SORL1 variants across Alzheimer's disease European American cohorts
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Updated: Mar 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Maria Victoria Fernández1,2, Kathleen Black1,2, David Carrell1
1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
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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