- Turkish Journal of Medical Sciences
- Vol: 45 Issue: 5
- Potential genetic biomarkers in the early diagnosisof Alzheimer disease: APOE and BIN1
Potential genetic biomarkers in the early diagnosisof Alzheimer disease: APOE and BIN1
Authors : Gülhan Kaya, Esra Gündüz, Muradiye Acar, Ömer Faruk Hatipoğlu, Burcu Acar, Atilla Ilhan, Mehmet Gündüz
Pages : 1058-1072
View : 17 | Download : 4
Publication Date : 9999-12-31
Article Type : Makaleler
Abstract :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. Materials and methods: 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. Results: 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. Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.Keywords : Alzheimer disease, APOE, BIN1, polymorphism, biomarker, RFLP