Article
Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.
Journal of Alzheimer's disease : JAD - 1 Apr 2025
Wang Dongyu, Scalici Alexandra, Wang Yanbing, Lin Honghuang, Pitsillides Achilleas, Heard-Costa Nancy, Cruchaga Carlos, Ziegemeier Ellen, Bis Joshua C, Fornage Myriam, Boerwinkle Eric, De Jager Philip L, Wijsman Ellen, Dupuis Josée, Renton Alan E, Seshadri Sudha, Goate Alison M, DeStefano Anita L, Peloso Gina M
Abstract excerpt
BackgroundPrior studies examined variants within presenilin-2 (PSEN2), presenilin-1 (PSEN1), and amyloid precursor protein (APP) genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer's Disease Sequencing Project (ADSP).ObjectiveTo characterize previously-reported clinically-relevant...
Topics
- Humans
- Alzheimer Disease
- Presenilin-2
- Presenilin-1
- Amyloid beta-Protein Precursor
- Genetic Variation
- Male
- Exome Sequencing
- Female