association of g/c (rs638405) polymorphism in β-secretase gene with alzheimer’s disease

Background: 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. methods: 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. results: 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). conclusion: 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.