Association of SORL1 gene variants with Alzheimer's disease.
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Association of SORL1 gene variants with Alzheimer's disease. / Kölsch, Heike; Jessen, Frank; Wiltfang, Jens; Lewczuk, Piotr; Dichgans, Martin; Teipel, Stefan J; Kornhuber, Johannes; Frölich, Lutz; Heuser, Isabella; Peters, Oliver; Wiese, Birgitt; Kaduszkiewicz, Hanna; Bussche van den, Hendrik; Hüll, Michael; Kurz, Alexander; Rüther, Eckhart; Henn, Fritz A; Maier, Wolfgang.
in: BRAIN RES, Jahrgang 1264, 2009, S. 1-6.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Association of SORL1 gene variants with Alzheimer's disease.
AU - Kölsch, Heike
AU - Jessen, Frank
AU - Wiltfang, Jens
AU - Lewczuk, Piotr
AU - Dichgans, Martin
AU - Teipel, Stefan J
AU - Kornhuber, Johannes
AU - Frölich, Lutz
AU - Heuser, Isabella
AU - Peters, Oliver
AU - Wiese, Birgitt
AU - Kaduszkiewicz, Hanna
AU - Bussche van den, Hendrik
AU - Hüll, Michael
AU - Kurz, Alexander
AU - Rüther, Eckhart
AU - Henn, Fritz A
AU - Maier, Wolfgang
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 1264
SP - 1
EP - 6
JO - BRAIN RES
JF - BRAIN RES
SN - 0006-8993
ER -