The genetic landscape of early-onset Alzheimer's disease in China.

ABSTRACT:

Introduction

Research on somatic and germline mutations in Chinese individuals with early-onset Alzheimer's disease (EOAD) has been limited.

Methods

We conducted whole-genome sequencing of blood DNA from 108 patients with EOAD and 116 controls. The analysis included somatic and germline mutations across coding and non-coding regions, mutational signature determination, pathway enrichment identification, and predictive model.

Results

The mutational burden was significantly higher in the EOAD group compared to the control group. The prevalence of single-base substitution signature 5, which is strongly associated with aging, was much higher in patients with EOAD than in controls. EOAD-specific somatic mutations were identified in genes such as MIR31HG, TUBB4B, and APP. G

SUBMITTER: Qin W 

PROVIDER: S-EPMC11851144 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature