5 results on '"Reis RPD"'
Search Results
2. Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population.
- Author
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Mendonça MI, Henriques E, Borges S, Sousa AC, Pereira A, Santos M, Temtem M, Freitas S, Monteiro J, Sousa JA, Rodrigues R, Guerra G, and Reis RPD
- Abstract
The inclusion of a genetic risk score (GRS) can modify the risk prediction of coronary artery disease (CAD), providing an advantage over the use of traditional models. The predictive value of the genetic information on the recurrence of major adverse cardiovascular events (MACE) remains controversial. A total of 33 genetic variants previously associated with CAD were genotyped in 1587 CAD patients from the GENEMACOR study. Of these, 18 variants presented an hazard ratio >1, so they were selected to construct a weighted GRS (wGRS). MACE discrimination and reclassification were evaluated by C-Statistic, Net Reclassification Index and Integrated Discrimination Improvement methodologies. After the addition of wGRS to traditional predictors, the C-index increased from 0.566 to 0.572 (p=0.0003). Subsequently, adding wGRS to traditional plus clinical risk factors, this model slightly improved from 0.620 to 0.622 but with statistical significance (p=0.004). NRI showed that 17.9% of the cohort was better reclassified when the primary model was associated with wGRS. The Kaplan-Meier estimator showed that, at 15-year follow-up, the group with a higher number of risk alleles had a significantly higher MACE occurrence (p=0.011). In CAD patients, wGRS improved MACE risk prediction, discrimination and reclassification over the conventional factors, providing better cost-effective therapeutic strategies.
- Published
- 2021
- Full Text
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3. Additional value of a combined genetic risk score to standard cardiovascular stratification.
- Author
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Pereira A, Mendonca MI, Borges S, Sousa AC, Freitas S, Henriques E, Rodrigues M, Freitas AI, Guerra G, Freitas C, Pereira D, Brehm A, and Reis RPD
- Abstract
The utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic variants associated to CAD. Logistic Regression and Area Under the Curve (AUC) were determined first, using the TRF for each FRS subgroup, and secondly, adding GRS. Different models (TRF, TRF+GRS) were used to classify the subjects into risk categories for the FRS 10-year predicted risk. The improvement offered by GRS was expressed as Net Reclassification Index and Integrated Discrimination Improvement. Multivariate analysis showed that GRS was an independent predictor for CAD (OR = 1.87; p<0.0001). Diabetes, arterial hypertension, dyslipidemia and smoking status were also independent CAD predictors (p<0.05). GRS added predictive value to TRF across all risk subgroups. NRI showed a significant improvement in all categories. In conclusion, GRS provided a better incremental value in intermediate subgroup. In this subgroup, inclusion of genotyping may be considered to better stratify cardiovascular risk.
- Published
- 2018
- Full Text
- View/download PDF
4. Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants.
- Author
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Pereira A, Mendonça MI, Borges S, Freitas S, Henriques E, Rodrigues M, Freitas AI, Sousa AC, Brehm A, and Reis RPD
- Subjects
- Case-Control Studies, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Portugal, Prognosis, ROC Curve, Risk Assessment, Risk Factors, Coronary Artery Disease genetics, Genetic Predisposition to Disease genetics
- Abstract
Background: Genetic risk score can quantify individual's predisposition to coronary artery disease; however, its usefulness as an independent risk predictor remains inconclusive., Objective: To evaluate the incremental predictive value of a genetic risk score to traditional risk factors associated with coronary disease., Methods: Thirty-three genetic variants previously associated with coronary disease were analyzed in a case-control population with 2,888 individuals. A multiplicative genetic risk score was calculated and then divided into quartiles, with the 1st quartile as the reference class. Coronary risk was determined by logistic regression analysis. Then, a second logistic regression was performed with traditional risk factors and the last quartile of the genetic risk score. Based on this model, two ROC curves were constructed with and without the genetic score and compared by the Delong test. Statistical significance was considered when p values were less than 0.05., Results: The last quartile of the multiplicative genetic risk score revealed a significant increase in coronary artery disease risk (OR = 2.588; 95% CI: 2.090-3.204; p < 0.0001). The ROC curve based on traditional risk factors estimated an AUC of 0.72, which increased to 0.74 when the genetic risk score was added, revealing a better fit of the model (p < 0.0001)., Conclusions: In conclusion, a multilocus genetic risk score was associated with an increased risk for coronary disease in our population. The usual model of traditional risk factors can be improved by incorporating genetic data.
- Published
- 2018
- Full Text
- View/download PDF
5. The genetic variant C825T of the beta 3 subunit of G protein is associated with hypertension in a Portuguese population.
- Author
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Sousa AC, Reis RPD, Pereira A, Borges S, Gouveia S, Spínola A, Freitas AI, Guerra G, Góis T, Rodrigues M, Henriques E, Ornelas I, Freitas C, Pereira D, Brehm A, and Mendonça MI
- Subjects
- Case-Control Studies, Female, Humans, Male, Middle Aged, Portugal, Genetic Variation, Heterotrimeric GTP-Binding Proteins genetics, Hypertension genetics, Polymorphism, Genetic
- Abstract
Introduction: Hypertension is an important public health problem, affecting about 25% of the adult population worldwide.1 Genetic and environmental factors contribute to its pathogenesis. The T allele of the C825T polymorphism of the beta 3 subunit of G protein (rs5443) leads to the production of a truncated variant that enhances intracellular signaling and may interfere with the regulation of blood pressure. This genetic variant has been described as a risk factor for hypertension, although study results are controversial., Objective: The objective of this study was to analyze the association of the C825T polymorphism of the GNB3 gene with the occurrence of hypertension in a Portuguese population from the Madeira archipelago., Methods: A case-control study was performed with 1641 Caucasian individuals (mean age 50.6±8.1 years), 848 with hypertension and 793 controls. Blood was collected from all participants for biochemical and genetic analysis, including genotyping of the C825T polymorphism. Logistic regression analysis was performed to determine which variables were significantly associated with the onset of hypertension. Statistical analyses were performed using IBM SPSS version 19.0 and p-values <0.05 were considered statistically significant., Results: In our study, there was a significant association between the C825T polymorphism of the GNB3 gene and the occurrence of hypertension (odds ratio 1.275; 95% confidence interval 1.042-1.559; p=0.018) in the dominant model, after multivariate analysis., Conclusion: We conclude that the C825T polymorphism of the beta 3 subunit of G protein is significantly and independently associated with the occurrence of hypertension in the study population., (Copyright © 2018. Publicado por Elsevier España, S.L.U.)
- Published
- 2018
- Full Text
- View/download PDF
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