载脂蛋白E基因多态性与脑性瘫痪相关性的初步研究

Apolipoprotein E genotype polymorphism and cerebral palsy in children

目的 探讨中国汉族儿童脑性瘫痪与载脂蛋白E基因多态性的关系.方法 选取中国汉族儿童,其中120名为脑性瘫痪患儿,设为脑瘫组,120例为正常儿童,设为对照组.应用聚合酶链反应与限制性片断长度多态性分析方法测定脑瘫组和对照组的载脂蛋白E基因型和等位基因,并探讨载脂蛋白E基因多态性与脑性瘫痪的关系.结果 对照组和脑瘫组载脂蛋白E基因型分布符合Hardy-Weinberg定律（P＞0.05）,对照组与脑瘫组的载脂蛋白E基因型和等位基因频率分布差异有统计学意义（P＜0.01）,携带ε4等位基因在对照组、脑瘫组间差异有统计学意义（P＜0.01）,携带ε4等位基因的儿童患脑性瘫痪的风险性提高5.455倍（OR=5.455,95%CI：2.059～14.455）.结论 载脂蛋白E的ε4等位基因与脑性瘫痪的发病相关,是脑性瘫痪发病的遗传易感因子.

Objective To investigate the association between apolipoprotein E （apoE） genotype polymorphism and cerebral palsy （CP） in Han Chinese children. Methods Two hundred and forty Han Chinese children were selected, including 120 children with cerebral palsy （CP group） and 120 normal children （control group）.Polymerase chain reaction-restricted fragment length polymorphism analysis was used to determine the genotype and alleles of apoE genotype in the two groups. Results The genotype distributions of apoE in the two groups were consistent with the existence of a Hardy-Weinberg equilibrium. There were significant differences in the distributions of allelic frequency and apoE genotype between the two groups. Carrying the ε4 allele was related to cerebral palsy, and the overall risk for cerebral palsy was elevated about 5.5-fold among children carrying the ε4 allele.Conclusions There is an association between apoE genotype and cerebral palsy, and apoE＇s ε4 allele is the associated risk factor.