Jiang Teng, Yu Jin-Tai, Tan Meng-Shan, Wang Hui-Fu, Wang Ying-Li, Zhu Xi-Chen, Zhang Wei, Tan Lan
Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, China.
Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, China; Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, China; Department of Neurology, Qingdao Municipal Hospital, College of Medicine and Pharmaceutics, Ocean University of China, China.
Neurobiol Aging. 2014 Apr;35(4):934.e1-3. doi: 10.1016/j.neurobiolaging.2013.09.014. Epub 2013 Oct 3.
The current study was conducted to investigate the association of phosphatidylinositol-binding clathrin assembly protein gene (PICALM) with late-onset Alzheimer's disease (LOAD) risk in Han Chinese. We first sequenced PICALM for variants in a small sample (n = 100), and the selected variants were then genotyped in a larger cohort (n = 2292). Sequencing analysis identified 16 variants within PICALM including 5 new variants with extreme low frequency in the northern Han Chinese population. However, in the subsequent genotyping, none showed a significant association with LOAD risk after Bonferroni correction. These findings implicate that PICALM might not play a major role in the genetic predisposition to LOAD in Han Chinese.
本研究旨在探讨磷脂酰肌醇结合网格蛋白组装蛋白基因（PICALM）与汉族人群晚发性阿尔茨海默病（LOAD）风险的关联。我们首先在一个小样本（n = 100）中对PICALM进行测序以寻找变异，然后在一个更大的队列（n = 2292）中对所选变异进行基因分型。测序分析在PICALM中鉴定出16个变异，其中包括5个在北方汉族人群中频率极低的新变异。然而，在随后的基因分型中，经Bonferroni校正后，没有一个变异与LOAD风险显示出显著关联。这些发现表明，PICALM可能在汉族人群LOAD的遗传易感性中不发挥主要作用。
