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载脂蛋白 E 基因型是否会影响 ALS 的临床表型?

Does apolipoprotein E genotype modify the clinical expression of ALS?

机构信息

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

Eur J Neurol. 2011 Apr;18(4):618-24. doi: 10.1111/j.1468-1331.2010.03225.x. Epub 2010 Sep 28.

DOI:10.1111/j.1468-1331.2010.03225.x
PMID:20880000
Abstract

BACKGROUND

The presence of the apolipoprotein E (ApoE) 4 genotype is associated with an earlier age of onset for Alzheimer's disease (AD) and several other neurodegenerative disorders. The objective of this study was to investigate the effect of ApoE genotypes on the clinical course of amyotrophic lateral sclerosis (ALS).

METHODS

Eight hundred and fifty-two consecutive patients with sporadic ALS evaluated at a tertiary care center were investigated for the effect of ApoE genotype on age of onset, rate of motor disease progression, cognitive functioning, and survival in ALS.

RESULTS

The frequencies of individual ApoE genotypes did not differ between patients with ALS and ALS-free Caucasian populations. Patients with different ApoE genotypes did not differ in the age of onset for ALS (years) (ApoE2 = 57.8 ± 13.7, ApoE3 = 57.3 ± 13.7, ApoE4 = 57.7 ± 13.2; P = 0.97), the rate of disease progression (Appel ALS score/month) (ApoE2 = 2.91 ± 2.66, ApoE3 = 2.67 ± 2.66, ApoE4 = 2.61 ± 2.47; P = 0.89), cognitive status (% cognitively impaired) (ApoE2 = 31.7, ApoE3 = 26.8, ApoE4 = 34.3, P = 0.28), or survival in years (ApoE2 = 3.79 ± 3.70, ApoE3 = 3.17 ± 2.27, ApoE4 = 3.05 ± 1.75; P = 0.85).

CONCLUSIONS

Our results suggest that ApoE genotype does not modify clinical course of sporadic ALS, in stark contrast to the influence of ApoE genotype on the disease course of AD and other neurodegenerative disorders.

摘要

背景

载脂蛋白 E(ApoE)4 基因型的存在与阿尔茨海默病(AD)和其他几种神经退行性疾病的发病年龄较早有关。本研究的目的是研究 ApoE 基因型对肌萎缩侧索硬化症(ALS)临床病程的影响。

方法

在一家三级护理中心评估的 852 例连续散发性 ALS 患者,研究了 ApoE 基因型对发病年龄、运动疾病进展速度、认知功能和 ALS 患者生存的影响。

结果

ALS 患者和无 ALS 的白种人群之间,个体 ApoE 基因型的频率没有差异。不同 ApoE 基因型的 ALS 患者在发病年龄(岁)(ApoE2=57.8±13.7,ApoE3=57.3±13.7,ApoE4=57.7±13.2;P=0.97)、疾病进展速度(Appel ALS 评分/月)(ApoE2=2.91±2.66,ApoE3=2.67±2.66,ApoE4=2.61±2.47;P=0.89)、认知状态(%认知障碍)(ApoE2=31.7,ApoE3=26.8,ApoE4=34.3,P=0.28)或生存年限(年)(ApoE2=3.79±3.70,ApoE3=3.17±2.27,ApoE4=3.05±1.75;P=0.85)方面均无差异。

结论

我们的结果表明,ApoE 基因型并未改变散发性 ALS 的临床病程,与 ApoE 基因型对 AD 和其他神经退行性疾病病程的影响形成鲜明对比。

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