Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53455
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Type: Journal article
Title: Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian population
Author: McMichael, G.
Gibson, C.
Goldwater, P.
Haan, E.
Priest, K.
Dekker, G.
MacLennan, A.
Citation: Human Genetics, 2008; 124(4):411-416
Publisher: Springer
Issue Date: 2008
ISSN: 0340-6717
1432-1203
Statement of
Responsibility: 
Gai L. McMichael, Catherine S. Gibson, Paul N. Goldwater, Eric A. Haan, Kevin Priest, Gustaaf A. Dekker, Alastair H. MacLennan and for the South Australian Cerebral Palsy Research Group
Abstract: Apolipoprotein E (APOE) plays a significant role in lipid metabolism and has been implicated in the growth and repair of injured neurons. Two small studies have suggested an association between APOE genotype and cerebral palsy. We investigated if APOE genotype is associated with an increased risk for cerebral palsy, influences the type of cerebral palsy or interacts with prenatal viral infection to influence risk of cerebral palsy. The population-based case-control study comprised newborn screening cards of 443 Caucasian patients with cerebral palsy and 883 Caucasian matched controls. APOE genotyping was performed on DNA extracted from dried blood spots. Allelic and genotypic frequencies did not differ between cases and controls and combined frequencies were 0.10 (ε2), 0.76 (ε3), 0.14 (ε4), 0.03 (ε2/ε2), 0.10 (ε2/ε3), 0.03 (ε2/ε4), 0.02 (ε4/ε4), 0.21 (ε3/ε4), 0.61 (ε3/ε3). APOE genotype was correlated with cerebral palsy, type of cerebral palsy, gestation at birth and the presence of viral nucleic acids detected in previous work. Analysis by gestational age (all gestational ages, ≥37, 32–36 and <32 weeks) and type of cerebral palsy (all types, diplegia, hemiplegia and quadriplegia) showed no association between APOE genotype and cerebral palsy in this Caucasian population. An association between prenatal viral infection, APOE genotype and cerebral palsy was not demonstrated. These results did not confirm an association between APOE genotype, cerebral palsy, type of cerebral palsy and prenatal infection in a Caucasian population. Given the low frequency of APOE ε2 and some of the heterozygote and homozygote combinations in this study, a larger study is assessing this further.
Keywords: South Australian Cerebral Palsy Research Group; Humans; Cerebral Palsy; Apolipoproteins E; Prenatal Diagnosis; Case-Control Studies; Polymerase Chain Reaction; Pregnancy; Genotype; European Continental Ancestry Group; Female
RMID: 0020083293
DOI: 10.1007/s00439-008-0564-y
Appears in Collections:Obstetrics and Gynaecology publications
Cerebral Palsy Research Group publications

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