Genetic variants in PSEN2 and correlation to CSF beta-amyloid42 levels in AD.
作者： Elena Lebedeva , Julia C. Stingl , Dietmar R. Thal , Estifanos Ghebremedhin , Joachim Strauss
DOI: 10.1016/J.NEUROBIOLAGING.2010.07.017
关键词:
摘要: Beta-amyloid 42 (Aβ42) concentrations in cerebrospinal fluid (CSF) are significantly decreased Alzheimer's disease (AD). The aim of this study was to correlate genetic variability presenilin 2 (PSEN2) relation Aβ42 and confirm association apolipoprotein E (APOE) alleles E4/E4 genotype with lower CSF Aβ42. Haplotype analysis PSEN2 APOE genotyping were performed 175 patients, as defined by clinical diagnosis levels. One distinct haploblock detected the frequent haplotypes analyzed using 4 tagging single nucleotide polymorphisms (SNPs). We found an between haplotype higher (p = 0.021) 5 carriers < 0.001). had levels 0.009). Additive regression showed level 0.024), 0.064), 0.04), whereas gender, age at onset Mini Mental State Examination (MMSE) remained insignificant. Using a biomarker we replicated influences observed significant influence new PSEN2. A better understanding on biomarkers like might help stratify patients develop specific treatment strategies.
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