Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.

ABSTRACT:

Importance

The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE ε2 and APOE ε4 could provide critical new insights, but given the low frequency of additional missense variants, AD genetic cohorts have previously been too small to interrogate this question robustly.

Objective

To determine whether rare missense variants on APOE are associated with AD risk.

Design, setting, and participants

Association with case-control status was tested in a sequenced discover

SUBMITTER: Le Guen Y 

PROVIDER: S-EPMC9157381 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature