Turk J Med Sci. 2015;45(5):1058-72.
BACKGROUND/AIM: Alzheimer disease (AD) is triggered by interactions of multiple genetic and environmental factors. The APOE gene E4 allele is the best-known risk factor for AD, yet it represents a small ratio of genetic factors. According to genome-wide association studies, the BIN1 gene is the second important risk factor for AD, following the APOE gene. We aimed to identify a novel biomarker indicating susceptibility to AD by investigating APOE alleles and BIN1 gene polymorphisms in a Turkish population.
Fifty-three AD patients and 56 controls were included to examine polymorphism and allele frequency of the APOE and BIN1 genes. Genomic DNAs were isolated from whole blood by SDS/proteinase K treatment, phenol-chloroform extraction, and ethanol precipitation. RFLP was done for identification of polymorphisms in the APOE gene and allele-specific PCR was used for the BIN1 gene.
Frequency of the APOE E4 allele was higher in the AD patient group, while the frequency of the E2 allele was higher in controls. The E4/E4 genotype was detected in the AD patient group, while this genotype was not observed in the controls. The frequencies of BIN1 alleles were similar in both groups.
There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.
背景/目的：阿尔茨海默病（AD）是由多种遗传和环境因素相互作用引发的。APOE 基因 E4 等位基因是 AD 的最佳已知风险因素，但它只代表遗传因素的一小部分。根据全基因组关联研究，BIN1 基因是继 APOE 基因之后 AD 的第二个重要风险因素。我们旨在通过研究土耳其人群中的 APOE 基因多态性和 BIN1 基因多态性，寻找一个新的 AD 易感性生物标志物。
共纳入 53 例 AD 患者和 56 例对照，以检测 APOE 和 BIN1 基因的多态性和等位基因频率。采用 SDS/蛋白酶 K 处理、酚氯仿抽提和乙醇沉淀法从全血中提取基因组 DNA。通过 RFLP 鉴定 APOE 基因的多态性，采用等位基因特异性 PCR 检测 BIN1 基因。
AD 患者组 APOE E4 等位基因频率较高，而对照组 E2 等位基因频率较高。AD 患者组检测到 E4/E4 基因型，而对照组未观察到该基因型。两组 BIN1 等位基因频率相似。
APOE E4 等位基因与 AD 之间存在很强的关联，而 BIN1 基因多态性与 AD 之间无明显关联。
