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Jack Silver, The Importance of Penetration, Inflammatory Bowel Diseases, Volume 9, Issue 5, 1 September 2003, Page 341, https://doi.org/10.1097/00054725-200309000-00012
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Card15 and Crohn's disease: healthy homozygous carriers of the 3020insC frameshift mutation. van der Linde K, Boor PP, Houwing-Duistermaat JJ, Kuipers EJ, Wilson JH, de Rooij FW. Am J Gastroenterol 2003;98:613–7.
The authors show that the 3020ins mutation in the nod2/CARD15 gene greatly increases the risk of developing Crohn's disease (CD) in the Dutch population. In a study of 61 patients with CD, the authors found three individuals who were homozygous for this mutation, whereas none of 113 patients with ulcerative colitis or healthy controls were homozygous for this mutation, leading to a genotypic relative risk of 178 for the homozygous state. Nevertheless, the authors describe a family consisting of five siblings, two of whom were diagnosed with CD at an early age, in which two additional siblings are also homozygous for the 3020ins mutation but display no symptoms of CD.
Comments
Among genetically-based diseases, CD is considered a “complex” disease because 1) there are clearly multiple pathways leading to similar pathologies, with each pathway presumably determined by a defect in a different gene, and 2) the presence of these genetic defects does not ensure, but only increases, the risk that such an individual will develop the disease. This latter point is cogently demonstrated by the article by van der Linde et al. showing that multiple individuals in a family who are homozygous for a defect in the nod2/CARD15 gene show no evidence of CD or its symptoms.
