Candidate Gene Polymorphisms Do Not Differ Between Newborns With Stroke and Normal Controls

Department of Pediatrics, University of California, San Francisco, San Francisco, California, United States
Stroke (Impact Factor: 5.72). 12/2006; 37(11):2678-83. DOI: 10.1161/01.STR.0000244810.91105.c9
Source: PubMed


Neonatal stroke is increasingly recognized with an estimated incidence of one in 4000 live births per year. Pathways involved in the pathophysiology of neonatal stroke are diverse and may include thrombosis and thrombolysis, vascular reactivity, and inflammation.
We compared frequencies of polymorphisms in genes regulating thrombosis and thrombolysis, nitric oxide, cytokines, vascular tone, and cell adhesion in a hospital-based cohort of 59 newborns with stroke relative to a random sample of 437 California newborns.
Of the 31 polymorphisms evaluated, no variant allele was significantly more common than the reference allele in newborns with stroke than in the general population.
Using a series of polymorphisms in pathways implicated in the etiology of stroke, newborns with stroke were not distinguished from a normal control group. Further studies are needed to determine the interaction of genetic polymorphisms with environmental risk factors in the pathogenesis of neonatal stroke.

Download full-text


Available from: Yvonne Wu,
  • Source
    • "They also showed an association of functional missense NOS3 polymorphism rs1799983 (–894 G/T or Glu298Asp) with cerebral palsy, however we did not replicate this finding in our study (16). The second study revealed the association between NOS3 promoter -922A (rs1800779) polymorphism and preterm birth among Caucasian children with cerebral palsy, but found no correlation for the second analyzed polymorphism, rs1799983 (-894 G/T) (Glu298Asp) of the same gene (17,33). In the present study, heterozygous TG genotype of rs1808593 SNP was found less frequently, whereas homozygous GG genotype was found more frequently in the group of HIE patients than in controls. "
    [Show abstract] [Hide abstract]
    ABSTRACT: To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE). The study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to previously confirmed NOS3-associated SNP rs1800779. Genotyping was conducted using real-time polymerase chain reaction (PCR). Association analyses were performed according to allelic and genotypic distribution. Allelic test did not show any SNP association with HIE. SNP rs1808593 showed genotype association (P=0.008) and rs1800783-rs1800779 TG haplotype showed an association with HIE (P<0.001). The study had 80% statistical power to detect (α=0.05) an effect with odds ratio (OR)=2.07 for rs3918186, OR=1.69 for rs3918188, OR=1.70 for rs1800783, OR=1.80 for rs1808593, OR=2.10 for rs3918227, OR=1.68 for rs1800779, and OR=1.76 for rs1799983, assuming an additive model. Despite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.
    Croatian Medical Journal 06/2011; 52(3):396-402. DOI:10.3325/cmj.2011.52.396 · 1.31 Impact Factor
  • Source
    • "According to local practice, some laboratories first evaluated resistance to activated protein C (APC), a coagulation screening test for F5 R5006Q. The data were compared to those determined in cases and controls on other studies addressing perinatal arterial ischemic stroke and including at least 15 children (Hagstrom et al, 1998; Golomb et al, 2001; Mercuri et al, 2001; Kurnik et al 2003; Miller et al, 2006; Curry et al, 2007; Herak et al, 2009; Simchen et al, 2009), and to the meta-analysis (Kenet et al, 2010). Data on F5 R506Q/APC resistance were available for 86 children and 76 mothers, and data on F2 G20210A mutation for 80 children and 67 mothers. "

    British Journal of Haematology 09/2010; 150(6):709-12. DOI:10.1111/j.1365-2141.2010.08259.x · 4.71 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: We present here results from studies of the histories of thrombosis and polymorphisms of the hemocoagulation system genes in 27 children with ischemic stroke. The structures of allelic variants are compared in the Russian and non-Russian populations. All patients had more than four procoagulatory mutations. The most frequent were polymorphisms of the FGB fibrinogen gene (G-455A), the ITGA2 thrombocyte receptor gene (C807T), and the PAI-1 fibrinolysin gene (675 4G4G). The family histories of 81.5% of the children included thrombotic episodes and vascular events in relatives aged less than 50 years. Current data on the frequencies of mutations in populations of sick and healthy children are analyzed, along with their phenotypic characteristics.
    Neuroscience and Behavioral Physiology 03/2013; 43(3). DOI:10.1007/s11055-013-9742-z
Show more