<i>APOE3</i> Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.

ABSTRACT:

Background

Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the PSEN1 ^E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant (APOE3 ^Ch). Heterozygosity for the APOE3 ^Ch variant may influence the age at which the onset of cognitive impairment occurs. We assessed this hypothesis in a population in which the PSEN1 ^E280A variant is prevalent.

Methods

We analyzed data from 27 participants with one copy of the APOE3 ^Ch variant among 1077 carriers of the

SUBMITTER: Quiroz YT 

PROVIDER: S-EPMC12640232 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature