The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.5114/aoms.2011.20611 http://hdl.handle.net/11449/41993 |
Resumo: | Introduction: Sickle cell disease (SCD) is an inflammatory condition with an increase in the adhesion of sickled erythrocytes, and it is a potential cause of vaso-occlusive episodes, an event related to clinical manifestations, morbidity and mortality. The cystathionine beta-synthase enzyme gene (CBS) and the methylenetetrahydrofolate reductase enzyme gene (MTHFR) are risk factors for thromboembolic disorders. This study evaluated the frequency of the 844ins68 CBS and C677T MTHFR gene polymorphisms and their possibility to be risk factors for vaso-occlusive crises.Material and methods: In total 91 blood samples from SCD patients were studied by PCR-RFLP and PCR-allele-specific, for the SCD genotype confirmation and polymorphism identification.Results: The presence of clinical manifestations related to vaso-occlusive crises were more frequent among patients with the Hb SS genotype (p = 0.007). The CBS enzyme gene was three times more frequent (p = 0.011) among patients with vaso-occlusive complications. The MTHFR gene mutation frequency showed no increased risk for vaso-occlusive crises in SCD patients (p = 0.193). The interaction between the two polymorphisms was evaluated in 12.08% of the SCD patients and doubled the vaso-occlusive disease risk (relative risk: 2.16).Conclusions: We conclude that the presence of 844ins68 CBS and C677T MTHFR gene polymorphism was a risk factor for vaso-occlusive episodes in the SCD patients evaluated. |
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The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell diseaseSickle cell diseasePolymorphismcystathionine beta-synthasemethylenetetrahydrofolate reductaseIntroduction: Sickle cell disease (SCD) is an inflammatory condition with an increase in the adhesion of sickled erythrocytes, and it is a potential cause of vaso-occlusive episodes, an event related to clinical manifestations, morbidity and mortality. The cystathionine beta-synthase enzyme gene (CBS) and the methylenetetrahydrofolate reductase enzyme gene (MTHFR) are risk factors for thromboembolic disorders. This study evaluated the frequency of the 844ins68 CBS and C677T MTHFR gene polymorphisms and their possibility to be risk factors for vaso-occlusive crises.Material and methods: In total 91 blood samples from SCD patients were studied by PCR-RFLP and PCR-allele-specific, for the SCD genotype confirmation and polymorphism identification.Results: The presence of clinical manifestations related to vaso-occlusive crises were more frequent among patients with the Hb SS genotype (p = 0.007). The CBS enzyme gene was three times more frequent (p = 0.011) among patients with vaso-occlusive complications. The MTHFR gene mutation frequency showed no increased risk for vaso-occlusive crises in SCD patients (p = 0.193). The interaction between the two polymorphisms was evaluated in 12.08% of the SCD patients and doubled the vaso-occlusive disease risk (relative risk: 2.16).Conclusions: We conclude that the presence of 844ins68 CBS and C677T MTHFR gene polymorphism was a risk factor for vaso-occlusive episodes in the SCD patients evaluated.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Univ Estadual Paulista, Dept Biol, BR-15054000 São Paulo, BrazilFed Univ Goias UFG, Sch Med, Clin Hosp, Goiania, Go, BrazilUniv Estadual Paulista, Dept Biol, BR-15054000 São Paulo, BrazilTermedia Publishing House LtdUniversidade Estadual Paulista (Unesp)Universidade Federal de Goiás (UFG)Jacob, Maza Alves [UNESP]Bastos, Celso da CunhaBonini-Domingos, Claudia Regina [UNESP]2014-05-20T15:33:20Z2014-05-20T15:33:20Z2011-02-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article97-101http://dx.doi.org/10.5114/aoms.2011.20611Archives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 7, n. 1, p. 97-101, 2011.1734-1922http://hdl.handle.net/11449/4199310.5114/aoms.2011.20611WOS:00029074780001632794280661767190000-0002-4603-9467Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengArchives of Medical Science2.3440,889info:eu-repo/semantics/openAccess2021-11-24T11:12:46Zoai:repositorio.unesp.br:11449/41993Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T21:23:58.243352Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
title |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
spellingShingle |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease Jacob, Maza Alves [UNESP] Sickle cell disease Polymorphism cystathionine beta-synthase methylenetetrahydrofolate reductase |
title_short |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
title_full |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
title_fullStr |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
title_full_unstemmed |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
title_sort |
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease |
author |
Jacob, Maza Alves [UNESP] |
author_facet |
Jacob, Maza Alves [UNESP] Bastos, Celso da Cunha Bonini-Domingos, Claudia Regina [UNESP] |
author_role |
author |
author2 |
Bastos, Celso da Cunha Bonini-Domingos, Claudia Regina [UNESP] |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) Universidade Federal de Goiás (UFG) |
dc.contributor.author.fl_str_mv |
Jacob, Maza Alves [UNESP] Bastos, Celso da Cunha Bonini-Domingos, Claudia Regina [UNESP] |
dc.subject.por.fl_str_mv |
Sickle cell disease Polymorphism cystathionine beta-synthase methylenetetrahydrofolate reductase |
topic |
Sickle cell disease Polymorphism cystathionine beta-synthase methylenetetrahydrofolate reductase |
description |
Introduction: Sickle cell disease (SCD) is an inflammatory condition with an increase in the adhesion of sickled erythrocytes, and it is a potential cause of vaso-occlusive episodes, an event related to clinical manifestations, morbidity and mortality. The cystathionine beta-synthase enzyme gene (CBS) and the methylenetetrahydrofolate reductase enzyme gene (MTHFR) are risk factors for thromboembolic disorders. This study evaluated the frequency of the 844ins68 CBS and C677T MTHFR gene polymorphisms and their possibility to be risk factors for vaso-occlusive crises.Material and methods: In total 91 blood samples from SCD patients were studied by PCR-RFLP and PCR-allele-specific, for the SCD genotype confirmation and polymorphism identification.Results: The presence of clinical manifestations related to vaso-occlusive crises were more frequent among patients with the Hb SS genotype (p = 0.007). The CBS enzyme gene was three times more frequent (p = 0.011) among patients with vaso-occlusive complications. The MTHFR gene mutation frequency showed no increased risk for vaso-occlusive crises in SCD patients (p = 0.193). The interaction between the two polymorphisms was evaluated in 12.08% of the SCD patients and doubled the vaso-occlusive disease risk (relative risk: 2.16).Conclusions: We conclude that the presence of 844ins68 CBS and C677T MTHFR gene polymorphism was a risk factor for vaso-occlusive episodes in the SCD patients evaluated. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-02-01 2014-05-20T15:33:20Z 2014-05-20T15:33:20Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.5114/aoms.2011.20611 Archives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 7, n. 1, p. 97-101, 2011. 1734-1922 http://hdl.handle.net/11449/41993 10.5114/aoms.2011.20611 WOS:000290747800016 3279428066176719 0000-0002-4603-9467 |
url |
http://dx.doi.org/10.5114/aoms.2011.20611 http://hdl.handle.net/11449/41993 |
identifier_str_mv |
Archives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 7, n. 1, p. 97-101, 2011. 1734-1922 10.5114/aoms.2011.20611 WOS:000290747800016 3279428066176719 0000-0002-4603-9467 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Archives of Medical Science 2.344 0,889 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
97-101 |
dc.publisher.none.fl_str_mv |
Termedia Publishing House Ltd |
publisher.none.fl_str_mv |
Termedia Publishing House Ltd |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1808129316673814528 |