TY - JOUR
T1 - The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study
T2 - A resource for genetic discovery
AU - Reyes-Dumeyer, Dolly
AU - Faber, Kelley
AU - Vardarajan, Badri
AU - Goate, Alison
AU - Renton, Alan
AU - Chao, Michael
AU - Boeve, Brad
AU - Cruchaga, Carlos
AU - Pericak-Vance, Margaret
AU - Haines, Jonathan L.
AU - Rosenberg, Roger
AU - Tsuang, Debby
AU - Sweet, Robert A.
AU - Bennett, David A.
AU - Wilson, Robert S.
AU - Foroud, Tatiana
AU - Mayeux, Richard
N1 - Publisher Copyright:
© 2021 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.
PY - 2022/10
Y1 - 2022/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85122147315&partnerID=8YFLogxK
U2 - 10.1002/alz.12514
DO - 10.1002/alz.12514
M3 - Article
AN - SCOPUS:85122147315
SN - 1552-5260
VL - 18
SP - 1889
EP - 1897
JO - Alzheimer's and Dementia
JF - Alzheimer's and Dementia
IS - 10
ER -