Genetics and Cardiovascular Disease in Brazil
A study examines genetics and lifestyle factors in heart disease risk.
― 5 min read
Table of Contents
Cardiovascular Disease (CVD) is the main cause of death around the world. One in three deaths is linked to this condition. It is essential to look at the Risk Factors that contribute to CVD to create effective strategies for prevention. Research shows that more than 70% of CVD cases can be traced back to a few common risk factors that can be changed.
CVD significantly affects low- and middle-income countries. In Brazil, for instance, CVD causes over 300,000 deaths each year, making it the leading cause of death there. When you also consider other chronic conditions like cancer and diabetes, non-communicable diseases account for about 70% of all deaths for both men and women.
Recent studies have pointed out that many cases of CVD can be linked to identifiable factors such as high blood pressure, low education levels, smoking, unhealthy diets, abdominal fat, lack of exercise, diabetes, and even air pollution. While many of these factors can be modified, Genetics also play a role in increasing CVD risk. New technologies in genetic testing have helped identify certain genes that can elevate this risk, but unlike lifestyle choices, genetics cannot be changed.
The Brazilian Population and Genetics
Brazil's ethnic diversity may influence the risk of various diseases, including CVD. Research has already shown that the genetic background can affect how people in Brazil respond to conditions like infections and autoimmune diseases, among others.
There is a need for thorough studies that can accurately represent the Brazilian population's various backgrounds and genetic factors when it comes to CVD. To tackle this challenge, a new study called CV-GENES has been set up. The aim is to look at how genetics influence the risk of CVD while also considering traditional risk factors that can be modified.
Study Design and Goals
The CV-GENES study will take place in 50 medical centers across Brazil. Researchers want to account for the differences in ethnicity and culture by including participants from all regions. The study will focus on people aged 18 and older who are hospitalized for their first case of acute heart attack, stroke, or similar vascular events.
The study aims to identify the relationship between genetics and the risk of atherosclerotic cardiovascular disease (ASCVD), particularly how these genetic factors might link to serious events like heart attacks or strokes on a wider scale.
How Participants Are Selected
Patients who come to the hospital with symptoms related to CVD will be evaluated. To be eligible, they must show clear signs of acute cardiovascular issues. The researchers will also look for patients seeking treatment for other medical issues, as well as healthy individuals from the same community, to form a control group.
Both groups will be balanced for sex and age, and anyone with a known history of cardiovascular disease will be excluded to ensure that the data collected is as accurate as possible.
Sample Size and Data Analysis
To understand the risk factors properly, researchers need a large number of participants. For this study, they aim to enroll around 1,867 cases and 1,867 controls. The relationship between various risk factors-both genetic and lifestyle-related-will be analyzed to see how they contribute to the risk of CVD.
In addition to lifestyle factors, the study will focus on genetic data by creating a Polygenic Risk Score, which will help assess how much these genetic components affect the overall risk of developing cardiovascular issues.
Collecting and Analyzing Data
Data from participants will be collected through specialized electronic forms. The information will include demographic details, medication history, and lab test results. This will also cover genetic evaluations to see how gene variants influence cardiovascular risk.
To analyze the data, the study will use various statistical methods. Initial analyses will look at how individual risk factors relate to CVD, and further analyses will refine this to determine which factors are the most significant.
Addressing Bias and Ensuring Quality
To maintain the integrity of the study, strict criteria will be used to select cases and controls. Each case will be verified by an oversight committee to double-check the data and ensure that it meets the study's standards. Regular monitoring will be done to ensure data quality, with all samples managed under controlled conditions.
Organization and Ethical Considerations
The Hospital Alemão Oswaldo Cruz will lead the national coordination of the study, ensuring high-quality data collection and monitoring. All genetic and biochemical analyses will be handled by a single laboratory to standardize the processes.
Ethical approval has been secured for the study, meaning it has been reviewed and cleared by various ethics committees. Participants will be asked to sign consent forms before taking part, and their data will be stored securely to protect their privacy.
Importance of the Study
This nationwide study aims to shed light on how genetic factors contribute to cardiovascular disease risk in Brazil's diverse population. With the knowledge gained from this research, it may be possible to identify patients who are more likely to develop CVD and take preventive measures tailored to their specific needs.
Understanding the interaction between genetics and lifestyle choices can help create more effective public health initiatives aimed at reducing the burden of cardiovascular disease in Brazil. By identifying individuals at higher risk due to their genetic background and modifiable factors, healthcare providers can intervene earlier, potentially saving lives and reducing healthcare costs.
Conclusion
The CV-GENES study represents a significant effort to understand cardiovascular disease better, particularly how different risk factors-both genetic and modifiable-interact in the Brazilian population. As the research progresses, it will pave the way for more targeted prevention strategies, ultimately aiming to reduce the impact of CVD on individuals and the broader community.
The findings from this study can inform public health policies and lead to improved health outcomes by addressing the unique needs of Brazil's diverse population. By focusing on both genetic influences and lifestyle choices, the study seeks to bring about meaningful changes in the fight against cardiovascular disease.
Title: Impact of Genetic Background as a Risk Factor for Atherosclerotic Cardiovascular Disease: A Protocol for a Nationwide Genetic Case-Control (CV-GENES) study in Brazil
Abstract: Atherosclerotic Cardiovascular Disease (ASCVD) represents the leading cause of death worldwide, and individual screening should be based on behavioral, metabolic, and genetic profile derived from data collected in large population-based studies. Due to a polygenic nature of ASCVD, we aimed to assess the association of genomics to ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events on a population level. CV-GENES is a multicenter, Brazilian nationwide, 1:1 case-control study of 3,734 patients. Inclusion criteria for cases are the first occurrence of one of the cardiovascular events. Individuals without known ASCVD, and age- and sex-matched will be eligible for the control group. A genetics core lab analysis will be performed through the association of low-pass whole genome sequencing and whole exome sequencing. A polygenic risk score will be built in a multiethnic population to estimate the association between genetic polymorphisms and risk of ASCVD. In addition, the presence of pathogenic or likely pathogenic variants will be screened in 8 genes (ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9) associated with atherosclerosis. Multiple logistic regression will be applied to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs), and population attributable risks will be calculated. This study is registered in clinicaltrials.gov (NCT05515653.)
Authors: Haliton Alves Oliveira Junior, A. J. Cordeiro Mattos, P. D. M. de Menezes Neves, F. R. Moreira, M. C. T. Pintao, V. Z. Rocha, C. S. Rocha, V. N. Katz, E. N. Ferreira, D. Rojas-Malaga, C. F. Viana, F. F. Silva, J. J. Vidotti, N. M. Felicio, L. A. Vitor, K. G. Cesar, C. A. Silva, G. B. de Figueiredo Oliveira, L. B. de Oliveira Alves, A. Avezum
Last Update: 2023-07-23 00:00:00
Language: English
Source URL: https://www.medrxiv.org/content/10.1101/2023.07.19.23292905
Source PDF: https://www.medrxiv.org/content/10.1101/2023.07.19.23292905.full.pdf
Licence: https://creativecommons.org/licenses/by/4.0/
Changes: This summary was created with assistance from AI and may have inaccuracies. For accurate information, please refer to the original source documents linked here.
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