Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels
Rare predicted damaging in silico variant in SCARB1, p.(Thr378Met), impairs SR-B1-mediated HDL uptake and associates with high HDL-C levels, highlighting SCARB1 as a candidate gene for genetic screening in dyslipidemic patients.
Authors
- Itziar Lamíquiz-Moneo (ORCID: https://orcid.org/0000-0002-9647-0108)
- César Martı́n (ORCID: https://orcid.org/0000-0002-4087-8729)
- Victoria Marco-Benedí (ORCID: https://orcid.org/0000-0002-7174-0423)
- Ana Cenarro (ORCID: https://orcid.org/0000-0002-9973-8982)
- Irene Gracia‐Rubio (ORCID: https://orcid.org/0000-0003-1028-8581)
- Ana M. Bea (ORCID: https://orcid.org/0000-0001-7762-2703)
- Fernando Civeira (ORCID: https://orcid.org/0000-0001-7043-0952)
- Asier Benito‐Vicente (ORCID: https://orcid.org/0000-0003-1653-1722)
- Endika Cabrera-Antón
Institutions
- University of the Basque Country (ES)
- Instituto de Investigación Sanitaria Aragón (ES)
- Instituto Aragonés de Ciencias de la Salud (ES)
Publication Details
- Journal
- Journal of clinical lipidology
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1016/j.jacl.2025.11.017
- Primary Topic
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministerio de Ciencia, Innovación y Universidades
- European Commission
- Eusko Jaurlaritza
- Ministerio de Economía y Competitividad
- Gobierno de Aragón
- Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares
- Instituto de Salud Carlos III
- European Regional Development Fund