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Acute intestinal obstruction and NOD2/CARD15 mutations among Italian Crohn's disease patients
D Guagnozzi1, A Cossu, A Viscido
1Department of Clinical Sciences, La Sapienza University - Rome (Italy).
Insights
Three CARD15 mutations are linked to Crohn's disease (CD) in Italians. Carriers of these mutations show a higher risk of small bowel location and acute intestinal obstruction.
Area of Science:
- Genetics
- Gastroenterology
- Molecular Biology
Background:
- Three CARD15 mutations (SNP8, SNP12, SNP13) are implicated in Crohn's disease (CD).
- Understanding ethnic variations and genotype-phenotype relationships is crucial for CD management.
Purpose of the Study:
- To determine the prevalence of three CARD15 mutations in Italian patients with CD, ulcerative colitis (UC), and healthy controls.
- To investigate genotype-phenotype correlations among Italian CD patients.
Main Methods:
- Direct sequencing was used to identify CARD15 mutations.
- Phenotypic features of CD were assessed.
- Statistical analysis included chi-squared or Fisher's exact tests with Bonferroni correction.
Main Results:
- CARD15 mutations were significantly associated with CD, with 28.6% of CD patients carrying at least one mutation.
- No homozygotes or compound heterozygotes were found in controls or UC patients.
- A significant association was observed between CARD15 mutations (especially OM and CET genotypes) and small bowel location, acute intestinal obstruction at diagnosis, and a trend towards increased surgeries in CD patients.
Conclusions:
- CARD15 mutations are significantly associated with CD in the Italian population.
- Specific genotypes (OM, CET) are linked to small bowel location.
- A novel association was identified between CARD15 mutation carriers and acute intestinal obstruction at diagnosis.
Unlabelled:
Three CARD15 mutations (SNP8, SNP12, SNP13) were significantly associated with CD, however ethnic variations and genotype-phenotype relationships are still to be defined.
Aims:
To evaluate the prevalence of three CARD15 mutations in 91 in-out consecutive CD, 109 Ulcerative Colitis (UC), 101 healthy controls; to examine the genotype-phenotype relationships among italian pts with CD.
Material And Methods:
The three mutations were determined by direct sequencing analysis. In CD were evaluated several feature of disease phenotype. Data analysis was performed by using c2 or Fisher Test applying Bonferroni's correction.
Results:
The allelic and genotype frequencies of CARD15 mutations were significantly associated to CD. None of controls or UC were homozygotes (OM) or compound heterozigotes (CET). In CD the carriers of at least one mutation were 26/91 (28.6%). The frequencies of simple heterozygotes (ET), CET and OM were: 19/26, 4/26, 3/26 respectively. A significant positive association was found between small bowel location and an acute intestinal obstruction at diagnosis and the carriers of at least one mutation (p = 0.036, OR:0.33 [0.12-0.9] and p = 0.0025, OR:0.125 [0.03-0.5], respectively), particularly with OM and CET genotype (p = 0.005, OR:0.07 [0.01-0.6]). A positive trend between the number of surgery and the carriers of at least one mutation was found, but it didn't reach statistical significance (p = 0.0469, OR:0.3 [0.1-0.96]). No relationship between CARD15 mutations and the other phenotype characteristics was found.
Conclusions:
Our data confirms that CARD15 mutations are significantly associated with CD also in Italian population and with small bowel location (OM and CET genotype). A new positive association was also found between the carriers of at least one mutation and the acute intestinal obstruction at diagnosis.
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