de.mpg.escidoc.pubman.appbase.FacesBean
Deutsch
 
Hilfe Wegweiser Impressum Kontakt Einloggen
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT

Freigegeben

Zeitschriftenartikel

Genetic variants in PSEN2 and correlation to CSF beta-amyloid42 levels in AD

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50098

Bertram,  L.
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

Externe Ressourcen
Es sind keine Externen Ressourcen verfügbar
Volltexte (frei zugänglich)

Lebedeva.pdf
(Verlagsversion), 2MB

Ergänzendes Material (frei zugänglich)
Es sind keine frei zugänglichen Ergänzenden Materialien verfügbar
Zitation

Lebedeva, E., Stingl, J. C., Thal, D. R., Ghebremedhin, E., Strauss, J., Ozer, E., et al. (2012). Genetic variants in PSEN2 and correlation to CSF beta-amyloid42 levels in AD. Neurobiology of Aging, 33(1), 201.e9-201.e18. doi:Artn 201.E9Doi 10.1016/J.Neurobiolaging.2010.07.017.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-000E-F05E-C
Zusammenfassung
Beta-amyloid 42 (A beta 42) concentrations in cerebrospinal fluid (CSF) are significantly decreased in Alzheimer's disease (AD). The aim of this study was to correlate genetic variability in presenilin 2 (PSEN2) in relation to A beta 42 concentrations and to confirm association of apolipoprotein E (APOE) alleles E4/E4 genotype with lower CSF A beta 42. Haplotype analysis of PSEN2 and APOE genotyping were performed in 175 Alzheimer's disease patients, as defined by clinical diagnosis and A beta 42 levels. One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms (SNPs). We found an association between haplotype 2 and higher CSF A beta 42 concentrations (p = 0.021) and lower A beta 42 concentrations in haplotype 5 carriers (p < 0.001). APOE E4/E4 carriers had lower A beta 42 levels (p = 0.009). Additive regression analysis showed an association of A beta 42 level with APOE genotype (p = 0.024), haplotype 4 (p = 0.064), and haplotype 5 (p = 0.04), whereas gender, age at onset and Mini Mental State Examination (MMSE) remained insignificant. Using CSF A beta 42 as a biomarker we replicated genetic influences in APOE and observed a significant influence of a new haplotype in PSEN2. A better understanding of genetic influences on biomarkers like CSF A beta 42 might help to stratify patients and develop specific treatment strategies. (C) 2012 Elsevier Inc. All rights reserved.