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Influence of SORL1 gene variants: association with CSF amyloid-β products in probable Alzheimer's disease

Item Type:Article
Title:Influence of SORL1 gene variants: association with CSF amyloid-β products in probable Alzheimer's disease
Creators Name:Koelsch, H. and Jessen, F. and Wiltfang, J. and Lewczuk, P. and Dichgans, M. and Kornhuber, J. and Froelich, L. and Heuser, I. and Peters, O. and Schulz, J.B. and Schwab, S.G. and Maier, W.
Abstract:SORL1 gene variants were described as risk factors of Alzheimer's disease (AD). We investigated the association of four SORL1 variants with CSF levels of A{beta}42 and A{beta}40 in 153 AD patients recruited from a multicenter study of the German Competence Net Dementias. Only one SORL1 SNP was associated with altered A{beta}42 levels in the single marker analysis (SNP21: p=0.011), the other SNPs did not show an association with A{beta}42 or A{beta}40 CSF levels. Haplotype analysis identified a three marker SORL1 haplotype consisting of SNP19 T-allele, SNP21 G-allele and SNP23 A-allele (T/G/A) which was associated with reduced A{beta}42 CSF levels in AD patients (p=0.003). A{beta}40 levels were also lower in carriers of this haplotype; however, this did not reach statistical significance (p=0.15). We found a SORL1 haplotype which was associated with CSF levels of amyloid-{beta} cleavage products, measured as altered levels of A{beta}42. Thus our data suggest that SORL1 gene variants might influence AD pathology.
Keywords:Alzheimer Dementia, SORL1, Association, Amyloid-{beta}, CSF
Source:Neuroscience Letters
ISSN:0304-3940
Publisher:Elsevier (The Netherlands)
Volume:440
Number:1
Page Range:68-71
Date:25 July 2008
Official Publication:https://doi.org/10.1016/j.neulet.2008.05.049
PubMed:View item in PubMed

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