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Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy.
Kuzmanic Samija, R; Primorac, D; Resic, B; Pavlov, V; Capkun, V; Punda, H; Lozic, B; Zemunik, T.
Afiliação
  • Kuzmanic Samija R; Department of Pediatrics, University Hospital Split, Split, Croatia.
  • Primorac D; School of Medicine Split, University of Split, Split, Croatia.
  • Resic B; School of Medicine Split, University of Split, Split, Croatia.
  • Pavlov V; Department of Neonatology, University Hospital Split, Split, Croatia.
  • Capkun V; Department of Nuclear Medicine, University Hospital Split, Split, Croatia.
  • Punda H; School of Medicine Split, University of Split, Split, Croatia.
  • Lozic B; Department of Pediatrics, University Hospital Split, Split, Croatia.
  • Zemunik T; Department of Medical Biology, School of Medicine Split, University of Split, Split, Croatia.
Braz J Med Biol Res ; 47(10): 869-75, 2014 Oct.
Article em En | MEDLINE | ID: mdl-25140814
The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they had the most severe brain damage. Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage. The probability of brain damage was twice as high in children with the TT genotype than in children with the TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice as frequent in children with lower Apgar scores. This study strongly suggests associations of NOS3 gene polymorphism with intensity of brain damage and severity of the clinical picture in affected children.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Peso ao Nascer / Dano Encefálico Crônico / Hipóxia-Isquemia Encefálica / Óxido Nítrico Sintase Tipo III Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Braz J Med Biol Res Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Croácia País de publicação: Brasil
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Peso ao Nascer / Dano Encefálico Crônico / Hipóxia-Isquemia Encefálica / Óxido Nítrico Sintase Tipo III Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Braz J Med Biol Res Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Croácia País de publicação: Brasil