SORL1 variants across Alzheimer%26apos;s disease European American cohorts

作者：Fernandez Maria Victoria; Black Kathleen; Carrell David; Saef Ben; Budde John; Deming Yuetiva; Howells Bill; Del Aguila Jorge L; Ma Shengmei; Bi Catherine; Norton Joanne; Chasse Rachel; Morris John; Goate Alison; Cruchaga Carlos

来源：European Journal of Human Genetics, 2016, 24(12): 1828-1830.

DOI：10.1038/ejhg.2016.122

The accumulation of the toxic A beta 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.

• 出版日期2016-12