Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Dec;24(12):1828-1830.
doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21.

SORL1 variants across Alzheimer's disease European American cohorts

Maria Victoria Fernández  1   2 , Kathleen Black  1   2 , David Carrell  1 , Ben Saef  1   2 , John Budde  1   2 , Yuetiva Deming  1   2 , Bill Howells  1   2 , Jorge L Del-Aguila  1   2 , Shengmei Ma  1   2 , Catherine Bi  1   2 , Joanne Norton  1   2 , Rachel Chasse  1   2 , John Morris  2   3   4 , Alison Goate  5 , Carlos Cruchaga  1   2 ; NIA-LOAD family study group, NCRAD
Affiliations

SORL1 variants across Alzheimer's disease European American cohorts

Maria Victoria Fernández et al. Eur J Hum Genet. 2016 Dec.

Abstract

The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset, late-onset AD (LOAD) and familial LOAD.

PubMed Disclaimer

References

    1. Mattson MP: Pathways towards and away from Alzheimer's disease. Nature 2004; 430: 631–639. - PMC - PubMed
    1. Rogaeva E, Meng Y, Lee JH et al: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39: 168–177. - PMC - PubMed
    1. Webster JA, Myers A, Pearson JV et al: SORL1 as an Alzheimer's disease predisposition gene? Neurodegener Dis 2008; 5: 60–64. - PubMed
    1. Li H, Wetten S, Li L et al: Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol 2009; 65: 45–53. - PubMed
    1. Seshadri S, DeStefano A, Au R et al: Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Gene 2007; 8 (Suppl 1): S15. - PMC - PubMed

Substances