A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease.

ABSTRACT: The NOD2 gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn's Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected members were related to a high frequency of NOD2 gene variations, such as R702W, G908R, and 1007fs, and were reported in the EPIMAD Registry. However, some rare CD multiplex families were described without identification of common NOD2 linked-to-disease variations. In order to identify new genetic variation(s) closely linked with CD, whole exome sequencing was performed on available subjects, comprising four patients in two generations affected with Crohn's disease without R702W and G908R variation and three unaffected related subjects. A rare and, not yet, reported mis

SUBMITTER: Frade-Proud'Hon-Clerc S 

PROVIDER: S-EPMC6412783 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature