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The association of apolipoprotein E gene polymorphisms with cerebral palsy in Chinese infants
Yiran Xu1, Honglian Wang, Yanyan Sun
1Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Kangfuqian Street 7, Zhengzhou, 450052, People's Republic of China.
Insights
Genetic variants in the Apolipoprotein E (ApoE) gene are linked to cerebral palsy (CP) risk in the Chinese population. Specific ApoE gene polymorphisms may be a potential risk factor for CP development.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Apolipoprotein E (APOE) is a crucial lipid transport protein in brain cells.
- Previous research suggests a link between Apolipoprotein E (ApoE) gene variants and cerebral palsy (CP) susceptibility.
Purpose of the Study:
- To investigate the involvement of the ApoE gene in the etiology of cerebral palsy (CP) within the Chinese population.
- To analyze the association between specific ApoE single nucleotide polymorphisms (SNPs) and CP subtypes.
Main Methods:
- Genotyping of five Apolipoprotein E (ApoE) single nucleotide polymorphisms (SNPs) in 350 CP patients and 242 healthy controls using the MassARRAY platform.
- Analysis of genotyping data using the SHEsis program to assess allelic and haplotypic associations with CP.
- Subgroup analyses were conducted to examine associations with CP subtypes, including preterm birth.
Main Results:
- A significant difference in allelic frequencies was observed at rs769446 between CP patients and controls (P = 0.005).
- The rs769446 polymorphism showed significant association with CP in preterm birth cases (P = 0.001).
- A specific haplotype (rs769446(C), rs405509(C), rs121918399(C), rs429358(T), rs190853081(G)) was associated with a decreased risk of CP (P = 0.002).
Conclusions:
- Apolipoprotein E (ApoE) gene polymorphisms represent a potential risk factor for cerebral palsy (CP) in the Chinese population.
- The study provides the first evidence linking specific ApoE gene variants to CP etiology in this demographic.
Abstract:
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.
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