Genome-wide analysis of common structural variants in Alzheimer’s disease identifies a risk-associated regulatory CCG repeat in FAM193B

Nature Neuroscience, Published online: 12 October 2026; doi:10.1038/s41593-026-02481-z

This study identifies common structural variants contributing to Alzheimer’s disease heritability. An expanded promoter CCG repeat increases FAM193B expression and disease risk, linking its expression to DNA damage and cell death pathways in neurons.