ATG16L1 Crohn's disease risk stresses the endoplasmic reticulum of Paneth cells

摘要

With 163 genetic loci identified to date, genome wide association studies have revealed the significant genetic complexity associated with risk for IBD. Autophagy, pinpointed through the discovery of risk variants in ATG16L1 and other autophagy genes, remains one of the most interesting disease-specific revelations of Crohn's disease genetics. Around a fifth of the overall genetic risk yet known for Crohn's disease may lie in genes that are directly involved in autophagy, including NOD2, which has recently been exposed as an autophagy inducer, a decade after it was reported as the first Crohn's disease risk gene.