The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.

ABSTRACT:

Introduction

Sequencing efforts to identify genetic variants and pathways underlying Alzheimer's disease (AD) have largely focused on late-onset AD although early-onset AD (EOAD), accounting for ∼10% of cases, is largely unexplained by known mutations, resulting in a lack of understanding of its molecular etiology.

Methods

Whole-genome sequencing and harmonization of clinical, neuropathological, and biomarker data of over 5000 EOAD cases of diverse ancestries.

Results

A publicly available genomics resource for EOAD with extensive harmonized phenotypes. Primary analysis will (1) identify novel EOAD risk loci and druggable targets; (2) assess local-ancestry effects; (3) create EOAD prediction models; and (4) assess genetic overlap with cardiovascular and other traits.

SUBMITTER: Ray NR 

PROVIDER: S-EPMC10527497 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature