载脂蛋白 E 基因型在认知障碍患者阿尔茨海默病诊断中的作用。
APOE genotype in the diagnosis of Alzheimer's disease in patients with cognitive impairment.
机构信息
Department of Neuroscience, Medical University of South Carolina, Charleston, SC 29403, USA.
出版信息
Am J Alzheimers Dis Other Demen. 2012 Aug;27(5):315-20. doi: 10.1177/1533317512452037.
Abstract
BACKGROUND
Although an association between the apolipoprotein E (APOE) ε4 allele and increased risk of Alzheimer's disease (AD) is established, the utility of APOE genotyping in the clinical diagnosis of AD is still under investigation.
METHODS
Medical records of 89 patients with cognitive impairment and APOE genotype data underwent a retrospective review.
RESULTS
Comparison of age, age at onset, education, Mini-Mental State Examination, months of follow-up, and family history of dementia did not reveal statistical difference among the patients with different APOE genotypes. The APOE ε4 carriers had a higher percentage of AD diagnoses after a median 16 months follow-up than non-APOE ε4 carriers. The APOE ε4 designation had a high sensitivity and high positive predictive value for the diagnosis of AD but a low negative predictive value and specificity.
CONCLUSIONS
The APOE genotyping may be helpful in diagnosing AD especially in patients presenting with atypical features or early age of onset of dementia.
摘要
背景
尽管载脂蛋白 E（APOE）ε4 等位基因与阿尔茨海默病（AD）风险增加之间存在关联，但 APOE 基因分型在 AD 的临床诊断中的应用仍在研究中。
方法
对 89 例认知障碍患者的病历和 APOE 基因型数据进行回顾性分析。
结果
不同 APOE 基因型患者的年龄、发病年龄、教育程度、简易精神状态检查、随访月数和痴呆家族史比较无统计学差异。中位随访 16 个月后，APOE ε4 携带者的 AD 诊断率高于非 APOE ε4 携带者。APOE ε4 基因型对 AD 的诊断具有较高的灵敏度和阳性预测值，但阴性预测值和特异性较低。
结论
APOE 基因分型可能有助于 AD 的诊断，特别是在表现不典型或痴呆发病年龄较早的患者中。
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本文引用的文献
1
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease.阿尔茨海默病所致痴呆的诊断：美国国家老龄化研究所-阿尔茨海默病协会工作组关于阿尔茨海默病诊断指南的建议。
Alzheimers Dement. 2011 May;7(3):263-9. doi: 10.1016/j.jalz.2011.03.005. Epub 2011 Apr 21.
2
Apolipoprotein E in Alzheimer's disease and other neurological disorders.载脂蛋白 E 在阿尔茨海默病和其他神经紊乱中的作用。
Lancet Neurol. 2011 Mar;10(3):241-52. doi: 10.1016/S1474-4422(10)70325-2.
3
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Neuroimage. 2011 Apr 1;55(3):909-19. doi: 10.1016/j.neuroimage.2010.12.081. Epub 2011 Jan 9.
4
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5
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6
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8
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10
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