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. 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
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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.

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