rs2241880
rs2241880 is the ATG16L1 Thr300Ala (T300A) missense variant, an A-to-G coding change in the autophagy gene ATG16L1. The Ala300 protein is more rigid and thermodynamically stable, which alters caspase-3 cleavage and impairs WIPI2b binding, reducing the cell's ability to autophagically clear intracellular bacteria and regulate Paneth-cell and inflammatory responses in the gut. The risk (G) allele is one of the most replicated non-HLA loci for Crohn's disease, raising risk by roughly 1.3-fold per copy, and is included in inflammatory bowel disease risk assessment alongside NOD2 and IL23R variants.
Traits rs2241880 reads
Gene
Reference databases
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