The Relationship Between Bridging Integrator ۱ Gene Polymorphism and Susceptibility to Alzheimer’s Disease

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 BIN۱ gene’s single-nucleotide polymorphisms (SNP) rs۷۴۴۳۷۳ and Late-Onset Alzheimer’s Disease (LOAD) in an Iranian population in Guilan Province. Materials & Methods: In this case-control study, ۱۱۰ patients with LOAD and ۱۱۰ unrelated healthy controls were recruited. Polymerase chain reaction-restriction length polymorphism (PCRRFLP) was performed for genotyping the BIN۱ gene’s SNP rs۷۴۴۳۷۳. 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 ۷۰.۹% (n=۱۵۹) and ۵۸.۶% (n=۱۲۹), respectively (P=۰.۰۰۷). The frequency of allele C in the LOAD group (۴۱.۴%) (n=۹۱) was significantly higher than that of the control group (۲۹.۱%) (n=۶۴) (P=۰.۰۰۷). BIN’s homozygous genotype (CC) frequency was significantly higher in the LOAD group than in the control group (P=۰.۰۴۳). Conclusion: The rs۷۴۴۳۷۳ SNP of the BIN۱ gene is significantly associated with the risk of developing AD in the studied population.

Keywords:

Alzheimer’s disease , Polymorphism , Single-nucleotide polymorphism , BIN۱ protein , Human