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

H. Kolsch; F. Jessen; J. Wiltfang; P. Lewczuk; M. Dichgans; J. Kornhuber; L. Frolich; I. Heuser; O. Peters; J.B. Schulz; Sibylle Schwab; Wolfgang Maier

doi:10.1016/j.neulet.2008.05.049

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

H. Kolsch, F. Jessen, J. Wiltfang, P. Lewczuk, M. Dichgans, J. Kornhuber, L. Frolich, I. Heuser, O. Peters, J.B. Schulz, Sibylle Schwab, Wolfgang Maier

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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) orA 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-P cleavage products, measured as altered levels of A beta(42). Thus our data suggest that: SORL1 gene variants might influence AD pathology. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

Original language	English
Pages (from-to)	68-71
Journal	Neuroscience Letters
Volume	444
DOIs	https://doi.org/10.1016/j.neulet.2008.05.049
Publication status	Published - 2008

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@article{c34a0f30fc7246aa90bc6ebe035b2d54,

title = "Influence of SORL1 gene variants: Association with CSF amyloid-β products in probable Alzheimer's disease",

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) orA 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-P cleavage products, measured as altered levels of A beta(42). Thus our data suggest that: SORL1 gene variants might influence AD pathology. (C) 2008 Elsevier Ireland Ltd. All rights reserved.",

author = "H. Kolsch and F. Jessen and J. Wiltfang and P. Lewczuk and M. Dichgans and J. Kornhuber and L. Frolich and I. Heuser and O. Peters and J.B. Schulz and Sibylle Schwab and Wolfgang Maier",

year = "2008",

doi = "10.1016/j.neulet.2008.05.049",

language = "English",

volume = "444",

pages = "68--71",

journal = "Neuroscience Letter",

issn = "0304-3940",

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T1 - Influence of SORL1 gene variants: Association with CSF amyloid-β products in probable Alzheimer's disease

AU - Kolsch, H.

AU - Jessen, F.

AU - Wiltfang, J.

AU - Lewczuk, P.

AU - Dichgans, M.

AU - Kornhuber, J.

AU - Frolich, L.

AU - Heuser, I.

AU - Peters, O.

AU - Schulz, J.B.

AU - Schwab, Sibylle

AU - Maier, Wolfgang

PY - 2008

Y1 - 2008

N2 - 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) orA 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-P cleavage products, measured as altered levels of A beta(42). Thus our data suggest that: SORL1 gene variants might influence AD pathology. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

AB - 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) orA 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-P cleavage products, measured as altered levels of A beta(42). Thus our data suggest that: SORL1 gene variants might influence AD pathology. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

U2 - 10.1016/j.neulet.2008.05.049

DO - 10.1016/j.neulet.2008.05.049

M3 - Article

VL - 444

SP - 68

EP - 71

JO - Neuroscience Letter

JF - Neuroscience Letter

SN - 0304-3940

ER -

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

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