Lack of common NOD2 variants in Japanese patients with Crohn's disease

Molecular Approach for Pathophysiology of Digestive Diseases 2. Molecular Biological Studies of the Pathogenesis in Inflammatory Bowel Disease

“…Notably, Ogura et al demonstrated that N0D2is an intracellular receptor for lipopolysaccharide and is exclusively expressed in monocyte/macrophage lineage cells (7). However, we have demonstrated that none possessed these common N0D2variants amongthe subjects in three independent study groups, including CDpatients, UCpatients and healthy controls (8). These results indicate that commonvariants in N0D2found in Caucasian patients with CDare not associated with CDin the Japanese population.…”

The Role of Bacterial Infection in the Pathogenesis of Inflammatory Bowel Disease

“…These data strongly suggest that an interaction between gramnegative bacteria and the intestinal innate immune responses is a critical element in the pathogenesis of CD. Despite these observations, it has recently been reported that a population of Japanese CD patients lack the NOD 2 gene variants, suggesting the need for further study on NOD2 gene polymorphisms (65).…”

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

“…The contribution of the gene has been studied in many diverse populations, [7][8][9][10][11] with positive associations in up to 50% of CD patients. 12 However, data from Japanese, Korean and African-American individuals have not shown an association, [13][14][15] and there are now clear differences between Ashkenazi Jewish and nonJewish populations. 16,17 Most recent data from Ireland and Northern Europe report relatively low allelic frequencies in healthy controls and CD patients (Table 1) and raise the possibility of heterogeneity within European populations of distinct ancestry.…”