This repository is under review for potential modification in compliance with Administration directives.

← Back to Approved DARs

Searching for Alzheimer-related genetic variants and genes

PI
Nicolas, Gael
DAR ID
10132
Initial Approval Date
November 21, 2019
Current DAR Status
Active
PI Institution
UNIVERSITE DE ROUEN NORMANDIE
PI Institution Country
France
PI Institution Type
Non-Profit

Requested Datasets (1)

NG00067Alzheimer's Disease Sequencing Project Umbrella Study

Research Use Statement
The purpose of this study is to find new Alzheimer related variants and genes, by combining exome and genome data from healthy controls and Alzheimer patients from different studies. Data will be analyzed using association, burden and variant component statistics.

Non-Technical Summary
Some individuals develop dementia, while others do not. A large part is likely determined by gene, Alzheimer’s disease has a heritability of up to 80%. What are the key genetic factors that determine if one will get Alzheimer disease? In this study, we will thoroughly explore genomic data of a large group of healthy persons and dementia patients to answer this question.

Reported Publications (3)

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. Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk. Quenez O, et al. American journal of human genetics. 2026. PMID: 42648288
  2. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Holstege H, et al. Nature genetics. 2022. PMID: 36411364
  3. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes. Schramm C, et al. Genome medicine. 2022. PMID: 35761418