| Title: |
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred |
| Authors: |
Cochran, Jesse Nicholas; Acosta‐Uribe, Juliana; Esposito, Bianca T; Madrigal, Lucia; Aguillón, David; Giraldo, Margarita M; Taylor, Jared W; Bradley, Joseph; Fulton‐Howard, Brian; Andrews, Shea J; Acosta‐Baena, Natalia; Alzate, Diana; Garcia, Gloria P; Piedrahita, Francisco; Lopez, Hugo E; Anderson, Ashlyn G; Rodriguez‐Nunez, Ivan; Roberts, Kevin; Network, Dominantly Inherited Alzheimer; Absher, Devin; Myers, Richard M; Beecham, Gary W; Reitz, Christiane; Rizzardi, Lindsay F; Fernandez, Maria Victoria; Goate, Alison M; Cruchaga, Carlos; Renton, Alan E; Lopera, Francisco; Kosik, Kenneth S |
| Source: |
Alzheimer's & Dementia, vol 19, iss 9 |
| Publisher Information: |
eScholarship, University of California |
| Publication Year: |
2023 |
| Collection: |
University of California: eScholarship |
| Subject Terms: |
32 Biomedical and Clinical Sciences (for-2020); 5202 Biological Psychology (for-2020); 3202 Clinical Sciences (for-2020); 3209 Neurosciences (for-2020); 52 Psychology (for-2020); Alzheimer's Disease (rcdc); Acquired Cognitive Impairment (rcdc); Brain Disorders (rcdc); Human Genome (rcdc); Genetics (rcdc); Neurosciences (rcdc); Aging (rcdc); Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) (rcdc); Clinical Research (rcdc); Dementia (rcdc); Neurodegenerative (rcdc); 2.1 Biological and endogenous factors (hrcs-rac); Neurological (hrcs-hc); 3 Good Health and Well Being (sdg); Humans (mesh); Clusterin (mesh); Colombia (mesh); Alzheimer Disease (mesh); Mutation (mesh); Amyloid (mesh); Presenilin-1 (mesh); Age of Onset (mesh); AAO; ACE; age of onset |
| Time: |
3835 - 3847 |
| Description: |
INTRODUCTION: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations. METHODS: A genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array imputation. Replication was assessed in two ADAD cohorts, one sporadic early-onset AD study and four late-onset AD studies. RESULTS: 13 variants had p |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
qt14r2m6ff; https://escholarship.org/uc/item/14r2m6ff; https://escholarship.org/content/qt14r2m6ff/qt14r2m6ff.pdf |
| DOI: |
10.1002/alz.13021 |
| Availability: |
https://escholarship.org/uc/item/14r2m6ff; https://escholarship.org/content/qt14r2m6ff/qt14r2m6ff.pdf; https://doi.org/10.1002/alz.13021 |
| Rights: |
public |
| Accession Number: |
edsbas.D46A4DDD |
| Database: |
BASE |