GRN 变异 rs5848 降低阿尔茨海默病患者的血浆和大脑中的颗粒蛋白水平。
GRN variant rs5848 reduces plasma and brain levels of granulin in Alzheimer's disease patients.
机构信息
Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.
出版信息
J Alzheimers Dis. 2013;33(1):23-7. doi: 10.3233/JAD-2012-120946.
Genetic variants in the granulin (GRN) gene have been shown to increase the risk of Alzheimer's disease (AD). Here, we report that the A allele of rs5848 in GRN reduces plasma granulin levels in a dose-dependent manner in a clinically-defined AD sample cohort. Similarly, the mRNA levels of granulin were decreased with respect to A allele of rs5848 in the inferior temporal cortex of neuropathologically confirmed AD patients. Our findings suggest that the A allele of rs5848 is functionally relevant by reducing the expression of granulin.
GRN 基因中的遗传变异已被证明会增加阿尔茨海默病（AD）的风险。在这里，我们报告 GRN 基因中的 rs5848 的 A 等位基因以剂量依赖的方式降低了临床定义的 AD 样本队列中的血浆颗粒蛋白水平。同样，在神经病理学确诊的 AD 患者的下颞叶皮层中，rs5848 的 A 等位基因的颗粒蛋白 mRNA 水平降低。我们的研究结果表明，rs5848 的 A 等位基因通过降低颗粒蛋白的表达而具有功能相关性。
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