A polymorphism in the BIN1 gene influences its expression and is associated with the risk of Alzheimer's disease: An integrated analysis

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Background The correlation between rs7561528 and the risk of Alzheimer's disease (AD) has been reported with varying results, and the potential mechanism of rs7561528 in influencing AD risk remains unexplored. Objective This study aims to examine the impact of rs7561528 on AD risk and to investigate its potential mechanism. Methods This study initially synthesized previously published data to investigate the correlation between rs7561528 and AD risk. Subsequently, an expression quantitative trait loci analysis was conducted to determine whether rs7561528 modulates the expression of BIN1 in human brain tissue. Results Our findings revealed that the rs7561528A allele notably escalates the risk of AD in the Caucasian population (OR = 1.17, 95% CI = 1.07–1.28, I² = 33.5%). Similarly, the rs7561528AG genotype also significantly heightens the risk of AD in the same population (OR = 1.18, 95% CI = 1.05–1.31, I² = 21.7%). Further analysis demonstrated that the combined rs7561528AA + AG genotype substantially amplifies the risk of AD in the Caucasian population (OR = 1.21, 95% CI = 1.08–1.36, I² = 30.0%). Ultimately, we discovered that rs7561528 modulates the expression of BIN1 in human brain tissue. Conclusions rs7561528 could potentially affect the risk of AD by regulating the expression levels of BIN1 in human brain tissue. This discovery enhances our understanding of novel mechanisms through which rs7561528 may contribute to AD risk.