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

Dolly Reyes-Dumeyer, Kelley Faber, Badri Vardarajan, Alison Goate, Alan Renton, Michael Chao, Brad Boeve, Carlos Cruchaga, Margaret Pericak-Vance, Jonathan L. Haines, Roger Rosenberg, Debby Tsuang, Robert A. Sweet, David A. Bennett, Robert S. Wilson, Tatiana Foroud, Richard Mayeux

Research output: Contribution to journalArticlepeer-review

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 international effort to solve AD genetics. Discussion: The NIA-LOAD FBS is the largest collection of familial AD worldwide, and data or samples have been included in 123 publications addressing the genetic etiology of AD. Genetic heterogeneity and variability in the age-at-onset provides opportunities to investigate the complexity of familial AD.

Original languageEnglish (US)
JournalAlzheimer's and Dementia
DOIs
StateAccepted/In press - 2022

ASJC Scopus subject areas

  • Epidemiology
  • Health Policy
  • Developmental Neuroscience
  • Clinical Neurology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Fingerprint

Dive into the research topics of 'The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery'. Together they form a unique fingerprint.

Cite this