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Curso de Atualização em Medicina Cardiovascular 2019
Reunião Anual Conjunta dos Grupos de Estudo de Cirurgia Cardíaca, Doenças Valvulares e Ecocardiografia da SPC
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A. Basics
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01. History of Cardiology
02. Clinical Skills
03. Imaging
04. Arrhythmias, General
05. Atrial Fibrillation
06. Supraventricular Tachycardia (non-AF)
07. Syncope and Bradycardia
08. Ventricular Arrhythmias and Sudden Cardiac Death (SCD)
09. Device Therapy
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20. Congenital Heart Disease and Pediatric Cardiology
21. Pulmonary Circulation, Pulmonary Embolism, Right Heart Failure
22. Aortic Disease
23. Peripheral Vascular and Cerebrovascular Disease
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25. Interventional Cardiology
26. Cardiovascular Surgery
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28. Risk Factors and Prevention
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30. Cardiovascular Disease in Special Populations
31. Pharmacology and Pharmacotherapy
32. Cardiovascular Nursing
33. e-Cardiology / Digital Health
34. Public Health and Health Economics
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Transcription factor 21 and coronary artery disease in a Portuguese population
Session:
Posters 2 - Écran 5 - Prevenção
Speaker:
Andreia Pereira
Congress:
CPC 2019
Topic:
J. Preventive Cardiology
Theme:
28. Risk Factors and Prevention
Subtheme:
28.2 Risk Factors and Prevention – Cardiovascular Risk Assessment
Session Type:
Posters
FP Number:
---
Authors:
Andreia Pereira; Roberto Palma dos Reis; Joao Adriano Sousa; Flávio Mendonça; Joel Monteiro; Ana Célia Sousa; Mariana Rodrigues; Sónia Freitas; Sofia Borges; Ilídio Ornelas; Graça Guerra; A. Drumond de Freitas; Maria Isabel Mendonça
Abstract
<p>TCF21 is a member of the basic- helix-loop-helix (bHLH) transcriptor factor family, being critical for embryogenesis of the heart, kidney and spleen. TCF21 also regulates epicardium-derived cells differentiation into smooth muscle and fibroblast lineages.</p> <p><strong>Aim:</strong> Investigate the impact of TCF21 rs12190287 in the prediction and discrimination of CAD risk, individually or into a genetic risk score (GRS) formed by a set of 13 genetic variants.</p> <p><strong>Methods:</strong> We performed a case-control study with 3050 subjects (1619 coronary patients with 53.3 ±8 years; 78.9% male and 1431 controls with 52.8 ±8 years; 76.6% male) from GENEMACOR study. We investigated all traditional risk factors (TRF), as well as 13 genetic variants from GWAS, including TCF21 (rs12190287), ZC3HC1 (rs11556924), PSRC1/SORTI (rs599839), PHACTR1 (rs1332844), MIA3 (rs17465637), SMAD3 (rs17228212), ZNF259 (rs964184), ADAMTS7 (rs3825807), CDKN2B (rs4977574), 9p21.3 (rs1333049), KIF6 (rs20455), PCSK9 (rs2114580) and GJA4 (rs618675). A multiplicative genetic risk score with these 13 genetic variants (m13GRS), was calculated. Subsequently, two logistic regressions were performed; primarily with all the TRF and all the genes individually and the second with TRF and 13GRS.</p> <p><strong>Results: </strong>The first multivariate analysis shows that, besides the strong association of the TRF with CAD risk (with smoking status on the top of the list ,with an OR of 3.2; p<0.0001), TCF21 rs12190287 was the most significant variant from all the studied genetic set with a CAD risk of 1.5 (95%CI: 1.1-1.9; p=0.004), followed by the well-known genetic determinant CDKN2B rs4977574 (OR=1.4; 95%CI: 1.1-1.7; p<0.002) and ZC3HC1 rs11556924 (OR=1.3; 95%CI: 1.0-1.7; p<0.034). When GRS is included to the model, all the TRF remain in the equation by the same order, and the GRS persisted as an independent predictor for CAD risk (OR=1.7; 95%CI: 1.4-2.0; p<0.0001).</p> <p><strong>Conclusion:</strong> TCF21 rs12190287 is a risk factor for CAD in the Portuguese population, either individually or incorporated in a GRS. TCF21 risk is independent from TRF. In the future, TCF21 can provide a new clues to identify patients at high cardiovascular risk and become a potential target for gene therapy.</p>
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