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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Alzheimer Disease / cerebrospinal fluid
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Alzheimer Disease / genetics*
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Amyloid beta-Peptides / cerebrospinal fluid
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Biomarkers / cerebrospinal fluid*
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Case-Control Studies
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Cognitive Dysfunction / cerebrospinal fluid
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Cognitive Dysfunction / genetics*
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Female
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Genetic Predisposition to Disease
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Humans
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LDL-Receptor Related Proteins / cerebrospinal fluid
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LDL-Receptor Related Proteins / genetics*
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Male
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Membrane Transport Proteins / cerebrospinal fluid
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Membrane Transport Proteins / genetics*
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Middle Aged
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Peptide Fragments / cerebrospinal fluid
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Polymorphism, Single Nucleotide
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tau Proteins / cerebrospinal fluid
Substances
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Amyloid beta-Peptides
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Biomarkers
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LDL-Receptor Related Proteins
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Membrane Transport Proteins
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Peptide Fragments
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SORL1 protein, human
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amyloid beta-protein (1-42)
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tau Proteins