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Is BUD13-ZNF259 gene variant a risk factor for Coronary Portuguese population?
Session:
Painel 12 - Prevenção / Reabilitação Cardíaca 1
Speaker:
Joel Monteiro
Congress:
CPC 2020
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:
Joel Ponte Monteiro; Maria Isabel Mendonça; Andreia Pereira; Joao Adriano Sousa; Margarida Temtem; Marina Santos; Flávio Mendonça; Ana Célia Sousa; Eva Henriques; Sónia Freitas; Ilídio Ornelas; Graça Guerra; A. Drumond de Freitas; Roberto Palma dos Reis
Abstract
<p>BUD13-ZNF259 is located on 11q23.3 and encodes Zinc finger protein (ZPR1), which is a cytoplasmic zinc finger protein that interacts with tyrosine kinase receptors. ZNF259 rs964184 variant has been associated with increased serum concentrations of triglycerides (TG) and LDL-C, augmenting the vulnerability of coronary artery endothelial cells (CAEC) to both oxidative stress and inflammatory response after damage.</p> <p><strong>Aim:</strong> Study the association of the BUD13-ZNF259 rs964184 C>G variant with TG levels and HDL-C and evaluate CAD risk in GENEMACOR (Portuguese population).</p> <p><strong>Methods:</strong> 3120 patients, 1687 coronary patients and 1433 controls were selected from GENEMACOR study. Genotyping of BUD13-ZNF259 rs964184 was performed by TaqMan allelic discrimination assay. Two separates pairwise comparisons assuming a specific underlying genetic model (recessive, dominant, additive and multiplicative) were applied and, then, the higher OR from these models was selected. Gene and biochemical variables (TG and HDL-C) were compared by Spearman correlation and Student´s t-test. χ<sup>2</sup> test was used to confirm CAD association.</p> <p><strong>Results:</strong> As increases the risk allele number, also increases the TG levels (positive correlation). As expected, the opposite occurred with HDL-C levels (negative correlation). These correlations were statistically significant (p<0.0001). Mean TG was higher in the risk genotype (CG + GG) when compared to the wild-type (CC) and the opposite occurred for HDL-C (p<0.0001). χ<sup>2</sup> test showed that this dominant model and the other genetic models of this variant, did not reached CAD significance.</p> <p><strong>Conclusion:</strong> Our study demonstrated that rs964184 genotype correlates positively with TG levels and negatively with HDL-C. Although high TG levels increase the vulnerability of CAEC to both oxidative stress and inflammatory response after damaging, probably the relative small size of our sample, did not display evidence of this genetic effect.</p>
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