Association of G/C (rs638405) Polymorphism in β-secretase Gene with Alzheimer’s Disease

Alzheimer's Disease (AD) is a neurodegenerative disorder, which is the most common cause of dementia in the elderly. Accumulation of β-amyloid plaques outside neurons is the most important pathological hallmark of AD, which is produced by cleavage of amyloid precursor protein by the Alzheimer's β-secretase (BACE1). Since BACE1 is a key enzyme in the formation of β-amyloid peptides, the purpose of this study was to assess the association between polymorphisms of G/C (rs638405) BACE1 gene with sporadic AD in Khuzestan, Isfahan and Fars provinces in Iran. Genotypes were determined by the PCR–Restriction Fragment Length Polymorphism (PCR–RFLP) technique in two groups including 89 sporadic AD patients and 73 healthy subjects. The findings of the BACE1 G/C (rs638405) polymorphism revealed that there was no significant difference between AD patients and controls in men group; however, there was a weak difference in the frequency of CC genotype between patients and controls in women group (χ2=3.333, df=1, p=0.068). The results of this study suggest that the G/C (rs638405) polymorphism of BACE1 gene might not be related with sporadic AD in Khuzestan, Isfahan and Fars provinces in Iran. However, our results do not support a genetic risk factor of this polymorphism for developing AD in male group of this study.