Exome sequencing identifies potential variants linked to cardiovascular disease in Caldas, Colombia: insights from the ORIGEN COLOMBIAN genome project

Abstract The ORIGEN Project identified, for the first time, variants potentially associated with cardiovascular disease (CVD) in individuals from the Caldas region of Colombia. These findings provide novel insights into the genetic architecture of CVD in an underrepresented population and contribute to closing the knowledge gap in Latin American genomics research. Peripheral blood samples were collected for DNA extraction and exome sequencing using the Oxford Nanopore® platform. Bioinformatics analysis was performed at the variables and their relationships were described. Statistical significance was demonstrated with a p-value less than 0.05. The study involved 250 individuals divided into three groups: individuals diagnosed with cardiovascular disease (CVD), older adults without a known CVD diagnosis, and a healthy control group. The most common diagnoses in the CVD group were hypertension (29%), acute myocardial infarction (27%), and heart failure (5%). Whole exome sequencing revealed six single nucleotide polymorphisms (SNPs) potentially associated with CVD in the genes HFE, PERM1, and FBN1. The number of pathogenic variants was significantly higher in the older adult group (60 variants), the CVD group (49 variants), and the control group (16 variants). The identification of pathogenic variants potentially associated with CVD and aging in our population opens new avenues for the advancement of precision medicine in the region and the country.