Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , |
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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Brazilian Journal of Medical and Biological Research |
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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 |
_version_ |
1754302942961205248 |