Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/51731
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Type: Journal article
Title: Candidate Genes and Cerebral Palsy: A Population-Based Study
Author: Gibson, C.
MacLennan, A.
Dekker, G.
Goldwater, P.
Sullivan, T.
Munroe, D.
Tsang, S.
Stewart, C.
Nelson, K.
Citation: Pediatrics, 2008; 122(5):1079-1085
Publisher: Amer Acad Pediatrics
Issue Date: 2008
ISSN: 0031-4005
1098-4275
Statement of
Responsibility: 
Catherine S. Gibson, Alastair H. MacLennan, Gustaaf A. Dekker, Paul N. Goldwater, Thomas R. Sullivan, David J. Munroe, Shirley Tsang, Claudia Stewart and Karin B. Nelson
Abstract: OBJECTIVE: The objective of this study was to examine whether selected genetic polymorphisms in the infant are associated with later-diagnosed cerebral palsy. METHODS: A population-based case-control study was conducted of 28 single-nucleotide polymorphisms measured in newborn screening blood spots. A total of 413 children with later-diagnosed cerebral palsy were born to white women in South Australia in 1986-1999, and there were 856 control children. Distributions of genotypic frequencies were examined in total cerebral palsy, in gestational age groups, and by types of cerebral palsy and gender. Genotyping was performed by using a TaqMan assay. RESULTS: For inducible nitric-oxide synthase, possession of the T allele was more common in all children with cerebral palsy and for heterozygotes who were born at term. For lymphotoxin alpha, homozygous variant status was associated with risk for cerebral palsy and with spastic hemiplegic or quadriplegic cerebral palsy. Among term infants, heterozygosity for the endothelial protein C receptor single-nucleotide polymorphism was more frequent in children with cerebral palsy. In preterm infants, the variant A allele of interleukin 8 and heterozygosity for the beta-2 adrenergic receptor were associated with cerebral palsy risk. Interleukin 8 heterozygote status was associated with spastic diplegia. Variants of several genes were associated with cerebral palsy in girls but not in boys. CONCLUSIONS: Two of the 28 single-nucleotide polymorphisms examined were associated with all types of spastic cerebral palsy in both gestational age groups and others with cerebral palsy in gestational age or cerebral palsy subgroups. Some of these associations support previous findings. There may be a genetic contribution to cerebral palsy risk, and additional investigation is warranted of genes and gene-environment interactions in cerebral palsy.
Keywords: cerebral palsy; genetics; prematurity; nitricoxide synthase; IL-8
RMID: 0020083302
DOI: 10.1542/peds.2007-3758
Appears in Collections:Obstetrics and Gynaecology publications
Cerebral Palsy Research Group publications

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