Association of apolipoprotein E genotype and cerebral palsy in children
Maxine M Kuroda1, Mary E Weck, John F Sarwark
1Department of Pediatrics, Division of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Insights
Apolipoprotein E (APOE) epsilon4 and epsilon2 genotypes are linked to increased cerebral palsy risk. Children with severe neurological impairment were more likely to carry the APOE epsilon4 allele.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Cerebral palsy (CP) is a group of disorders affecting movement and posture.
- The role of genetic factors, such as apolipoprotein E (APOE) genotype, in CP development is under investigation.
- APOE epsilon4 allele carriage has been hypothesized to be associated with CP.
Purpose of the Study:
- To investigate the association between apolipoprotein E genotype and cerebral palsy.
- To determine if children with more severe neurological impairment are more likely to carry the APOE epsilon4 allele.
Main Methods:
- A cross-sectional study involving 209 children with cerebral palsy matched with healthy controls.
- APOE genotyping performed using DNA from buccal swabs.
- Severity of motor impairment assessed by physical therapists; occipitofrontal circumference measured.
Main Results:
- Overall risk for cerebral palsy was 3.4-fold higher in children carrying the APOE epsilon4 allele, particularly those with quadriplegia/triplegia.
- APOE epsilon4 carriage was associated with increased cerebral palsy severity and a trend toward microcephaly.
- APOE epsilon2 allele carriage was also linked to a greater risk of cerebral palsy.
Conclusions:
- APOE epsilon4 and epsilon2 genotypes are implicated as susceptibility factors for cerebral palsy and adverse neurologic outcomes post-perinatal brain injury.
- Further research is needed to elucidate the specific pathogenetic roles of APOE in cerebral palsy development.
Objectives:
We tested the hypotheses that apolipoprotein E genotype, in particular carriage of the epsilon4 allele, is more likely to be associated with cerebral palsy and that children with more severe neurologic impairment are more likely to carry this allele.
Methods:
In this cross-sectional study, 209 children with cerebral palsy were matched with healthy control subjects according to gender and race. Diagnosis of cerebral palsy was confirmed through physician consultation, medical chart review, and parent interview. Apolipoprotein E genotyping was performed with DNA obtained with buccal swabs. Severity of motor impairment was rated by physical therapists, and occipitofrontal circumference was measured.
Results:
Compared with gender- and race-matched control subjects, overall risk for cerebral palsy was elevated 3.4-fold among children carrying an epsilon4 allele and was particularly elevated for children with quadriplegia/triplegia. This finding was independent of birth weight. Carriage of the epsilon4 allele was also associated with increased severity of cerebral palsy and with a trend toward increased likelihood for microcephaly. Moreover, children carrying an epsilon2 allele were at greater risk for cerebral palsy.
Conclusions:
These data implicate the apolipoprotein E epsilon4 and epsilon2 genotypes as susceptibility factors in determining neurologic outcomes after perinatal brain injury. Additional studies are warranted to establish the role of apolipoprotein E in specific pathogenetic pathways leading to cerebral palsy or poor neurologic outcomes after perinatal brain injury.
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