The genetic component is of a great value in late-onset Alzheimer's disease (AD). The sortilin-related receptor 1 (SORL1) gene is the genetic risk factor associated with AD and closely correlated with cognitive impairment, such as memory, executive, verbal and abstract reasoning functions. SORL1 risk gene carriers exhibit abnormal changes in gray matter volume, white matter integrity, and functional connectivity. Understanding neural mechanism of SORL1 risk variant leading to cognitive impairment, and establishing gene-image-behavior pathway will provide valuable clues for early diag-nosis and treatment for AD. Genetic, image and behavioral research status of SORL1 gene were reviewed in this article.%遗传因素在迟发型阿尔茨海默病(AD)发生中具有重要作用.分拣蛋白相关受体1基因(SORL1)是AD的遗传风险基因,且与记忆、执行、语言和抽象推理等认知功能损害关系密切.SORL1风险基因携带者存在脑灰质体积萎缩、白质纤维完整性破坏及静息态功能连接异常.阐明SORL1风险基因引起认知功能损害的神经机制,并构建该风险基因的遗传-影像-行为学通路,必将为AD的早期诊断和治疗提供重要线索.就SORL1基因多态性的遗传、影像、行为学研究现状予以综述.
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