Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia
Benign variants were identified in the proprotein convertase subtilisin/kexin type 9 gene, with no pathogenic alterations detected. Despite the significantly higher number of participants with a history of cardiovascular events in the polymorphism group, these data do not support a direct, causal association between these polymorphisms and an increased cardiovascular risk.
Authors
- Letícia Bizari (ORCID: https://orcid.org/0000-0001-7187-0706)
- Gustavo Santos Paiva Laender Moura (ORCID: https://orcid.org/0000-0003-1298-8557)
- Caroline Bertoncini‐Silva (ORCID: https://orcid.org/0000-0002-5925-5353)
- Raphael Del Roio Liberatore (ORCID: https://orcid.org/0000-0001-8893-2192)
- Renato Augusto Zorzo (ORCID: https://orcid.org/0000-0002-7704-3936)
- Wilson Salgado (ORCID: https://orcid.org/0000-0001-9796-0339)
- José Ernesto dos Santos (ORCID: https://orcid.org/0000-0003-3269-1582)
- André Luiz Dutra Costa (ORCID: https://orcid.org/0000-0003-4369-6995)
- Vívian Marques Miguel Suen (ORCID: https://orcid.org/0000-0001-6165-5746)
Institutions
- Universidade de São Paulo (BR)
Publication Details
- Journal
- Revista da Associação Médica Brasileira
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1590/1806-9282.20250873
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00