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.
Alzheimer disease, APOE, BIN1, polymorphism, biomarker, RFLP
KAYA, GÜLHAN; GÜNDÜZ, ESRA; ACAR, MURADİYE; HATİPOĞLU, ÖMER FARUK; ACAR, BURCU; İLHAN, ATİLLA; and GÜNDÜZ, MEHMET
"Potential genetic biomarkers in the early diagnosisof Alzheimer disease: APOE and BIN1,"
Turkish Journal of Medical Sciences: Vol. 45:
5, Article 12.
Available at: https://journals.tubitak.gov.tr/medical/vol45/iss5/12