Conference Poster
Genomic exploration of atherogenic lipoproteins in a Caribbean population: findings from the Genesis-Athero Study
Méndez Castillo, Máxima
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Carrión, Valery
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Cepeda-Marte, Jenny L.
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Lazo Zumaeta, Milton G.
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Guerra Méndez, Anamaylin
| Fecha de publicación | Revista | DOI |
27 de marzo de 2026 |
Resumen
Background:
Inherited dyslipidemias, including familial hypercholesterolemia (FH), contribute to premature atherosclerotic cardiovascular disease (ASCVD). The genetic landscape of these disorders remains unexplored in the Caribbean.
Methods:
A cross-sectional study was conducted on 17 adults who underwent genetic testing from a registry of 465 patients with suspected inherited dyslipidemia (2022-2025). Targeted sequencing analyzed lipid-related genes (LDLR, APOB, PCSK9, APOA5, APOE, GCKR, LRP6, GPD1, LIPC, GALNT2). Data on zygosity, inheritance, ClinVar classification, comorbidities, and lipid phenotypes were recorded.
Results:
Heterozygous variants with autosomal dominant inheritance predominated (100%). Pathogenic LDLR variants (c.590G>A, c.331C>T) confirmed classical FH in 11.8% of cases. The most frequent variants were APOA5 and APOE (35.3% each), associated with hypertension (HTN, 64.7%), diabetes/prediabetes (DM/Pre-DM, 35.3%), and coronary artery disease (CAD, 29.4%). A TRL-risk heatmap identified them as major contributors to residual atherogenic risk.