From the Departments of Neurology (D.D.C., E.R., L.M.D.), Epidemiology and Biostatistics (J.S., R.E.B., K.C., I.O.), and Radiology (S.K., J.L.), Memorial Sloan-Kettering Cancer Center, New York; and Department of Neurology (D.D.C., M.L., L.M.D.), Weill Cornell Medical College, New York, NY.
Neurology. 2014 Jul 22;83(4):320-7. doi: 10.1212/WNL.0000000000000617. Epub 2014 Jun 18.
The goal of this study was to assess whether the APOE ε4 allele and other APOE single nucleotide polymorphisms (SNPs) influence neuropsychological and neuroimaging outcomes in patients with brain tumors.
Two hundred eleven patients with brain tumors participated in the study. All patients completed standardized neuropsychological tests and provided a blood sample for APOE genotyping. Ratings of white matter abnormalities were performed on MRI scans. Patients were classified into 2 groups based on the presence (n = 50) or absence (n = 161) of at least one APOE ε4 allele. Additional APOE SNPs were genotyped in a subset of 150 patients.
Patients with at least one APOE ε4 allele had significantly lower scores in verbal learning and delayed recall, and marginally significant lower scores in executive function, in comparison to noncarriers of an ε4 allele. Patients with at least one ε4 allele and history of cigarette smoking had significantly higher scores in working memory and verbal learning than ε4 carriers who never smoked. Nine additional APOE SNPs were significantly associated with attention and executive and memory abilities. There were no significant differences between ε4 carriers and noncarriers on the extent of white matter abnormalities on MRI.
The findings suggest that patients with brain tumors who are carriers of the APOE ε4 allele may have increased vulnerability to developing memory and executive dysfunction, and that additional SNPs in the APOE gene may be associated with cognitive outcome.
本研究旨在评估 APOE ε4 等位基因和其他 APOE 单核苷酸多态性(SNPs)是否影响脑瘤患者的神经心理学和神经影像学结果。
211 名脑瘤患者参与了这项研究。所有患者均完成了标准化神经心理学测试,并提供了血液样本进行 APOE 基因分型。对 MRI 扫描进行了白质异常评分。根据是否存在(n=50)或不存在(n=161)至少一个 APOE ε4 等位基因,将患者分为两组。在 150 名患者的亚组中对其他 APOE SNPs 进行了基因分型。
与不携带 ε4 等位基因的患者相比,至少携带一个 APOE ε4 等位基因的患者在言语学习和延迟回忆方面的得分明显较低,在执行功能方面的得分略低。与从未吸烟的 ε4 携带者相比,至少携带一个 ε4 等位基因且有吸烟史的患者在工作记忆和言语学习方面的得分明显较高。另外 9 个 APOE SNPs 与注意力、执行和记忆能力显著相关。在 MRI 上的白质异常程度方面,ε4 携带者和非携带者之间没有显著差异。
研究结果表明,携带 APOE ε4 等位基因的脑瘤患者可能更容易出现记忆和执行功能障碍,APOE 基因中的其他 SNPs 可能与认知结果相关。