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A Genetic Variant of the Sortilin 1 Gene is Associated with Reduced Risk of Alzheimer's Disease

Journal article
Authors Carl-Henrik Andersson
Oskar Hansson
Lennart Minthon
Niels Andreasen
Kaj Blennow
Henrik Zetterberg
Ingmar Skoog
Anders Wallin
Staffan Nilsson
Petronella Kettunen
Published in Journal of Alzheimer's Disease
Volume 53
Issue 4
Pages 1353-1363
ISSN 1387-2877
Publication year 2016
Published at Department of Mathematical Sciences, Applied Mathematics and Statistics
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 1353-1363
Language en
Links dx.doi.org/10.3233/JAD-160319
Subject categories Neurochemistry

Abstract

Alzheimer's disease (AD) is a neurodegenerative disorder represented by the accumulation of intracellular tau protein and extracellular deposits of amyloid-β (Aβ) in the brain. The gene sortilin 1 (SORT1) has previously been associated with cardiovascular disease in gene association studies. It has also been proposed to be involved in AD pathogenesis through facilitating Aβ clearance by binding apoE/Aβ complexes prior to cellular uptake. However, the neuropathological role of SORT1 in AD is not fully understood. To evaluate the associations between gene variants of SORT1 and risk of AD, we performed genetic analyses in a Swedish case-control cohort. Ten single nucleotide polymorphisms (SNPs), covering the whole SORT1 gene, were selected and genotyped in 620 AD patients and 1107 controls. The SNP rs17646665, located in a non-coding region of the SORT1 gene, remained significantly associated with decreased risk of AD after multiple testing (pc = 0.0061). In addition, other SNPs were found to be nominally associated with risk of AD, as well as altered cognitive function and the CSF biomarker Aβ42, but these associations did not survive correction for multiple testing. The fact that SORT1 has been strongly associated with risk of cardiovascular disease is intriguing as cardiovascular disease is also regarded as a risk factor for AD. Finally, increased knowledge about SORT1 function has a potential to increase our understanding of APOE, the strongest risk factor for AD.

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