Premium
P4‐318: Degeneration of cholingeric afferent in a transgenic mouse model of Alzheimer's disease: Lack of correlation with proximity to amyloid plaques
Author(s) -
Chen Gang,
Xu Yan,
Lee Michael
Publication year - 2012
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2013.08.099
Subject(s) - neurodegeneration , monoaminergic , neuroscience , genetically modified mouse , basal forebrain , hippocampal formation , hippocampus , amyloid precursor protein , cholinergic , presenilin , senile plaques , amyloid (mycology) , alzheimer's disease , biology , dentate gyrus , cholinergic neuron , pathology , transgene , medicine , disease , serotonin , receptor , biochemistry , gene
of the Clusterin (CLU) and the Complement Receptor 1 (CR1) genes and AD in Brazilian elderly. It was a cross-section case-control study, with 319 individuals over 65 years, divided in two groups: 211 late-onset Alzheimer’s disease (LOAD) patients (women 135; mean age 80 years) and 108 control subjects (women 75; mean age 78 years). The mean score at MMSE test was 13 points (Alzheimer’s disease) and 26 points (Control). All analyzed polymorphisms satisfied the Hardy-Weinberg equilibrium (HWE). Two common genetic variants (rs 2279590 and rs9331888) in the CLU gene and one (rs 6656401) in CR1 gene were genotyped using TaqMan technology. Results: The ancestral allele (C) and the genotype (C/C) of the rs2279590 polymorphism within CLU were significantly associated with an increased risk of LOAD (OR 1⁄4 1,52; p 1⁄4 0.01 and OR 1⁄4 2; p 1⁄4 0.02, respectively). Haplotype analysis for CLU SNPs identified a risk haplotype (C/C) (OR 1⁄4 1.23, p 1⁄4 0.02) and a protective haplotype (C-T) (OR 0.77, p 1⁄4 0.03). However, after adjustment, such associations were not maintained, possibly, due to the sample size or ethnic difference, as no other similar study in Brazilian population was published until now. No association was found for the SNP in CR1 between LOAD and controls. Conclusions: These findings suggest CLU as a susceptibility gene for LOAD in a sample of Brazilian population. Larger genetic studies would be needed in the future, to further investigate those genes function and to clarify their functional roles in Alzheimer’s disease.