Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Type: Journal article
Title: The genomic basis of cerebral palsy: A HuGE systematic literature review
Author: O'Callaghan, M.
MacLennan, A.
Haan, E.
Dekker, G.
Citation: Human Genetics, 2009; 126(1):149-172
Publisher: Springer
Issue Date: 2009
ISSN: 0340-6717
Statement of
M. E. O’Callaghan, A. H. MacLennan, E. A. Haan, G. Dekker and The South Australian Cerebral Palsy Research Group
Abstract: Cerebral palsy has been associated with a number of candidate genes. To date, no systematic review has been conducted to synthesise genetic polymorphism associations with cerebral palsy. We apply the HuGE NET guidelines to search PubMed and EMBASE databases for publications investigating single nucleotide polymorphisms (SNPs) and cerebral palsy outcome. 22 papers were identified and are discussed in this review. Candidate genes were grouped as (1) thrombophilic, (2) cytokine, (3) apolipoprotein E or (4) other SNPs, largely related to cardiovascular physiology/pathophysiology and the functioning of the immune system. Of the studies identified, cohorts were usually small, without adequate control and ethnically diverse, making direct comparison between studies difficult. The most promising candidate genes include factor V Leiden, methylenetetrahydrofolate reductase, lymphotoxin-α, tumour necrosis factor-α, eNOS and mannose binding lectin. Large case–control studies are needed to confirm these candidates with attention given to cohort ethnicity, cerebral palsy subtype analysis and possible multiple gene and gene–environment interactions.
Keywords: South Australian Cerebral Palsy Research Group
Cerebral Palsy
Methylenetetrahydrofolate Reductase (NADPH2)
Tumor Necrosis Factor-alpha
Apolipoproteins E
Factor V
Mannose-Binding Lectin
Case-Control Studies
Cohort Studies
Polymorphism, Single Nucleotide
Databases, Factual
Nitric Oxide Synthase Type III
Guidelines as Topic
Description: © 2009 Springer. Part of Springer Science+Business Media
DOI: 10.1007/s00439-009-0638-5
Appears in Collections:Aurora harvest 5
Cerebral Palsy Research Group publications
Obstetrics and Gynaecology publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.