Balancing immunity: disease risk mutation can be beneficial.

Xi Lin; Richard S Blumberg

doi:10.1016/j.it.2025.07.007

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Balancing immunity: disease risk mutation can be beneficial.

Xi Lin·Richard S Blumberg

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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.

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Humans Genetic Predisposition to Disease Autophagy-Related Proteins Mutation Crohn Disease Autophagy Animals Alleles Risk Factors Immunity ATG16L1 Crohn’s disease (CD)Salmonella infection autophagy inflammasome Journal Article Research Support, N.I.H., Extramural

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Xi Lin, Richard S Blumberg. 2025-08-13. Balancing immunity: disease risk mutation can be beneficial.. https://doi.org/10.1016/j.it.2025.07.007

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