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

• Published in: Jornal brasileiro de patologia e medicina laboratorial Vol. 54; no. 3; pp. 138 - 145
• Main Authors: Evangelista, Fernanda Cristina G., Rios, Danyelle R. A., Ribeiro, Daniel D., Carvalho, Maria das Graças, Dusse, Luci Maria S., Mota, Ana Paula L., Fernandes, Ana Paula S. M., Sabino, Adriano de Paula
• Format: Journal Article
• Language: English
• Published: Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia 01.06.2018
• Subjects: MEDICAL LABORATORY TECHNOLOGY; MEDICINE, RESEARCH & EXPERIMENTAL; PATHOLOGY; polymorphism genetic; apoenzymes; thrombosis; trombose; apoenzimas; polimorfismo genético
• DOI: 10.5935/1676-2444.20180026
• ISSN: 1676-2444; 1678-4774

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.