Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Kangfuqian Street 7, Zhengzhou, 450052, People's Republic of China.
Mol Genet Genomics. 2014 Jun;289(3):411-6. doi: 10.1007/s00438-014-0818-4. Epub 2014 Feb 13.
Apolipoprotein E (APOE, protein; ApoE, gene) is a lipid transport protein abundantly present in brain cells. Previous studies have suggested that there is an association between genetic variants of ApoE and susceptibility to cerebral palsy (CP). The purpose of this study was to explore whether the ApoE gene is involved in the etiology of CP in the Chinese population. In this study, 350 CP patients and 242 healthy control children were recruited. Genomic DNA was prepared from venous blood and all five single nucleotide polymorphisms (SNPs) in ApoE (rs769446, rs405509, rs121918399, rs429358, and rs190853081) were detected by the MassARRAY platform-based genotyping approach. The SHEsis program was used to analyze the genotyping data, and we systemically analyzed the association of the ApoE SNPs with different subtypes of CP. No significant association was detected between the e4 identified by the C allele of rs429358 and CP, but there were significant differences in allelic frequencies between the CP patients and controls at rs769446 (P = 0.005, P = 0.025 after Bonferroni correction), as well as between the CP patients with preterm birth (<34 gestational weeks) and controls at rs769446 (P = 0.001, P = 0.005 after Bonferroni correction). A haplotype consisting of the five SNPs rs769446(C), rs405509(C), rs121918399(C), rs429358(T), and rs190853081(G) was associated with a decreased risk of CP (P = 0.002 after Bonferroni correction). However, we found no significant association between any of the other three SNPs and CP based on different subgroup analyses. This study provides the first evidence that ApoE gene polymorphisms are a potential risk factor for CP in the Chinese population.
载脂蛋白 E（APOE，蛋白；ApoE，基因）是一种大量存在于脑细胞中的脂质转运蛋白。先前的研究表明，APOE 基因的遗传变异与脑瘫（CP）易感性之间存在关联。本研究旨在探讨 ApoE 基因是否与中国人群 CP 的病因有关。在这项研究中，共招募了 350 例 CP 患者和 242 例健康对照儿童。从静脉血中提取基因组 DNA，采用 MassARRAY 平台基于基因分型的方法检测 ApoE 中 5 个单核苷酸多态性（SNP）（rs769446、rs405509、rs121918399、rs429358 和 rs190853081）。采用 SHEsis 程序分析基因分型数据，并系统分析 ApoE SNPs 与不同亚型 CP 的相关性。未发现 rs429358 的 C 等位基因鉴定的 e4 与 CP 之间存在显著关联，但在 CP 患者和对照组之间 rs769446 的等位基因频率存在显著差异（P=0.005，Bonferroni 校正后 P=0.025），CP 患者与对照组之间 rs769446 的等位基因频率也存在显著差异（P=0.001，Bonferroni 校正后 P=0.005）。由 rs769446(C)、rs405509(C)、rs121918399(C)、rs429358(T)和 rs190853081(G)组成的包含 5 个 SNPs 的单体型与 CP 风险降低相关（Bonferroni 校正后 P=0.002）。然而，根据不同的亚组分析，我们没有发现其他 3 个 SNP 与 CP 之间存在显著关联。本研究首次提供了 ApoE 基因多态性是中国人群 CP 潜在危险因素的证据。
