Science:
- Immunology
- Genetics
- Gastroenterology
Background:
- Nucleotide oligomerization domain 2 (NOD2) is implicated in intestinal immunity, with polymorphisms linked to Crohn's disease (CD).
- Intestinal failure (IF) signifies a disruption of intestinal homeostasis, encompassing a broad range of conditions.
Purpose of the Study:
- To determine the prevalence of NOD2 mutations in patients with IF.
- To investigate the association between NOD2 mutations and the underlying causes of IF.
Main Methods:
- Genotyping of 192 IF patients and 103 healthy controls for three common NOD2 polymorphisms.
- Comparison of genotype frequencies between IF patients and controls.
- Correlation of NOD2 genotypes with specific IF etiologies.
Main Results:
- A significantly higher percentage (26%) of IF patients carried at least one common NOD2 polymorphism compared to healthy controls (4.8%).
- Specific NOD2 mutations (702W, 1007fs) were found at elevated frequencies in IF patients, even when excluding those with CD.
- No association was found between NOD2 mutant genotypes and IF causes other than CD.
Conclusions:
- The study underscores the critical role of NOD2 in maintaining intestinal immune homeostasis.
- NOD2's involvement extends to various intestinal stressors, highlighting its broader significance in gastrointestinal health.
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