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Evaluation of signature of genes related to thromboty diseases in antiphospholipid syndrome

Grant number: 19/20136-0
Support Opportunities:Scholarships in Brazil - Master
Effective date (Start): September 01, 2020
Effective date (End): September 17, 2022
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Fernanda Loureiro de Andrade Orsi
Grantee:Bruna Cardoso Jacintho
Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated research grant:16/14172-6 - Investigation of the pathophysiological aspects and novel therapeutic approaches for thromboembolic disorders, AP.TEM
Associated scholarship(s):21/07150-4 - Autoantibodies against neutrophils extracellular traps and its association with antiphospholipid syndrome clinical manifestations: a large cohort study, BE.EP.MS


Antiphospholipid syndrome (APS) is a disease characterized by thrombosis or gestational complications. It occurs by the action of autoantibodies against beta2-glycoprotein I (²2GPI), a protein that binds to lipid membranes of various cells. Although the pathophysiology of thrombosis in APS is unknown, the action of antiphospholipid antibodies can trigger platelet activation, increased tissue factor expression, and activation of the coagulation cascade. Thrombus formation can occur indistinctly in any vein, artery or capillary in the human body, affecting different organs or tissues. APS is one of the rare clinical conditions in which patients may have venous, arterial or microcirculatory thrombosis. However, the mechanisms that lead to different thrombotic manifestations are not elucidated. Recently, it has been described that venous and arterial thrombosis share a transcriptome profile that would be associated with both diseases. It is possible that genes commonly expressed in arterial and venous thrombosis are part of the pathological mechanism of thrombotic APS. However, the role of these genes in APS has not been described so far. Therefore, the primary objective of this study is to determine gene expression of genes previously related to arterial and venous thrombosis in patients with thrombotic APS compared to controls with no history of thrombosis. We will also evaluate the association of these genes with the type of thrombosis, venous or arterial, caused by FAS. For this we will determine in patients and controls the gene expression of genes that were more associated with venous and arterial thrombosis (3 up-regulated and 3 down-regulated) in previous studies. Recognition of factors associated with different thromboses caused by APS may help to distinguish the spectrum of diseases grouped under the term "APS" and to establish possible new specific treatments for each type of thrombotic disease manifestation. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
JACINTHO, BRUNA CARDOSO; MAZETTO, BRUNA M.; HOUNKPE, BIDOSSESSI WILFRIED; DOS SANTOS, ANA PAULA ROSA; VAZ, CAMILA DE OLIVEIRA; OLIVEIRA, JOSE DIOGO; DE PAULA, ERICH, V; ORSI, FERNANDA ANDRADE. Evaluation of a Gene Signature Related to Thrombotic Manifestations in Antiphospholipid Syndrome. Blood, v. 140, p. 2-pg., . (19/20136-0)
JACINTHO, BRUNA CARDOSO; FONSECA, BRUNA DE MORAES MAZETTO; HOUNKPE, BIDOSSESSI WILFRIED; OLIVEIRA, JOSE DIOGO; DOS SANTOS, ANA PAULA ROSA; VAZ, CAMILA DE OLIVEIRA; DE PAULA, ERICH VINICIUS; ORSI, FERNANDA ANDRADE. Evaluation of a gene signature related to thrombotic manifestations in antiphospholipid syndrome. FRONTIERS IN MEDICINE, v. 10, p. 10-pg., . (16/14172-6, 19/20136-0, 21/07150-4)
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
JACINTHO, Bruna Cardoso. Evaluation of a gene signature related to thrombotic manifestation in antiphospholipid syndrome. 2023. Master's Dissertation - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.

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