Revisiting APOE: Insights from rare variants and the expanding landscape of Alzheimer's disease genetics.

Abstract excerpt

The apolipoprotein E (APOE) gene is the most robust genetic risk factor for Alzheimer's disease (AD), with the ε4 allele conferring elevated risk and ε2 providing protection. While research has largely focused on common variants, recent findings by Miyashita et al. highlight the role of rare missense variants (RMVs) such as APOE ε7, composed of p.E262 K and p.E263 K within the C-terminal lipid-binding domain....

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