Neuropsychology Department, SARAH Network of Rehabilitation Hospitals, SMHS Quadra 501 CJ. A Trreo, Brasilia DF, Brazil.
Dev Med Child Neurol. 2010 Jul;52(7):666-71. doi: 10.1111/j.1469-8749.2009.03465.x. Epub 2009 Nov 30.
Apolipoprotein E (APOE, protein; [ApoE, gene]) is a lipid transport protein abundantly present in brain cells. We investigated whether the APOE genotype is associated with cerebral palsy (CP) and whether patients with CP with comorbid conditions and more severe neurological deficits are likely to have a particular genotype.
In a cross-sectional study, 243 individuals with spastic CP (135 males, 108 females; mean age at data collection 11 year ([SD 6y 7mo], 34% with hemiplegia, 37% with diplegia, 29% with triplegia/tetraplegia; 44% with mild motor involvement), 31% with moderate motor involvement, 25% with severe motor involvement, were compared with healthy individuals matched by age, race, and sex to analyse the association between APOE genotype and the incidence of CP. Associations between the APOE genotype and the incidence of comorbidities and neurological deficits were studied in the group with CP.
The APOE epsilon2epsilon3 genotype was significantly more prevalent in the group with CP (11%) than the comparison group (5%) (odds ratio [OR] 2.8; 95% confidence interval [CI] 1.01-7.66). The presence of the epsilon2 allele raised the probability of having CP (OR 3.2; 95% CI 1.27-8.27). The presence of ApoE epsilon4 was not significantly different among groups. No relation was found between APOE genotype and severity of neurological deficit or distribution of motor involvement. Four patients with CP presented the epsilon4epsilon4 genotype, and all exhibited epilepsy and microcephaly. Eleven of 12 individuals with CP and macrocephaly carried the epsilon3epsilon3 genotype.
A higher prevalence of the APOE epsilon2 genotype was found among those with CP. The association of microcephaly and epilepsy with the epsilon4epsilon4 genotype and the association of macrocephaly with epsilon3 demand further investigation.
载脂蛋白 E（APOE，蛋白；[APOE，基因]）是一种在脑细胞中大量存在的脂质转运蛋白。我们研究了 APOE 基因型是否与脑瘫（CP）有关，以及是否合并疾病和更严重神经功能缺损的 CP 患者更有可能具有特定的基因型。
在一项横断面研究中，我们比较了 243 名痉挛型 CP 患者（男 135 例，女 108 例；数据采集时的平均年龄为 11 岁[标准差 6 岁 7 个月]，34%为偏瘫，37%为双瘫，29%为四肢瘫/截瘫；44%为轻度运动障碍）、31%为中度运动障碍、25%为重度运动障碍，与年龄、种族和性别相匹配的健康个体进行比较，以分析 APOE 基因型与 CP 发生率之间的关系。在 CP 组中研究了 APOE 基因型与合并症和神经功能缺损发生率之间的关系。
CP 组 APOE epsilon2epsilon3 基因型（11%）明显高于对照组（5%）（比值比[OR]2.8；95%置信区间[CI]1.01-7.66）。携带 epsilon2 等位基因会增加患 CP 的概率（OR3.2；95%CI1.27-8.27）。各组之间 ApoE epsilon4 的存在无显著差异。APOE 基因型与神经功能缺损严重程度或运动障碍分布之间无相关性。4 名 CP 患者表现出 epsilon4epsilon4 基因型，均伴有癫痫和小头畸形。12 名 CP 合并巨脑畸形患者中有 11 名携带 epsilon3epsilon3 基因型。
CP 患者中 APOE epsilon2 基因型的患病率较高。CP 患者中 microcephaly 和 epilepsy 与 epsilon4epsilon4 基因型相关，macrocephaly 与 epsilon3 相关，需要进一步研究。
