Deakin University, IMPACT - The Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Geelong, VIC, Australia.
Biostatistics Unit, Faculty of Health, Deakin University, Burwood, VIC, Australia.
Sci Rep. 2022 Oct 24;12(1):17802. doi: 10.1038/s41598-022-20587-9.
Although several genetic polymorphisms have been linked with the risk of Alzheimer's disease, less is known about their impact on cognitive performance among cognitively healthy individuals. Our aim was to investigate the association of the genetic variant, rs744373 in the bridging integrator 1 gene (BIN1), the strongest genetic risk factor for Alzheimer's disease after the APOE ε4 allele, with different cognitive domains among non-demented older men. Cognitive function was measured using the CogState Brief Battery, which assessed cognitive performance across four domains: psychomotor function, visual attention, recognition memory and working memory. Linear regression analysis revealed that individuals with the BIN1 risk allele performed poorly on the recognition memory task as compared to those without the risk allele. However, this was in contrast with the individuals who harboured the APOE ε4 risk allele as they displayed better performance on the recognition task in comparison to those without the ε4 risk allele. To the best of our knowledge, this is the first study that demonstrates genetic variation in BIN1 to be a better predictor of recognition memory than APOE, which remains the biggest genetic risk factor for Alzheimer's disease.
尽管已经发现几种基因多态性与阿尔茨海默病的风险相关，但对于它们在认知健康个体的认知表现中的影响知之甚少。我们的目的是研究与最强的阿尔茨海默病遗传风险因素 APOE ε4 等位基因之后的桥接整合因子 1 基因（BIN1）中的 rs744373 遗传变异与非痴呆老年男性不同认知领域之间的关联。认知功能使用 CogState 简明电池进行测量，该测试评估了四个领域的认知表现：精神运动功能、视觉注意力、识别记忆和工作记忆。线性回归分析表明，与没有风险等位基因的个体相比，携带 BIN1 风险等位基因的个体在识别记忆任务上的表现较差。然而，这与携带 APOE ε4 风险等位基因的个体形成对比，因为与没有 ε4 风险等位基因的个体相比，他们在识别任务上表现更好。据我们所知，这是第一项表明 BIN1 中的遗传变异比 APOE 更能预测识别记忆的研究，APOE 仍然是阿尔茨海默病最大的遗传风险因素。
