RBFOX1 association with age at onset of Alzheimer's disease.

ABSTRACT:

Introduction

Genetic contributors to early onset Alzheimer's disease (AD) beyond APP and PSEN1/2 remain unknown. Identifying novel loci may reveal disease mechanisms and therapeutic targets. We investigated genetic variants influencing age at onset in early onset families from the Long-Life Family Study (LLFS).

Methods

Six families with at least two early onset cases (onset ≤ 65) were identified among 3476 LLFS participants. Genome-wide linkage analysis of age at onset was followed by single nucleotide polymorphism association. Validation analyses were performed in nine independent cohorts, alongside blood and brain transcriptomic analyses.

Results

Three significant linkage regions were identified, including RBFOX1 (logarithm of the odds = 4.41). RBFOX1 variants were

SUBMITTER: Xicota L 

PROVIDER: S-EPMC12928012 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature