Variants in <i>LPA</i> are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project
This genome-wide analysis of monogenic and polygenic FH causes confirms a complex and heterogeneous architecture of hypercholesterolaemia, with the LPA gene playing a significant role. Both Lp(a) and LDL-C should be measured for precision FH diagnosis. Specific therapies to lower Lp(a) should be targeted to those who will benefit most.
Authors
- Marta Futema (ORCID: https://orcid.org/0000-0002-2120-2088)
- Alan Pittman (ORCID: https://orcid.org/0000-0002-8112-2987)
- S.E. Humphries (ORCID: https://orcid.org/0000-0002-4153-8785)
- Antoine Rimbert (ORCID: https://orcid.org/0000-0002-2971-4926)
- Martin Bird (ORCID: https://orcid.org/0000-0001-6837-6934)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- St George's, University of London (GB)
- Institut du Thorax (FR)
- Genomics (United Kingdom) (GB)
- City St George's, University of London (GB)
- University College London (GB)
- Nantes Université (FR)
Publication Details
- Journal
- European Journal of Preventive Cardiology
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1093/eurjpc/zwae371
- Citations
- 6
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 3.44
Funders
- British Heart Foundation
- St. George's, University of London