{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T06:10:31Z","timestamp":1778479831450,"version":"3.51.4"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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\u00ae 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.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf201","type":"journal-article","created":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T12:40:04Z","timestamp":1766839204000},"source":"Crossref","is-referenced-by-count":0,"title":["Exome sequencing identifies potential variants linked to cardiovascular disease in Caldas, Colombia: insights from the ORIGEN COLOMBIAN genome project"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0909-3528","authenticated-orcid":false,"given":"Olga A","family":"Nieto-C\u00e1rdenas","sequence":"first","affiliation":[{"name":"Centro de Bioinform\u00e1tica y Biolog\u00eda Computacional de Colombia - BIOS, Calle 61b # 15A-02, Ecoparque los Yarumos , Manizales, Caldas 170003 ,","place":["Colombia"]},{"name":"Programa de Medicina, Universidad del Quind\u00edo , Carrera 15, Calle 12 Norte, Armenia, Quind\u00edo 630004 ,","place":["Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6837-6109","authenticated-orcid":false,"given":"Mariana S","family":"Candamil-Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Centro de Bioinform\u00e1tica y Biolog\u00eda Computacional de Colombia - BIOS, Calle 61b # 15A-02, Ecoparque los Yarumos , Manizales, Caldas 170003 ,","place":["Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1424-2372","authenticated-orcid":false,"given":"Ana L","family":"Uribe-Hurtado","sequence":"additional","affiliation":[{"name":"Centro de Bioinform\u00e1tica y Biolog\u00eda Computacional de Colombia - BIOS, Calle 61b # 15A-02, Ecoparque los Yarumos , Manizales, Caldas 170003 ,","place":["Colombia"]},{"name":"Departamento de Inform\u00e1tica y Computaci\u00f3n, Universidad Nacional de Colombia , La Nubia Campus, km 7 v\u00eda al Magdalena, Manizales, Caldas 170006 ,","place":["Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2622-2130","authenticated-orcid":false,"given":"Edwin D","family":"Morales-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Centro de Bioinform\u00e1tica y Biolog\u00eda Computacional de Colombia - BIOS, Calle 61b # 15A-02, Ecoparque los Yarumos , Manizales, Caldas 170003 ,","place":["Colombia"]},{"name":"Departamento de Qu\u00edmica, Universidad de Caldas , Sede principal, Calle 65 # 26-10, Manizales, Caldas 170004 ,","place":["Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3758-7525","authenticated-orcid":false,"given":"Marcela","family":"Orjuela-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Centro de Bioinform\u00e1tica y Biolog\u00eda Computacional de Colombia - BIOS, Calle 61b # 15A-02, Ecoparque los 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