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Child apolipoprotein E gene variants and risk of cerebral palsy: estimation from case-parent triads

Magne Stoknes1, Espen Lien1, Guro L Andersen2

  • 1Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Norway.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|January 19, 2015
PubMed

Insights

Cerebral palsy (CP) is linked to the APOE gene, specifically the APOEε3 allele, particularly in preterm infants. This suggests a potential role for APOE in CP development, influencing prenatal outcomes.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Cerebral palsy (CP) is a complex neurological disorder with multifactorial causes.
  • The apolipoprotein E (APOE) gene is known to play a role in various neurological functions and diseases.
  • Genetic factors, including specific gene variants and haplotypes, are increasingly recognized as potential contributors to CP etiology.

Purpose of the Study:

  • To investigate the association between cerebral palsy (CP) and genetic variants in the APOE gene.
  • To examine the role of the rs59007384 single nucleotide polymorphism (SNP) in the TOMM40 gene in CP.
  • To analyze combined haplotypes of APOE and TOMM40 genes in relation to CP risk.

Main Methods:

  • Utilized case-parent triad data from 235 children diagnosed with CP, their parents, and a sibling.
  • Analyzed DNA extracted from buccal swabs to determine genotypes and haplotypes.
  • Estimated relative risks (RR) and 95% confidence intervals (CI) to assess deviations from expected Mendelian inheritance patterns for specific genetic variants and haplotypes.

Main Results:

  • Children with CP showed a higher than expected prevalence of the APOEε3 allele (RR 7.5-10.3).
  • A combined haplotype of APOEε3 and rs59007384 G was also associated with increased risk in children with CP (RR 2.4-3.7).
  • These associations were primarily observed in preterm infants, with no significant deviations found in siblings or for rs59007384 alone.

Conclusions:

  • The study suggests a potential association between the APOEε3 allele and an increased risk of cerebral palsy, particularly in preterm births.
  • A speculative mechanism proposes that individuals with APOEε2/APOEε4 alleles may have a higher mortality rate following in utero cerebral injury, leading to a relative enrichment of APOEε3 carriers among CP cases.
  • Further research is warranted to elucidate the precise role of APOE genetics in the pathogenesis of cerebral palsy.
Abstract

Keywords:
Apolipoprotein ECase–parent triadsCerebral palsyGenetics

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