Association of SORL1 gene variants with Alzheimer's disease

Heike Kölsch, Frank Jessen, Jens Wiltfang, Piotr Lewczuk, Martin Dichgans, Stefan J. Teipel, Johannes Kornhuber, Lutz Frölich, Isabella Heuser, Oliver Peters, Birgitt Wiese, Hanna Kaduszkiewicz, Hendrik van den Bussche, Michael Hüll, Alexander Kurz, Eckhart Rüther, Fritz A. Henn, Wolfgang Maier

Research output: Contribution to journalArticlepeer-review

49 Scopus citations


SORL1 gene variants were described as risk factor of Alzheimer's disease (AD) additionally SORL1 gene variants were associated with altered Aβ42 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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalBrain Research
StatePublished - 6 Apr 2009
Externally publishedYes


  • Age at onset
  • Alzheimer dementia
  • Association
  • SORL1


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