Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population.

ABSTRACT: BackgroundLittle is known about the rare missense variants (RMVs) of APOE in East Asians, including the Japanese, and their association with Alzheimer's disease (AD) and lipid metabolism.ObjectiveTo identify APOE RMVs in the Japanese population and investigate their association with AD and lipid metabolism, including low-density lipoprotein cholesterol levels.MethodsAPOE RMVs were explored in the Niigata (NIG; 2589 subjects) and Tohoku (ToMMo; 3307 subjects) cohorts. A case-control study included 6261 AD cases and 16,331 controls, all of whom were aged 65 or older. Sanger sequencing, whole-exome sequencing, or a combination of both was performed on the NIG subjects. We used the genotype data from the ToMMo cohort. APOE RMV frequencies in the Japanese population

SUBMITTER: Miyashita A 

PROVIDER: S-EPMC12254517 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature