Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.

ABSTRACT:

Introduction

Recent data suggest that distinct prion-like amyloid beta and tau strains are associated with rapidly progressive Alzheimer's disease (rpAD). The role of genetic factors in rpAD is largely unknown.

Methods

Previously known AD risk loci were examined in rpAD cases. Genome-wide association studies (GWAS) were performed to identify variants that influence rpAD.

Results

We identified 115 pathology-confirmed rpAD cases and 193 clinical rpAD cases, 80% and 69% were of non-Hispanic European ancestry. Compared to the clinical cohort, pathology-confirmed rpAD had higher frequencies of apolipoprotein E (APOE) ε4 and rare missense variants in AD risk genes. A novel genome-wide significant locus (P < 5×10^-8 ) was observed for clinical rpAD on chromosome 21

SUBMITTER: Wang P 

PROVIDER: S-EPMC10984493 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature