{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T05:14:03Z","timestamp":1761110043549,"version":"3.37.3"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,1,22]],"date-time":"2013-01-22T00:00:00Z","timestamp":1358812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001258","name":"ROCHE Organ Transplant Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001258","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ucleotide oligomerization domain 2 (<jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic>) has been associated with intestinal immunity after the discovery that its polymorphisms are linked to <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>rohn's disease (<jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>). Intestinal failure (<jats:styled-content style=\"fixed-case\">IF<\/jats:styled-content>) represents a wider spectrum of diseases where intestinal homeostasis has been disrupted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>To evaluate the prevalence of <jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic> mutations in a population with IF as well as its association with the different conditions causing this problem.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One hundred ninety\u2010two consecutive patients with IF and 103 healthy controls were genotyped for the three most common <jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic> polymorphisms. Genotypes were compared between the groups and were related to the entities causing IF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A high percentage (26%) of patients had at least one of the three most common <jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic> polymorphisms, while only a 4.8% of healthy controls had a mutant genotype. In patients with <jats:styled-content style=\"fixed-case\">IF<\/jats:styled-content>, specific mutations for the <jats:italic>702W<\/jats:italic>, <jats:italic>908R<\/jats:italic> and <jats:italic>1007fs<\/jats:italic> alleles were 11, 5 and 12.5%, respectively, compared with 0.9% (<jats:italic>P<\/jats:italic>\u2009=\u20090.0003), 1.9% (<jats:italic>P<\/jats:italic>\u2009=\u20090.1) and 1.9% (<jats:italic>P<\/jats:italic>\u2009=\u20090.001) in the control group. If we consider patients with any cause of IF other than <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>, the percentage is still as high as 18.8%, with specific mutation frequencies of 7.6% (702W; <jats:italic>P<\/jats:italic>\u2009=\u20090.01), 5.8% (908R; <jats:italic>P<\/jats:italic>\u2009=\u20090.1) and 8.2% (1007fs; <jats:italic>P<\/jats:italic>\u2009=\u20090.002). We could not establish an association between a <jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic> mutant genotype with any other specific clinical condition other than <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our finding supports the importance of <jats:italic><jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2<\/jats:italic> in the maintenance of intestinal immune homeostasis and may be important to a variety of intestinal stressors.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jgh.12037","type":"journal-article","created":{"date-parts":[[2012,11,22]],"date-time":"2012-11-22T18:25:08Z","timestamp":1353608708000},"page":"309-313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>N<\/scp>ucleotide oligomerization domain 2 polymorphisms in patients with 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