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Article

Balancing immunity: disease risk mutation can be beneficial.

Trends in immunology - 1 Oct 2025

Lin Xi, Blumberg Richard S

Abstract excerpt

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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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40813227
DOI: 10.1016/j.it.2025.07.007
PMCID: PMC12505537

Genes

ATG16L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Balancing immunity: disease risk mutation can be beneficial.PMID 40813227Read ↗

Heterozygosity for Crohn's disease risk allele of ATG16L1 promotes unique protein interactions and protects against bacterial infection.Semantic proximity Read ↗

Heterozygosity for Crohn’s Disease Risk Allele of <i>ATG16L1</i> Protects against Bacterial InfectionSemantic proximity Read ↗

An alteration in ATG16L1 stability in Crohn disease.Semantic proximity Read ↗

ATG16L1: A multifunctional susceptibility factor in Crohn disease.Semantic proximity Read ↗

Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.Semantic proximity Read ↗

ATG16L1 T300A polymorphism and Crohn's disease susceptibility: evidence from 13,022 cases and 17,532 controls.Semantic proximity Read ↗

Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant.Semantic proximity Read ↗

The Inflammatory Bowel Disease-Associated Autophagy Gene Atg16L1T300A Acts as a Dominant Negative Variant in Mice.Semantic proximity Read ↗

The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.Semantic proximity Read ↗

T300A genetic polymorphism: a susceptibility factor for Crohn's disease?Semantic proximity Read ↗

Unconventional autophagy mediated by the WD40 domain of ATG16L1 is derailed by the T300A Crohn disease risk polymorphism.Semantic proximity Read ↗

A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.Semantic proximity Read ↗

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