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

Document Type

Journal Article


Faculty of Computing, Health and Science


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




This article was originally published as: 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. Original article available here


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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