Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy

Detalhes bibliográficos
Autor(a) principal: Kuzmanić Šamija,R.
Data de Publicação: 2014
Outros Autores: Primorac,D., Rešić,B., Pavlov,V., Čapkun,V., Punda,H., Lozić,B., Zemunik,T.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Medical and Biological Research
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869
Resumo: 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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spelling Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathyClinical contributorsHypoxic-ischemic encephalopathyNOS3 gene polymorphismsThe 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.Associação Brasileira de Divulgação Científica2014-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869Brazilian Journal of Medical and Biological Research v.47 n.10 2014reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/1414-431X20143938info:eu-repo/semantics/openAccessKuzmanić Šamija,R.Primorac,D.Rešić,B.Pavlov,V.Čapkun,V.Punda,H.Lozić,B.Zemunik,T.eng2015-09-04T00:00:00Zoai:scielo:S0100-879X2014001000869Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2015-09-04T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false
dc.title.none.fl_str_mv Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
title Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
spellingShingle Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
Kuzmanić Šamija,R.
Clinical contributors
Hypoxic-ischemic encephalopathy
NOS3 gene polymorphisms
title_short Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
title_full Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
title_fullStr Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
title_full_unstemmed Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
title_sort Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
author Kuzmanić Šamija,R.
author_facet Kuzmanić Šamija,R.
Primorac,D.
Rešić,B.
Pavlov,V.
Čapkun,V.
Punda,H.
Lozić,B.
Zemunik,T.
author_role author
author2 Primorac,D.
Rešić,B.
Pavlov,V.
Čapkun,V.
Punda,H.
Lozić,B.
Zemunik,T.
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Kuzmanić Šamija,R.
Primorac,D.
Rešić,B.
Pavlov,V.
Čapkun,V.
Punda,H.
Lozić,B.
Zemunik,T.
dc.subject.por.fl_str_mv Clinical contributors
Hypoxic-ischemic encephalopathy
NOS3 gene polymorphisms
topic Clinical contributors
Hypoxic-ischemic encephalopathy
NOS3 gene polymorphisms
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1414-431X20143938
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv Brazilian Journal of Medical and Biological Research v.47 n.10 2014
reponame:Brazilian Journal of Medical and Biological Research
instname:Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
instname_str Associação Brasileira de Divulgação Científica (ABDC)
instacron_str ABDC
institution ABDC
reponame_str Brazilian Journal of Medical and Biological Research
collection Brazilian Journal of Medical and Biological Research
repository.name.fl_str_mv Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)
repository.mail.fl_str_mv bjournal@terra.com.br||bjournal@terra.com.br
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