Association of SORL1 gene variants with Alzheimer's disease

Kolsch, H., Jessen, F., Wiltfang, J., Lewczuk, P., Dichgans, M., Teipel, S. J., Kornhuber, J., Frolich, L., Heuser, I., Peters, O., Wiese, B., Kaduszkiewicz, H., van den Bussche, H., Hull, M., Kurz, A., Ruther, E., Henn, F. A., Maier, W. (April 2009) Association of SORL1 gene variants with Alzheimer's disease. Brain Research, 1264. pp. 1-6. ISSN 0006-8993 (Print)0006-8993 (Linking)

URL: http://www.ncbi.nlm.nih.gov/pubmed/19368828
DOI: 10.1016/j.brainres.2009.01.044

Abstract

SORL1 gene variants were described as risk factor of Alzheimer's disease (AD) additionally SORL1 gene variants were associated with altered Abeta(42) CSF levels in AD patients. In the present study we investigated the association of SORL1 gene variants (rs2070045 (SNP19), SORL1-18ex26 (SNP21), rs3824968 (SNP23), rs1010159 (SNP25)) with AD risk by using Cox proportional hazard model and Kaplan-Meier survival analysis in 349 AD patients and 483 controls, recruited from a multicenter study of the German Competence Network Dementias. The SNP21G-allele and a SORL1 haplotype consisting of the SNP19 T-allele, SNP21 G-allele and SNP23 A-allele (T/G/A) were associated with increased hazard ratios and an earlier age at onset of AD (SNP21: p=0.002; T/G/A haplotype: p=0.007). This effect was most pronounced in carriers of an additional APOE4 allele (SNP21: p=0.003; T/G/A haplotype: p=0.005). In conclusion, we found SORL1 gene variants located in the 3' region of the gene to be associated with increased AD risk and an earlier age at onset of AD in our Central-European population. Thus, our data support a role of SORL1 polymorphisms in AD.

Item Type: Paper
Uncontrolled Keywords: Age of Onset Aged Alleles Alzheimer Disease/*genetics Female Gene Frequency Genetic Predisposition to Disease/*genetics Genetic Variation Haplotypes Humans Kaplan-Meier Estimate LDL-Receptor Related Proteins/*genetics Male Membrane Transport Proteins/*genetics Polymorphism, Genetic/*genetics Regression Analysis
Subjects: diseases & disorders > mental disorders > delirium dementia cognitive disorders > Alzheimer's disease
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function
CSHL Authors:
Communities: CSHL labs > Henn lab
Depositing User: Matt Covey
Date: 6 April 2009
Date Deposited: 06 Jun 2014 18:31
Last Modified: 06 Jun 2014 18:31
Related URLs:
URI: http://repository.cshl.edu/id/eprint/30262

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving