载脂蛋白 E 基因型与缺氧缺血性脑病婴儿的结局。
Apolipoprotein E genotype and outcome in infants with hypoxic-ischemic encephalopathy.
机构信息
Department of Pediatrics, Duke University, Durham, North Carolina.
Social, Statistical, and Environmental Sciences, RTI International, Research Triangle Park, North Carolina.
出版信息
Pediatr Res. 2014 Mar;75(3):424-30. doi: 10.1038/pr.2013.235. Epub 2013 Dec 9.
BACKGROUND
Adults with the apolipoprotein E (APOE) gene alleles e4 and e2 are at high risk of poor neurological outcome after brain injury. The e4 allele has been associated with cerebral palsy (CP), and the e2 allele has been associated with worse neurological outcome with congenital heart disease. This study was done to test the hypothesis that the APOE genotype is associated with outcome among neonates who survive after hypoxic-ischemic encephalopathy (HIE).
METHODS
We conducted a cohort study of infants who survived HIE and had 18-22 mo standardized neurodevelopmental evaluations to assess associations between disability and the APOE genotypes e3/e3, e4/-, and e2/-.
RESULTS
A total of 139 survivors were genotyped. Of these, 86 (62%) were of the e3/e3, 41 (29%) were of the e4/-, and 14 (10%) were of the e2/- genotypes. One hundred and twenty-nine infants had genotype and follow-up data; 26% had moderate or severe disabilities. Disability prevalence was 30 and 19% among those with and without the e3/e3 genotype, 25 and 26% among those with and without the e2 allele, and 18 and 29% among those with and without the e4 allele, respectively. None of the differences were statistically significant. CP prevalence was also similar among genotype groups.
CONCLUSION
Disability was not associated with the APOE genotype in this cohort of HIE survivors.
背景
载脂蛋白 E (APOE) 基因等位基因 e4 和 e2 的成年人在脑损伤后发生不良神经预后的风险较高。e4 等位基因与脑瘫 (CP) 有关，e2 等位基因与先天性心脏病的神经预后较差有关。本研究旨在检验 APOE 基因型与缺氧缺血性脑病 (HIE) 后存活的新生儿预后之间存在相关性的假设。
方法
我们进行了一项队列研究，纳入了存活的 HIE 患儿，并对其进行了 18-22 个月的标准化神经发育评估，以评估残疾与 APOE 基因型 e3/e3、e4/-和 e2/-之间的相关性。
结果
共对 139 例幸存者进行了基因分型。其中，86 例（62%）为 e3/e3 基因型，41 例（29%）为 e4/-基因型，14 例（10%）为 e2/-基因型。有 129 例患儿具有基因型和随访数据；26%的患儿存在中度或重度残疾。有 e3/e3 基因型的患儿中，残疾发生率为 30%，无 e3/e3 基因型的患儿中，残疾发生率为 29%，有 e2 等位基因的患儿中，残疾发生率为 25%，无 e2 等位基因的患儿中，残疾发生率为 26%，有 e4 等位基因的患儿中，残疾发生率为 18%，无 e4 等位基因的患儿中，残疾发生率为 29%。差异均无统计学意义。各组 CP 发生率也相似。
结论
在本 HIE 幸存者队列中，残疾与 APOE 基因型无关。
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