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

Neurosci Lett. 2008 Jul 25;440(1):68-71. doi: 10.1016/j.neulet.2008.05.049. Epub 2008 May 18.


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 Abeta42 and Abeta40 in 153 AD patients recruited from a multicenter study of the German Competence Net Dementias. Only one SORL1 SNP was associated with altered Abeta42 levels in the single marker analysis (SNP21: p=0.011), the other SNPs did not show an association with Abeta42 or Abeta40 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 Abeta42 CSF levels in AD patients (p=0.003). Abeta40 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 Abeta42. Thus our data suggest that SORL1 gene variants might influence AD pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / cerebrospinal fluid*
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / cerebrospinal fluid*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • LDL-Receptor Related Proteins / genetics*
  • Male
  • Membrane Transport Proteins / genetics*
  • Peptide Fragments / cerebrospinal fluid*
  • Polymorphism, Single Nucleotide / genetics*


  • Amyloid beta-Peptides
  • LDL-Receptor Related Proteins
  • Membrane Transport Proteins
  • Peptide Fragments
  • SORL1 protein, human
  • amyloid beta-protein (1-40)
  • amyloid beta-protein (1-42)