SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer's disease

Authors

L H Guo
C Westerteicher
Xin-Hui Wang
M Kratzer
A Tsolakidou
M Jiang
T Grimmer
Simon Laws, Edith Cowan UniversityFollow
P Alexopoulos
H Bujo
A Kurz
R Perneczky

Document Type

Journal Article

Keywords

Amyloid cascade, Biomarker, Dementia, Genetic risk, Mild cognitive impairmentamyloid beta protein[1-42], apolipoprotein E4, beta secretase 1, biological marker, protein, sortilin related receptor with A type repeat, tau protein, unclassified drug, allele, Alzheimer disease, article, cerebrospinal fluid, clinical article, gene frequency, genetic association, genetic variability, human, mild cognitive impairment, priority journal, single nucleotide polymorphism, Aged, Alzheimer Disease, Amyloid beta-Peptides, Biological Markers, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, LDL-Receptor Related Proteins, Male, Membrane Transport Proteins, Middle Aged, Mild Cognitive Impairment, Peptide Fragments, Polymorphism, Single Nucleotide, tau Proteins

Faculty

Faculty of Computing, Health and Science

School

School of Medical Sciences / Centre of Excellence for Alzheimer's Disease Research and Care

RAS ID

15205

Comments

Guo, L., Westerteicher, C., Wang, X., Kratzer, M., Tsolakidou, A., Jiang, M., Grimmer, T., Laws, S. , Alexopoulos, P., Bujo, H., Kurz, A., & Perneczky, R. (2012). SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer's disease. European Archives of Psychiatry and Clinical Neuroscience, 262(6), 529-534. Available here

Abstract

The neuronal sortilin-related receptor with A-type repeats (SORL1, also called LR11 or sorLA) is involved in amyloidogenesis, and the SORL1 gene is a major risk factor for Alzheimer's disease (AD). We investigated AD-related CSF biomarkers for associations with SORL1 genetic variants in 105 German patients with mild cognitive impairment (MCI) and AD. The homozygous CC-allele of single nucleotide polymorphism (SNP) 4 was associated with increased Tau concentrations in AD, and the minor alleles of SNP8, SNP9, and SNP10 and the haplotype CGT of these SNPs were associated with increased SORL1 concentrations in MCI. SNP22 and SNP23, and the haplotypes TCT of SNP19-21-23, and TTC of SNP22-23-24 were correlated with decreased Ab42 levels in AD. These results strengthen the functional role of SORL1 in AD.

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