Nucleotide oligomerization domain 2 polymorphisms in patients with intestinal failure. Issue 2 (22nd January 2013)

• Record Type: Journal Article
• Authors: Guerra, Juan Francisco; Zasloff, Michael; Lough, Denver; Abdo, Joseph; Hawksworth, Jason; Mastumoto, Cal; Girlanda, Raffaele; Island, Eddie; Shetty, Kirty; Kaufman, Stuart; Fishbein, Thomas
• Is Part Of: Journal of gastroenterology and hepatology. Volume 28:Issue 2(2013:Feb.)
• Page Start: 309
• Page End: 313
• Publication Date: 2013-01-22
• Subjects: Gastroenterology -- Periodicals; Digestive organs -- Diseases -- Periodicals; Liver -- Diseases -- Periodicals; Gastroenterology -- Periodicals; Liver Diseases -- Periodicals; 616.33
• DOI: 10.1111/jgh.12037
• Languages: English
• ISSNs: 0815-9319

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="jgh12037-sec-0001" sec-type="section"> <title>Background</title> <p>Nucleotide oligomerization domain 2 (<italic>NOD2</italic>) has been associated with intestinal immunity after the discovery that its polymorphisms are linked to Crohn's disease (CD). Intestinal failure (IF) represents a wider spectrum of diseases where intestinal homeostasis has been disrupted.</p> </sec> <sec id="jgh12037-sec-0002" sec-type="section"> <title>Aim</title> <p>To evaluate the prevalence of <italic>NOD2</italic> mutations in a population with IF as well as its association with the different conditions causing this problem.</p> </sec> <sec id="jgh12037-sec-0003" sec-type="section"> <title>Methods</title> <p>One hundred ninety‐two consecutive patients with IF and 103 healthy controls were genotyped for the three most common <italic>NOD2</italic> polymorphisms. Genotypes were compared between the groups and were related to the entities causing IF.</p> </sec> <sec id="jgh12037-sec-0004" sec-type="section"> <title>Results</title> <p>A high percentage (26%) of patients had at least one of the three most common <italic>NOD2</italic> polymorphisms, while only a 4.8% of healthy controls had a mutant genotype. In patients with IF, specific mutations for the <italic>702W</italic>, <italic>908R</italic> and <italic>1007fs</italic> alleles were 11, 5 and 12.5%, respectively, compared with 0.9% (<italic>P</italic> = 0.0003), 1.9% (<italic>P</italic> = 0.1) and 1.9% (<italic>P</italic> = 0.001) in the control group. If we consider patients with any cause of IF other than CD, the percentage is still as high as 18.8%, with specific mutation frequencies of 7.6% (702W; <italic>P</italic> = 0.01), 5.8% (908R; <italic>P</italic> = 0.1) and 8.2% (1007fs; <italic>P</italic> = 0.002). We could not establish an association between a <italic>NOD2</italic> mutant genotype with any other specific clinical condition other than CD.</p> </sec> <sec id="jgh12037-sec-0005" sec-type="section"> <title>Conclusion</title> <p>Our finding supports the importance of <italic>NOD2</italic> in the maintenance of intestinal immune homeostasis and may be important to a variety of intestinal stressors.</p> </sec> </abstract>