Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia
This study shows that the novel ANGPTL3-p.H343R variant decreases ANGPTL3 secretion in vitro and can now be considered as a LOF variant. The lipid phenotype in this family results from a synergistic combination of the p.H343R ANGPTL3 variant and a polygenic HBL predisposition.
Authors
- C. Bertrand
- Mathilde Di Filippo (ORCID: https://orcid.org/0000-0001-6206-5908)
- Antoine Rimbert (ORCID: https://orcid.org/0000-0002-2971-4926)
- Joachim Alexandre (ORCID: https://orcid.org/0000-0002-9197-8404)
- Philippe Moulin
- F.W. Anthony (ORCID: https://orcid.org/0000-0002-3995-0500)
- Manon Levy (ORCID: https://orcid.org/0000-0002-1429-0745)
- Oriane Marmontel (ORCID: https://orcid.org/0000-0002-4916-6613)
- Séverine Nony
- Villar-Fimbel Sylvie
- Sybil Charrière
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Hospices Civils de Lyon (FR)
- Institut NeuroMyoGène (FR)
- Laboratoire de recherche en cardiovasculaire, métabolisme, diabétologie et nutrition (FR)
- Hôpital Louis Pradel (FR)
- Institut du Thorax (FR)
Publication Details
- Journal
- Atherosclerosis
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1016/j.atherosclerosis.2025.120569
- Primary Topic
- Lipid metabolism and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00