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

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Item Type:	Article
Title:	Influence of SORL1 gene variants: association with CSF amyloid-β products in probable Alzheimer's disease
Creators Name:	Koelsch, H., Jessen, F., Wiltfang, J., Lewczuk, P., Dichgans, M., Kornhuber, J., Froelich, L., Heuser, I., Peters, O., Schulz, J.B., 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
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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