Role of mutations in NOD2/CARD15, ATG16L1, AND IRGM in the Pathogenesis of Crohn’s disease

Igor’ V. Maev, PhD, ScD; Dmitry N. Andreev

Moscow State University of Medicine and Dentistry named after A.I. Evdokimov; Moscow, Russian Federation

*Corresponding author: Dmitry N. Andreev, Moscow State University of Medicine and Dentistry named after A.I. Evdokimov. 20/1 Delegatskaya street, Moscow, 127473, Russian Federation. 

Published: March 25, 2014.


This review article summarizes the issues concerning the pathogenesis of Crohn’s disease (CD) based on the results of large-scale genome-wide association studies. The role of defects in innate immunity associated with mutations in specific genes such as those regulating bacterial pattern recognition (NOD2/CARD15) and autophagy/xenophagy (ATG16L1 and IRGM) in CD is also discussed. Basic pathogenetic hypotheses that aim to interpret the association between specific gene mutations and CD development are presented.

Crohn’s disease; innate immunity; autophagy; xenophagy; microbiota; NOD2/CARD15; ATG16L1; IRGM.
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