A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn’s Disease

• Published in: International journal of molecular sciences Vol. 20; no. 4; p. 835
• Main Authors: Frade-Proud’Hon-Clerc, Sara, Smol, Thomas, Frenois, Frédéric, Sand, Olivier, Vaillant, Emmanuel, Dhennin, Véronique, Bonnefond, Amélie, Froguel, Philippe, Fumery, Mathurin, Guillon-Dellac, Nathalie, Gower-Rousseau, Corinne, Vasseur, Francis
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 15.02.2019; MDPI
• Subjects: Amino acids; Genetics; Haplotypes; Health risk assessment; Human genetics; Human health and pathology; Hépatology and Gastroenterology; Life Sciences; Proteins; NOD2 gene; WES; Crohn''s disease; variation
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms20040835

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 R7...