Apolipoprotein E genotype and cerebral palsy
Lucia W Braga1, Eliana V M Borigato, Carlos E Speck-Martins
1Neuropsychology Department, SARAH Network of Rehabilitation Hospitals, SMHS Quadra 501 CJ. A Trreo, Brasilia DF, Brazil. luciabraga@sarah.br
Insights
The APOE epsilon2 genotype is more common in individuals with cerebral palsy (CP). Further research is needed to explore links between APOE genotypes and specific comorbidities like epilepsy or microcephaly in CP patients.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Apolipoprotein E (APOE) is a crucial lipid transport protein in the brain.
- Understanding genetic factors like APOE genotype may offer insights into cerebral palsy (CP) etiology.
- Previous research has not extensively explored the APOE genotype's role in CP incidence or its association with clinical phenotypes.
Purpose of the Study:
- To investigate the association between Apolipoprotein E (APOE) genotype and the incidence of cerebral palsy (CP).
- To determine if specific APOE genotypes correlate with comorbid conditions or neurological deficit severity in individuals with CP.
Main Methods:
- A cross-sectional study compared 243 individuals with spastic CP to age-, race-, and sex-matched healthy controls.
- APOE genotyping was performed for all participants.
- Associations between APOE genotype and CP incidence, comorbidities, and neurological deficits were analyzed.
Main Results:
- The APOE epsilon2epsilon3 genotype was significantly more prevalent in the CP group (11%) compared to controls (5%), with an odds ratio of 2.8.
- The presence of the epsilon2 allele increased the likelihood of having CP (OR 3.2).
- No significant association was found between APOE genotype and the severity or distribution of neurological deficits. However, the epsilon4epsilon4 genotype was observed in four CP patients with epilepsy and microcephaly, while the epsilon3epsilon3 genotype was common in those with macrocephaly.
Conclusions:
- A higher prevalence of the APOE epsilon2 genotype is associated with cerebral palsy.
- The observed associations between specific APOE genotypes (epsilon4epsilon4 with epilepsy/microcephaly, epsilon3epsilon3 with macrocephaly) warrant further investigation in CP cohorts.
Aim:
Apolipoprotein E (APOE, protein; [ApoE, gene]) is a lipid transport protein abundantly present in brain cells. We investigated whether the APOE genotype is associated with cerebral palsy (CP) and whether patients with CP with comorbid conditions and more severe neurological deficits are likely to have a particular genotype.
Method:
In a cross-sectional study, 243 individuals with spastic CP (135 males, 108 females; mean age at data collection 11 year ([SD 6y 7mo], 34% with hemiplegia, 37% with diplegia, 29% with triplegia/tetraplegia; 44% with mild motor involvement), 31% with moderate motor involvement, 25% with severe motor involvement, were compared with healthy individuals matched by age, race, and sex to analyse the association between APOE genotype and the incidence of CP. Associations between the APOE genotype and the incidence of comorbidities and neurological deficits were studied in the group with CP.
Results:
The APOE epsilon2epsilon3 genotype was significantly more prevalent in the group with CP (11%) than the comparison group (5%) (odds ratio [OR] 2.8; 95% confidence interval [CI] 1.01-7.66). The presence of the epsilon2 allele raised the probability of having CP (OR 3.2; 95% CI 1.27-8.27). The presence of ApoE epsilon4 was not significantly different among groups. No relation was found between APOE genotype and severity of neurological deficit or distribution of motor involvement. Four patients with CP presented the epsilon4epsilon4 genotype, and all exhibited epilepsy and microcephaly. Eleven of 12 individuals with CP and macrocephaly carried the epsilon3epsilon3 genotype.
Interpretation:
A higher prevalence of the APOE epsilon2 genotype was found among those with CP. The association of microcephaly and epilepsy with the epsilon4epsilon4 genotype and the association of macrocephaly with epsilon3 demand further investigation.
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