Balancing immunity: disease risk mutation can be beneficial. Xi Lin

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Trends Immunol. 2025 Aug 13:S1471-4906(25)00174-7. doi: 10.1016/j.it.2025.07.007. Online ahead of print.

ABSTRACT

An allelic variant of the autophagy gene ATG16L1 (T300A) is a genetic risk factor for Crohn’s disease. However, over 50% of the global population carries at least one copy. Yao et al. have demonstrated a heterozygote advantage, where the pathogen-protective effect of one allele may outweigh the disease risk in homozygotes.

PMID:40813227 | DOI:10.1016/j.it.2025.07.007

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