The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not representative of the global human population, making variant interpretation challenging, especially in underrepresented populations, such as the North African population. To address this, the Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project launched a study comprising 1000 individuals free of cardiovascular disease (CVD). Here, we present the first 391 Egyptian healthy volunteers recruited to establish a pilot phenotyped control cohort. All individuals underwent detailed clinical investigation, including cardiac magnetic resonance imaging (MRI), and were sequenced using a targeted panel of 174 genes with reported roles in inherited cardiac conditions. We identified 1262 variants in 27 cardiomyopathy genes of which 15.1% were not captured in current global and regional genetic reference databases (here: gnomAD and Great Middle Eastern Variome). The ECCO-GEN project aims at defining the genetic landscape of an understudied population and providing individual-level genetic and phenotypic data to support future studies in CVD and population genetics.
Comprehensive genomic databases offer unprecedented opportunities towards effective tailored strategies for the prevention and treatment of disease. The integration of genomic and phenotypic data from diverse ethnic populations is also key to advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases, however, are not representative of the global human population, making variant interpretation challenging and uncertain, especially in underrepresented populations such as the North African population. To address this, a study of 391 Egyptian healthy volunteers (EHVols) was initiated as a milestone towards establishing the 1000 Egyptian Genomes project.
Introduction: There are considerable ethnic variations in the incidence and severity of cardiovascular diseases (CVD). To date, there have been very few studies from Africa and the MENA region and none that have focused on CVD. Ballana Heart Study (BHS) is a prospective cohort study of Egyptian Nubian population who live in the Ballana village (29,000 inhabitants) in the south of Egypt. Aim: Defining the cardiovascular phenotype, genotype and risk factors combined with follow-up visits for 30 years. Methods: Participants ≥18 years old after consenting go through a series of stations. A fasting venous blood sample is collected for diagnostic, genetic, molecular biomarkers testing and biobanking. Followed by a detailed questionnaire on demographic characteristics, anthropometry, vital signs, CVD risk factors and family history. Detailed clinical phenotyping including ECG, and Echocardiography. Follow-up visits and/or phone interviews occur every 1-3 years depending on their severity risk for a period of 30 years. Participants with evidence of CVD are referred to the Aswan Heart Centre for management. Results: A random sample of 1,200 representative households was obtained from official government bills. To date, 549 households were analyzed. The preliminary findings in the first 2000 participants showed a mean age of 46 years (62% females). The rates of consanguinity between spouses and parents were 45% and 39% respectively. Seventy percent were either obese or overweight (BMI ≥30 kg/m 2 .), 65% had LDL ≥ 100 mg/dL and 37% reported a family history of CVD. Investigation showed diabetes (23%), hypertension (20%), ischemic heart diseases (3.5%), only 15 patients (0.8%) had echocardiographic evidence of rheumatic heart disease (RHD) as defined by the world heart federation criteria and 7 patients (0.4%) were diagnosed with adult congenital heart disease. Conclusion: Population-based studies and community engagement have become an increasingly prevalent means of improving health. BHS is among the first population studies in Egypt and the MENA region to focus on CVD . BHS provides a phenotypically well-characterized population, the preliminary results has shown a very high incidence of consanguinity, obesity, diabetes, dyslipidemia and hypertension. Future research integration of OMICs data and other determinants of health is essential to advancements in precision medicine, CVD understanding and prevention. It is anticipated that this ongoing study will yield valuable information for formulating healthcare policy.
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