| Background: Alzheimer's disease (AD) is the most common cause of dementia among the elderly over the age of 65. AD is a neurodegenerative disorder characterized by intracellular neurofibrillary tangles (NFT) and extracellular senile plaques, which consists of amyloid P-peptide (Aβ). The etiology of AD is complex and several possible genes may be involved during the process. Mutations in the amyloid precursor protein (APP), presenilin-1 (PS1) and presenilin-2 (PS2) genes have been identified as major genes involved in autosomal dominant familial AD, however, autosomal dominant familial AD is only responsible for less than 1% of all AD cases. For the more common sporadic AD, the ε4 allele of apolipoprotein E (ApoE) gene has been recognized as the only confirmed genetic risk factor for sporadic AD. However, the possession of this allele is neither necessary nor sufficient for the disease. So, it is supposed that other genetic factors must play a role in the pathogenesis of sporadic AD.Objective: To identify the genotypes and allele frequencies of susceptible genes in the Chinese Han population (molecular epidemiology), verify and explore epidemiological and genetic pattern of AD in the Chinese elderly and to develop approaches for early diagnosis, further understanding pathogenic mechanism of AD.Methods: Case-control study, and allele-specific PCR (AS PCR) method were used to detect the polymorphisms of CYP46 rs754203, PON1 rs662, BDNF rs6265, Fas rs1800682.Results:1. The association study between CYP46 rs754203 polymorphism and AD: (1) The distribution of CYP46 rs754203 genotypes followed Hardy-Weinberg equilibrium among AD patients and control subjects (P > 0.28 for each comparison). Our data showed that the distribution of CYP46 rs754203 genotypes was significantly different in patients with AD as compared with controls (x~2 = 6.59, P = 0.037). The presence of at least one of CYP46 rs754203 T allele (C/T or T/T) was higher in AD patients...
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