The Relationship Between Bridging Integrator 1 Gene Polymorphism and Susceptibility to Alzheimer’s Disease

Abstract

Background: Alzheimer’s Disease (AD) is the most common type of dementia. The role of genetic factors in AD development remains non-demonstrated. Objectives: In this study, we aimed to investigate the association between one of the BIN1 gene’s single-nucleotide polymorphisms (SNP) rs744373 and Late-Onset Alzheimer’s Disease (LOAD) in an Iranian population in Guilan Province. Materials & Methods: In this case-control study, 110 patients with LOAD and 110 unrelated healthy controls were recruited. Polymerase chain reaction-restriction length polymorphism (PCRRFLP) was performed for genotyping the BIN1 gene’s SNP rs744373. Electrophoresis was thereafter conducted using agarose gel and DNA-safe stain, and the gels were visualized under an Ultraviolet (UV) trans-illuminator. The allelic and genotypic frequencies were determined. Results: The frequency of allele T (Wild-type allele) in the control and the LOAD groups was 70.9% (n=159) and 58.6% (n=129), respectively (P=0.007). The frequency of allele C in the LOAD group (41.4%) (n=91) was significantly higher than that of the control group (29.1%) (n=64) (P=0.007). BIN’s homozygous genotype (CC) frequency was significantly higher in the LOAD group than in the control group (P=0.043). Conclusion: The rs744373 SNP of the BIN1 gene is significantly associated with the risk of developing AD in the studied population.

Keywords

• alzheimer’s disease
• polymorphism
• single-nucleotide polymorphism
• bin1 protein
• human