Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project
Authors' conclusion
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.
Study context
- Population
- Familial hypercholesterolaemia (FH) patients diagnosed by Simon-Broome criteria, 100,000 Genomes Project536 FH patients
- Participants
- 443 vs 77,275
- Comparison
- FH cases vs 100KGP controls
- FH variant-negativen = 443
- Controlsn = 77,275reference
- Outcome
- Genetic determinants of FH (rare variants in FH genes, genome-wide association, LDL and Lp(a) PRS)
Methodological detailswhole genome sequencing analysis, case-control GWAS, 100 000 Genomes Project
- Whole genome sequencing analysis
- Case-control GWAS
- 100 000 Genomes Project
Main finding
As reported in the abstract
FH-causing variant found in FH cases
17.4%
Observational data: associations, not effects.
Further findings
High PRS among FH variant-negative cases
- High LDL PRS
- 36.4%
- High Lp(a) PRS
- 18.5%
- Both high LDL and Lp(a) PRS
- 7.0%
Original publication
Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project. Eur J Prev Cardiol. Published 12 November 2024. doi:10.
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