Bibliographic Details
| Title: |
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. |
| Authors: |
Celeste Sassi, Perry G Ridge, Michael A Nalls, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, ARUK Consortium, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Jose Bras, Alison M Goate, Andrew B Singleton, Rita Guerreiro, John Hardy |
| Source: |
PLoS ONE, Vol 11, Iss 6, p e0150079 (2016) |
| Publisher Information: |
Public Library of Science (PLoS), 2016. |
| Publication Year: |
2016 |
| Collection: |
LCC:Medicine
LCC:Science |
| Subject Terms: |
Medicine, Science |
| More Details: |
The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP), is a central event in Alzheimer's disease (AD)(Amyloid hypothesis). Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 genes involved in APP processing, Aβ degradation and clearance. We then used exome and genome sequencing to investigate the single independent (single-variant association test) and cumulative (gene-based association test) effect of coding variants in these genes as potential susceptibility factors for AD, in a cohort composed of 332 sporadic and mainly late-onset AD cases and 676 elderly controls from North America and the UK. Our study shows that common coding variability in these genes does not play a major role for the disease development. In the single-variant association analysis, the main hits, none of which statistically significant after multiple testing correction (1.9e-4 |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1932-6203 |
| Relation: |
https://doaj.org/toc/1932-6203 |
| DOI: |
10.1371/journal.pone.0150079 |
| Access URL: |
https://doaj.org/article/ac919710348e4339ab197e881d48d2f5 |
| Accession Number: |
edsdoj.919710348e4339ab197e881d48d2f5 |
| Database: |
Directory of Open Access Journals |
