阿尔茨海默病KIBRA基因多态性及其相关影像遗传学研究

摘要

Genetic factor plays an important role in Alzheimer’s disease (AD). Recent studies demonstrated that the single nucleotide polymorphism in the kidney and brain (KIBRA) expressed protein gene linked to increased AD risk. The KIBRA gene, which related to late AD, has highly expressed in hippocampus in AD. However, functional MRI findings on the KIBRA genetic polymorphisms were inconsistent. The mechanisms of KIBRA gene polymorphism in AD were still unclear. The explore of KIBRA gene on AD brain functions together with the behavioral performance will fundamentally be the groundwork for early diagnostic of AD, and would provide important clues for early diagnosis and intervention for AD.%遗传因素在阿尔茨海默病（AD）发生中具有重要作用。近年来的研究显示，肾脑表达蛋白（KIBRA）基因多态性能够增加AD风险，在AD的重要脑区（如海马）出现高表达，与晚发型AD有显著相关性。形态学MRI研究显示KIBRA 基因多态性与海马关系密切，但该基因多态性的多种功能成像研究存在不一致性，其神经机制尚不明确。应用影像遗传学方法，探索KIBRA基因多态性对AD大脑功能及对行为的潜在作用将有助于了解遗传风险因素对AD的影响，为早期诊断AD提供依据，进而对疾病早期有效干预以及相关药物的研发提供重要线索。