TY - JOUR
T1 - SORL1 variants across Alzheimer's disease European American cohorts
AU - Fernández, Maria Victoria
AU - Black, Kathleen
AU - Carrell, David
AU - Saef, Ben
AU - Budde, John
AU - Deming, Yuetiva
AU - Howells, Bill
AU - Del-Aguila, Jorge L.
AU - Ma, Shengmei
AU - Bi, Catherine
AU - Norton, Joanne
AU - Chasse, Rachel
AU - Morris, John
AU - Goate, Alison
AU - Cruchaga, Carlos
N1 - Funding Information:
We thank contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible. This work was supported by grants from the National Institutes of Health (R01-AG044546, P01-AG003991, and R01-AG035083), and the Alzheimer Association (NIRG-11-200110, BAND-14-338165 and BFG-15- 362540). This research was conducted while CC was a recipient of a New Investigator Award in Alzheimer's disease from the American Federation for Aging Research. CC is a recipient of a BrightFocus Foundation Alzheimer's Disease Research Grant (A2013359S). The recruitment and clinical characterization of research participants at Washington University were supported by NIH P50 AG05681, P01 AG03991, and P01 AG026276. Samples from the National Cell Repository for Alzheimer's Disease (NCRAD), which receives government support under a cooperative agreement grant (U24 AG21886) awarded by the National Institute on Aging (NIA), were used in this study. NIALOAD samples were collected under a cooperative agreement grant (U24 AG026395) awarded by the National Institute on Aging.
Publisher Copyright:
© 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84988661488&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2016.122
DO - 10.1038/ejhg.2016.122
M3 - Article
C2 - 27650968
AN - SCOPUS:84988661488
SN - 1018-4813
VL - 24
SP - 1828
EP - 1830
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 12
ER -