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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Sociedade Brasileira de Patologia Clínica
2018-06-01
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Series: | Jornal Brasileiro de Patologia e Medicina Laboratorial |
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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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format | Article |
id | doaj.art-bc7a2642e85c4f24a4d7a531cc8cb017 |
institution | Directory Open Access Journal |
issn | 1678-4774 |
language | English |
last_indexed | 2024-12-20T09:22:21Z |
publishDate | 2018-06-01 |
publisher | Sociedade Brasileira de Patologia Clínica |
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series | Jornal Brasileiro de Patologia e Medicina Laboratorial |
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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