Correlation of R219K polymorphism of ABCA1 gene and the risk of Alzheimer's disease in the southwest of Iran

Introduction

Alzheimer's disease (AD), as a neurodegenerative disease, is the most common reason for dementia in the elderly. ATP- binding cassette transporter 1 (ABCA1) is a cell membrane transporter protein which is involved in cholesterol efflux. The aim of this study is to evaluate the correlation between polymorphisms of G/A (rs2230806) in ABCA1 gene with sporadic Alzheimer's disease in the southwest of Iran.

Methods

This case-control study was conducted in 180 subjects, including 100 sporadic AD patients and 80 healthy subjects. Genotypes of all samples were determined using the PCR–restriction fragment length polymorphism (PCR–RFLP) technique.

Results

The analysis of the R219K Polymorphism of ABCA1 gene indicated that there was no significant distinction between AD patients and controls. In this study when groups were stratified by age and sex, results showed that in the control group with less than 75 years, the risk of developing AD was significantly lower than subjects who were older than 75 years (P = 0.019, OR = 0.46, 95% CI = 0.24–0.88). A significant difference was detected in the risk of AD between patient and control in females older than 75 years (P = 0.028).

Conclusion

The results of this study confirm that aging is an important risk factor for AD. Also, it has been found that AD is more prevalent in women compared to men. However, our results do not support the hypothesis that R219K polymorphism in the rs2230806 region of the ABCA1 as a genetic risk factor for developing AD in our study population.