Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations

ABSTRACT Introduction: Arterial thrombosis is considered a multifactorial disease, resulting from the interaction of genetic and acquired risk factors. Objectives: The aim of this study was to investigate the presence of the polymorphism in inhibitor of plasminogen activator type 1 (PAI-1) and apo...

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Main Authors: Fernanda Cristina G. Evangelista, Danyelle R. A. Rios, Daniel D. Ribeiro, Maria das Graças Carvalho, Luci Maria S. Dusse, Ana Paula L. Mota, Ana Paula S. M. Fernandes, Adriano de Paula Sabino
Format: Article
Language:English
Published: Sociedade Brasileira de Patologia Clínica 2018-06-01
Series:Jornal Brasileiro de Patologia e Medicina Laboratorial
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000300138&tlng=en
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author Fernanda Cristina G. Evangelista
Danyelle R. A. Rios
Daniel D. Ribeiro
Maria das Graças Carvalho
Luci Maria S. Dusse
Ana Paula L. Mota
Ana Paula S. M. Fernandes
Adriano de Paula Sabino
author_facet Fernanda Cristina G. Evangelista
Danyelle R. A. Rios
Daniel D. Ribeiro
Maria das Graças Carvalho
Luci Maria S. Dusse
Ana Paula L. Mota
Ana Paula S. M. Fernandes
Adriano de Paula Sabino
author_sort Fernanda Cristina G. Evangelista
collection DOAJ
description ABSTRACT Introduction: Arterial thrombosis is considered a multifactorial disease, resulting from the interaction of genetic and acquired risk factors. Objectives: The aim of this study was to investigate the presence of the polymorphism in inhibitor of plasminogen activator type 1 (PAI-1) and apolipoprotein E (ApoE) genes and its interactions with PAI-1 levels and lipids and apolipoprotein profiles, respectively, as well as the frequencies of these polymorphisms and their association with thrombosis. Methods: Ninety-seven patients [48 with arterial ischemic stroke (IS) and 49 with peripheral arterial disease (PAD)], treated at the hematology medical service were included in this study. Polymorphisms were also investigated in 201 control subjects. Polymorphisms were investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: For the PAI-1 polymorphism, there were 54.2% heterozygous (HT) genotypes and 12.5% homozygous (HM) genotypes in the patients' group, and 52.7% HT genotypes and 21.3% HM genotypes in the controls. For the ApoE polymorphism, there were 56.3% (ε3ε3), 6.3% (ε4ε4), 8.3% (ε2ε3), 4.2% (ε2ε4) and 24.9% (ε3ε4) in the patients, and 61.2% (ε3ε3), 4.5% (ε4ε4), 8% (ε2ε3), 4.5% (ε2ε4) and 21.8% (ε3ε4) in the controls. Conclusion: No significant difference was observed by comparing patients and controls. In this study, no association was found between the presence of the evaluated polymorphisms and the occurrence of thrombotic events.
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spelling doaj.art-bc7a2642e85c4f24a4d7a531cc8cb0172022-12-21T19:45:15ZengSociedade Brasileira de Patologia ClínicaJornal Brasileiro de Patologia e Medicina Laboratorial1678-47742018-06-0154313814510.5935/1676-2444.20180026Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestationsFernanda Cristina G. EvangelistaDanyelle R. A. RiosDaniel D. RibeiroMaria das Graças CarvalhoLuci Maria S. DusseAna Paula L. MotaAna Paula S. M. FernandesAdriano de Paula SabinoABSTRACT Introduction: Arterial thrombosis is considered a multifactorial disease, resulting from the interaction of genetic and acquired risk factors. Objectives: The aim of this study was to investigate the presence of the polymorphism in inhibitor of plasminogen activator type 1 (PAI-1) and apolipoprotein E (ApoE) genes and its interactions with PAI-1 levels and lipids and apolipoprotein profiles, respectively, as well as the frequencies of these polymorphisms and their association with thrombosis. Methods: Ninety-seven patients [48 with arterial ischemic stroke (IS) and 49 with peripheral arterial disease (PAD)], treated at the hematology medical service were included in this study. Polymorphisms were also investigated in 201 control subjects. Polymorphisms were investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: For the PAI-1 polymorphism, there were 54.2% heterozygous (HT) genotypes and 12.5% homozygous (HM) genotypes in the patients' group, and 52.7% HT genotypes and 21.3% HM genotypes in the controls. For the ApoE polymorphism, there were 56.3% (ε3ε3), 6.3% (ε4ε4), 8.3% (ε2ε3), 4.2% (ε2ε4) and 24.9% (ε3ε4) in the patients, and 61.2% (ε3ε3), 4.5% (ε4ε4), 8% (ε2ε3), 4.5% (ε2ε4) and 21.8% (ε3ε4) in the controls. Conclusion: No significant difference was observed by comparing patients and controls. In this study, no association was found between the presence of the evaluated polymorphisms and the occurrence of thrombotic events.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000300138&tlng=enthrombosisapoenzymespolymorphism genetic
spellingShingle Fernanda Cristina G. Evangelista
Danyelle R. A. Rios
Daniel D. Ribeiro
Maria das Graças Carvalho
Luci Maria S. Dusse
Ana Paula L. Mota
Ana Paula S. M. Fernandes
Adriano de Paula Sabino
Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
Jornal Brasileiro de Patologia e Medicina Laboratorial
thrombosis
apoenzymes
polymorphism genetic
title Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
title_full Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
title_fullStr Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
title_full_unstemmed Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
title_short Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
title_sort apolipoprotein e and pai 1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations
topic thrombosis
apoenzymes
polymorphism genetic
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000300138&tlng=en
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