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Alzheimer's Disease Sequencing Project

PI
Mayeux, Richard
DAR ID
10029
Initial Approval Date
November 16, 2018
Current DAR Status
Expired
PI Institution
Columbia University
PI Institution Country
United States
PI Institution Type
Non-Profit

Requested Datasets (1)

NG00067Alzheimer's Disease Sequencing Project Umbrella Study

Research Use Statement
For this study, we will analyze data from whole genome sequencing (WGS) of from the Alzheimer's Disease Sequencing Project (ADSP) discovery-replication phase families and independent case control data from ADSP extension study. We will also analyze WGS and whole exome sequencing (WES) data from the Alzheimer's Disease Neuroimaging (ADNI) study and the ADSP follow-up study (ADSP-FUS) as they become available. The overall goal of this project is to identify and annotate causal variants related to LOAD using sequencing data generated from families multiply affected by the disease and validate the results in independent case-control datasets. Using families as discovery and unrelated individuals as replication and having the ability to genotype additional family members can provide direct evidence of causality by establishing which variants co-segregate in families and are associated in the general population with disease.

Non-Technical Summary
Analyses of whole genome, whole exome and targeted resequencing will continue to provide important new information regarding potential risk conferring genes, biochemical pathways involved in Alzheimer's disease and targets that may be suitable for pharmacological manipulation. While whole exome and targeted sequencing are powerful technologies, analysis of whole genomes will provide more information and allow discovery of rare, high risk variants.

Reported Publications (5)

Publications shown are those reported by investigators through NIAGADS DAR reporting and renewal processes and may not represent a complete list of publications associated with the project.

  1. Admixture Mapping of Alzheimer's disease in Caribbean Hispanics identifies a new locus on 22q13.1. Kizil C, et al. Molecular psychiatry. 2022. PMID: 35365809
  2. FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease. Lee AJ, et al. Acta neuropathologica. 2022. PMID: 35608697
  3. Progranulin mutations in clinical and neuropathological Alzheimer's disease. Vardarajan BN, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2022. PMID: 35258170
  4. Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. Tosto G, et al. JAMA neurology. 2019. PMID: 31058951
  5. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Raghavan NS, et al. Annals of clinical and translational neurology. 2018. PMID: 30009200