title: Child apolipoprotein E gene variants and risk of cerebral palsy: estimation from case-parent triads.
abstract: OBJECTIVE
  To use case-parent triad data to investigate if cerebral palsy (CP) is associated with variants of the APOE gene, the rs59007384 SNP of the TOMM40 gene or combined haplotypes of the two genes.
  
  
  METHODS
  DNA was analyzed in buccal swabs from 235 children with CP, their parents and a sibling. The relative risks (RR) with 95% confidence intervals (CI) that the children would have a distribution of APOE genotypes, rs59007384 variants or combined haplotypes deviating from Mendelian inheritance were estimated.
  
  
  RESULTS
  Children with CP were more likely than expected to carry the APOEε3 allele (RR 7.5; CI: 0.99-53.7 for heterozygotes and 10.3; CI: 1.4-79.6 for homozygotes), and to have the haplotype of APOEε3 and rs59007384 G (RR 2.4; CI: 1-5.7 for heterozygotes, RR 3.7; CI: 1.4-9.5 for homozygotes) whereas the distribution was as expected for rs59007384 alone. In the subgroup analyses the findings were confined to children born preterm. Among siblings the distribution of these genes was as expected according to Mendelian inheritance.
  
  
  CONCLUSIONS
  We speculate that children with APOEε2/APOEε4 alleles are more likely to die following cerebral injury in utero, resulting in a higher than expected proportion of children with CP carrying the APOEε3 allele.
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Norway. Electronic address: magne.stoknes@gmail.com.
authors.forename: Magne
authors.initials: M
authors.lastname: Stoknes
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Norway.
authors.forename: Espen
authors.initials: E
authors.lastname: Lien
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Vestfold Hospital Trust, The Cerebral Palsy Register of Norway, Tønsberg, Norway.
authors.forename: Guro L
authors.initials: GL
authors.lastname: Andersen
authors.affiliation: DNA Science Core, University of Virginia School of Medicine, Charlottesville, VA, USA.
authors.forename: Yongde
authors.initials: Y
authors.lastname: Bao
authors.affiliation: Department of Pediatrics, University of Virginia, Charlottesville, VA, USA; Cerebral Palsy International Research Foundation, New York, USA.
authors.forename: James A
authors.initials: JA
authors.lastname: Blackman
authors.affiliation: Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
authors.forename: Rolv Terje
authors.initials: RT
authors.lastname: Lie
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Norway.
authors.forename: Torstein
authors.initials: T
authors.lastname: Vik
mesh_terms: D000483:Alleles; D053318:Apolipoprotein E3 / Q000235:genetics*; D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D010290:Parents; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis; D012306:Risk; D012720:Severity of Illness Index
chemical_list: D053318:Apolipoprotein E3; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C400783:TOMM40 protein, human
keywords: Apolipoprotein E; Case–parent triads; Cerebral palsy; Genetics