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载脂蛋白 E 多态性与脑瘫严重程度的关系:挪威 255 例儿童的横断面研究。

Apolipoprotein E polymorphisms and severity of cerebral palsy: a cross-sectional study in 255 children in Norway.

机构信息

Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

出版信息

Dev Med Child Neurol. 2013 Apr;55(4):372-7. doi: 10.1111/dmcn.12086. Epub 2013 Feb 5.

Abstract

AIM

The aim of this study was to examine whether the presence of the apolipoprotein E (ApoE) allele APOEε4 is associated with less severe manifestations of cerebral palsy (CP), consistent with the suggested beneficial effect of this allele on neurodevelopment in children.

METHOD

ApoE genotyping was performed on buccal epithelial cells from 255 children (141 males 114 females; mean age 12y, SD 2y 3mo, range 9-17y) recorded in the Cerebral Palsy Register of Norway. The main outcome measure of CP severity was the Gross Motor Function Classification System (GMFCS). Secondary outcome measures were fine motor function, epilepsy, and the need for gastrostomy tube feeding (GTF).

RESULTS

There was no association between the APOEε4 genotype and GMFCS levels (odds ratio [OR] 1.15; 95% confidence interval [CI] 0.66-1.99). However, the APOEε4 genotype was more often present among children with epilepsy (OR 2.2; 95% CI 1.1-4.2) and/or receiving GTF (OR 2.7; 95% CI 1.1-6.6). Among children with unilateral CP, the presence of APOEε4 was associated with more severe fine motor impairment (OR 2.6; 95% CI 1.3-6.9).

INTERPRETATION

Our main hypothesis that APOEε4 would have a protective effect on neurodevelopment was not supported. Instead, subgroup analyses suggested an adverse effect of the APOEε4 genotype on the developing brain after injury.

摘要

目的

本研究旨在探讨载脂蛋白 E(ApoE)等位基因 APOEε4 的存在是否与脑瘫(CP)的症状较轻有关,这与该等位基因对儿童神经发育的有益作用相一致。

方法

对挪威脑瘫登记处记录的 255 名儿童(141 名男性,114 名女性;平均年龄 12 岁,标准差 2 岁 3 个月,范围 9-17 岁)的颊上皮细胞进行 ApoE 基因分型。CP 严重程度的主要结局测量指标是粗大运动功能分类系统(GMFCS)。次要结局测量指标是精细运动功能、癫痫和胃造口管喂养(GTF)的需要。

结果

APOEε4 基因型与 GMFCS 水平之间没有关联(比值比 [OR] 1.15;95%置信区间 [CI] 0.66-1.99)。然而,APOEε4 基因型在患有癫痫(OR 2.2;95% CI 1.1-4.2)和/或接受 GTF(OR 2.7;95% CI 1.1-6.6)的儿童中更为常见。在单侧 CP 儿童中,APOEε4 的存在与更严重的精细运动障碍有关(OR 2.6;95% CI 1.3-6.9)。

结论

我们的主要假设是 APOEε4 对神经发育有保护作用,但这一假设并未得到支持。相反,亚组分析表明,APOEε4 基因型对损伤后发育中的大脑有不良影响。

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