Paediatria Croatica, Vol. 57 No. 2, 2013.
Sažetak sa skupa
NOS3 GENE POLYMORPHISMS AND PERINATAL HYPOXIC-ISCHEMIC BRAIN DAMAGE
Radenka Kuzmanić Šamija
; Clinical Department of Pediatrics, Split University Hospital Center, Spinčićeva 1, Split, Croatia
Bernarda Lozić
; Clinical Department of Pediatrics, Split University Hospital Center, Spinčićeva 1, Split, Croatia
Tatijana Zemunik
; Department of Medical Biology, University of Split, School of Medicine, Spinčićeva 1, Split, Croatia
Biserka Rešić
; University of Split, School of Medicine, Spinčićeva 1, Split, Croatia
Sažetak
Perinatal hypoxic-ischemic encephalopathy is characterized by impaired cerebral circulation and increased activity of nitric oxide synthase. Activation of the nitric oxide synthase in endothelial cells has a neuroprotective role. The aim of this study was to test the association of NOS3 gene with perinatal hypoxic-ischemic encephalopathy. The study included 110 unrelated term or preterm born children (69 boys and 41girls) with perinatal hypoxic-ischemic encephalopathy and 128 term and preterm born children (60 boys and 68 girls) without any neurologic problems after two years. Children with perinatal perinatal hypoxic-ischemic encephalopathy fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Split University Hospital Center between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNPs) 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. Association analyses were performed according to allelic and genotypic distribution. Genotypic test detected association of rs1808593 tag SNP with perinatal hypoxic-ischemic encephalopathy (p=0.03). We found that TT genotype SNP rs1808593 (-10G/T intron 23) was more common in perinatal hypoxic-ischemic encephalopathy [OR 1.06 (95% CI 1.0-1.1) p=0.025]. We found that the TT genotype of SNP rs 1808593 was more frequent in children with brain damage confirmed by magnetic resonance imaging (p=0.015). We also found that AA genotype of SNP rs 3918186 was more frequent in children with normal Apgar score (p=0.025). We also observed rs1800783-rs1800779 TG haplotype association with perinatal hypoxic-ischemic encephalopathy (p<0.001). Allelic test did not reveal any SNP association with perinatal hypoxic-ischemic encephalopathy. We found that the T allele of SNP rs1808593 was more frequent in children with low Apgar score (p=0.015). In conclusion, despite the limited number of perinatal hypoxic-ischemic encephalopathy patients that reduced the statistical power of this study, we observed genotypic and haplotype associations of NOS3 polymorphisms with perinatal hypoxic-ischemic encephalopathy.
Ključne riječi
Hrčak ID:
105054
URI
Datum izdavanja:
25.6.2013.
Posjeta: 353 *