Potential genetic biomarkers in the early diagnosis of Alzheimer disease: APOE and BIN1.

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.

• Authors: Gülhan Kaya, Esra Gündüz, Muradiye Acar, Ömer Faruk Hatipoğlu, Burcu Acar, Atilla Ilhan, Mehmet Gündüz
• Journal: Turkish journal of medical sciences (Turk J Med Sci) Vol. 45 Issue 5 Pg. 1058-72 ( 2015) ISSN: 1300-0144 [Print] Turkey
• PMID: 26738348 (Publication Type: Clinical Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Adaptor Proteins, Signal Transducing
• Apolipoproteins E
• BIN1 protein, human
• Genetic Markers
• Nuclear Proteins
• Tumor Suppressor Proteins

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Aged
• Aged, 80 and over
• Alzheimer Disease (diagnosis, genetics)
• Apolipoproteins E (genetics)
• Case-Control Studies
• Early Diagnosis
• Female
• Gene Frequency
• Genetic Markers
• Genotype
• Humans
• Male
• Nuclear Proteins (genetics)
• Polymorphism, Genetic (genetics)
• Tumor Suppressor Proteins (genetics)
• Turkey