The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.

ABSTRACT:

Introduction

The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study (NIA-LOAD FBS) was established to study the genetic etiology of Alzheimer's disease (AD).

Methods

Recruitment focused on families with two living affected siblings and a third first-degree relative similar in age with or without dementia. Uniform assessments were completed, DNA was obtained, as was neuropathology, when possible. Apolipoprotein E (APOE) genotypes, genome-wide single nucleotide polymorphism (SNP) arrays, and sequencing was completed in most families.

Results

APOE genotype modified the age-at-onset in many large families. Novel variants and known variants associated with early- and late-onset AD and frontotemporal dementia were identified supporting an internat

SUBMITTER: Reyes-Dumeyer D 

PROVIDER: S-EPMC9250549 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature