UMR 1071 Inserm/Université d'Auvergne, Paris, France.
J Innate Immun. 2013;5(5):434-43. doi: 10.1159/000345129. Epub 2013 Jan 15.
Advances in genetics have shed light on the molecular basis of Crohn's disease (CD) predisposition and pathogenesis, via linkage disequilibrium analysis to genome-wide association studies. The discovery of genetic variants of NOD2, an intracellular pathogen molecular sensor, as risk factors for CD has paved the way for further research on innate immunity in this disease. Remarkably, polymorphisms in autophagy genes, such as ATG16L1 and IRGM, have been identified, allowing the pivotal role of autophagy in innate immunity to be uncovered. In this review, we summarize recent studies on the CD-associated NOD2, ATG16L1 and IRGM risk variants and their contribution to the autophagy functions that have most influenced our understanding of CD pathophysiology.
遗传学的进展通过连锁不平衡分析到全基因组关联研究，揭示了克罗恩病（CD）易感性和发病机制的分子基础。NOD2 是一种细胞内病原体分子传感器，其遗传变异被发现是 CD 的危险因素，为该疾病固有免疫的进一步研究铺平了道路。值得注意的是，自噬基因（如 ATG16L1 和 IRGM）的多态性已被确定，揭示了自噬在固有免疫中的关键作用。在这篇综述中，我们总结了最近关于与 CD 相关的 NOD2、ATG16L1 和 IRGM 风险变异及其对自噬功能的贡献的研究，这些研究最影响了我们对 CD 病理生理学的理解。
