S-EPMC10936812 - 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. - OmicsDI

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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 the polygenic nature of ASCVD, we aimed to assess the association of genomics with ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events at population level. CardioVascular Genes (CV-GENES) is a nationwide, multicenter, 1:1 case-control study of 3,734 patients in Brazil. Inclusion criterion for cases is the first occurrence of one of the ASCVD events. Individuals without known ASCVD will be eligible as controls. A core lab will perform the genetic analyses through low-pass whole genome sequencing and whole exome sequencing. In order to estimate the independent association between genetic polymorphisms and ASCVD, a polygenic risk score (PRS) will be built through a hybrid approach including effect size of each Single Nucleotide Polymorphism (SNP), number of effect alleles observed, sample ploidy, total number of SNPs included in the PRS, and number of non-missing SNPs in the sample. 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 (OR) and 95% confidence intervals (CI), and population attributable risks will be calculated. Clinical trial registration: This study is registered in clinicaltrials.gov (NCT05515653).

SUBMITTER: Alves de Oliveira H

PROVIDER: S-EPMC10936812 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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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.

Alves de Oliveira Haliton H de Menezes Neves Precil Diego Miranda PDM de Figueiredo Oliveira Gustavo Bernardes GB Moreira Frederico Rafael FR Pintão Maria Carolina Tostes MCT Rocha Viviane Zorzanelli VZ de Souza Rocha Cristiane C Katz Viviane Nakano VN Ferreira Elisa Napolitano EN Rojas-Málaga Diana D Viana Celso Ferraz CF da Silva Fabiula Fagundes FF Vidotti Juliete Jorge JJ Felicio Natalia Mariana NM de Araújo Vitor Leticia L Cesar Karina Gimenez KG Araújo da Silva Camila C de Oliveira Alves Lucas Bassolli LB Avezum Álvaro Á

PloS one 20240313 3

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 the polygenic nature of ASCVD, we aimed to assess the association of genomics with ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events at population level. CardioVascu ...[more]

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Project description:BackgroundIdentifying individuals at high risk of atherosclerotic cardiovascular disease (ASCVD) and implementing targeted prevention strategies might be the key to reducing the heavy disease burden in China. This study aimed to evaluate the prevalence, awareness, treatment, and risk factor control among individuals with high 10-year ASCVD risk in Guangzhou, China.MethodsThis study included 15,165 adults (aged 18 years and older) from 138 urban and rural communities in the 2018 survey of China Chronic Disease and Risk Factors Surveillance in Guangzhou. 10-year ASCVD risk was estimated using the risk assessment models recommended in the Chinese Guideline for the Prevention of Cardiovascular Disease 2017. The prevalence, awareness, treatment, and risk factor control of high ASCVD risk (defined as 10-year risk ≥10%) were examined.ResultsAmong the study population, the weighted proportion of men was 51.9%, and the mean age was 41.27 ± 0.52 years. The overall standardized prevalence of high 10-year ASCVD risk was 13.8% (95% CI, 12.4%-15.3%). The awareness rates for hypertension, diabetes, and hyperlipidemia were 48.0% (95% CI, 42.8%-53.4%), 48.3% (95% CI, 43.0%-53.7%), and 17.9% (95% CI, 14.4%-22.1%) among those with corresponding risk factors. The proportions of drug use in prevention were relatively low in primary prevention, with the rates of using BP-lowering, glucose-lowering, lipid-lowering, and aspirin being 37.7% (95% CI, 32.8%-42.8%), 41.4% (95% CI, 35.8%-47.3%), 6.7% (95% CI, 4.5%-10.0%), and 1.0% (95% CI, 0.6%-1.8%), respectively. As for risk factor control, only 29.3% (95% CI, 25.7%-33.2%), 16.8% (95% CI, 15.0%-18.6%), and 36.0% (95% CI, 31.1%-41.2%) of individuals with high ASCVD risk had ideal levels of blood pressure, LDL-C, and body weight.ConclusionThe estimated prevalence of 10-year high ASCVD risk was high in Guangzhou, while the rates of treatment and risk factor control in primary prevention were still far from optimal, especially for lipid management. These findings suggested that substantial improvement in ASCVD prevention is needed in this population.

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