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Human Genetics

, Volume 126, Issue 1, pp 149–172 | Cite as

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

  • M. E. O’CallaghanEmail author
  • A. H. MacLennan
  • E. A. Haan
  • G. Dekker
  • The South Australian Cerebral Palsy Research Group
Review Article

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

Cerebral Palsy Mannose Binding Lectin Factor Versus Leiden Spastic Cerebral Palsy Prothrombin G20210A 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • M. E. O’Callaghan
    • 1
    Email author
  • A. H. MacLennan
    • 1
  • E. A. Haan
    • 2
  • G. Dekker
    • 1
  • The South Australian Cerebral Palsy Research Group
  1. 1.Discipline of Obstetrics and GynaecologyThe University of AdelaideAdelaideAustralia
  2. 2.Department of Genetic Medicine, SA Pathology, Women’s and Children’s Hospital and Discipline of PaediatricsThe University of AdelaideAdelaideAustralia

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