Ma Fang-Chen, Zong Yu, Wang Hui-Fu, Li Jie-Qiong, Cao Xi-Peng, Tan Lan
Department of Neurology, Weifang Medical University, Weifang 261042, China.
Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao 266071, China.
Ann Transl Med. 2018 Nov;6(22):437. doi: 10.21037/atm.2018.07.04.
ATP-binding cassette transporter A7 (ABCA7) rs3764650 has been identified to be a susceptibility locus for Alzheimer's disease (AD), but its role in cerebrospinal fluid (CSF) proteins was still unclear.
The associations of rs3764650 with CSF Aβ, t-tau and p-tau were analyzed in non-dementia AD, including preclinical and prodromal AD from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.
Finally, GG + GT genotypes significantly decreased CSF Aβ level, but did not alter CSF t-tau and p-tau levels in non-dementia AD at baseline, which was further confirmed in longitudinal studies.
Our findings supported that ABCA7 modified AD risk by altering Aβ deposition rather than tau pathology.
ATP结合盒转运蛋白A7（ABCA7）基因rs3764650已被确定为阿尔茨海默病（AD）的一个易感位点，但其在脑脊液（CSF）蛋白质中的作用仍不清楚。
在非痴呆型AD中，包括来自阿尔茨海默病神经影像倡议（ADNI）队列的临床前期和前驱期AD，分析rs3764650与脑脊液Aβ、总tau蛋白（t-tau）和磷酸化tau蛋白（p-tau）的相关性。
最终，GG + GT基因型在基线时显著降低了非痴呆型AD患者脑脊液Aβ水平，但未改变脑脊液t-tau和p-tau水平，这在纵向研究中得到了进一步证实。
我们的研究结果支持ABCA7通过改变Aβ沉积而非tau病理来改变AD风险。
