Association among ABCA7 Gene Polymorphism, rs3764650 and Alzheimer%26apos;s Disease in the Turkish Population

作者：Oznur Murat; Hatipoglu Omer F; Ayturk Zubeyde; Dede Serap; Akbas Kubra; Aydin Duygu; Urhan Ayse; Artut Elif; Karaaslan Afranur

来源：Clinical and Investigative Medicine, 2015, 38(4): E187-E192.

Purpose: Alzheimer's disease (AD), the most common form of dementia, is an irreversible and progressive neurodegenerative disease that is characterized by the progressive loss of cognitive functions, behavioral and psychological disorders and a decrease in daily routine activities. Among people aged 65 years and over, AD is steadily increasing. Genome-wide association studies have shown that various gene polymorphisms are highly associated with the pathogenesis of AD. Among them, ABCA7 gene polymorphism has been identified as one of the genetic risks. The purpose of this study was to investigate the relationship among ABCA7 gene polymorphism, rs3764650 and AD, and to determine if it could be use as a biomarker for AD susceptibility in the Turkish population.
Methods: Peripheral blood samples of 54 Alzheimer's patients and 57 control subjects were collected. Genomic DNA was isolated by SDS/proteinase K treatment followed by phenolchloroform extraction and ethanol precipitation. The presence of the ABCA7 gene rs3764650 polymorphism was investigated by PCR-RFLP and selected samples were confirmed by DNA sequencing.
Results: In the Turkish population, the ABCA7 gene rs3764650 polymorphism did not show a significant association with AD when compared with the control group (p>0.05). APOE-epsilon 3 allele frequencies were higher in both AD patients and control subjects (76.85% and 84.21%, respectively).
Conclusion: Both previously published studies and our current study did not cover the complete genetic variation in the gene. To detect variants that are disease-related, studies with larger sample sizes are needed.

• 出版日期2015