The genomic basis of cerebral palsy: a HuGE systematic literature review

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 nucl...

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Bibliographic Details
Published in:Human genetics 2009-07, Vol.126 (1), p.149-172
Main Authors: O’Callaghan, M. E., MacLennan, A. H., Haan, E. A., Dekker, G.
Format: Article
Language:English
Subjects:
Apolipoproteins
Apolipoproteins E - genetics
Biomedical and Life Sciences
Biomedicine
Blood coagulation factors
Case-Control Studies
Cerebral palsy
Cerebral Palsy - genetics
Chromosomes
Cohort Studies
Cytokines
Databases, Factual
Factor V - genetics
Forecasting
Gene Function
Genes
Genetic aspects
Genomes
Genotype & phenotype
Guidelines as Topic
Haplotypes
Human Genetics
Humans
Literature reviews
Lymphotoxin-alpha - genetics
Mannose-Binding Lectin - genetics
Metabolic Diseases
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Molecular Medicine
Mutation
Nitric Oxide Synthase Type III - genetics
Physiology
Polymorphism
Polymorphism, Single Nucleotide
Proteins
Review Article
Single nucleotide polymorphisms
Systematic review
Thrombosis
Tumor Necrosis Factor-alpha - genetics
Tumor necrosis factor-TNF
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Description
Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-009-0638-5