Key result
In patients with extreme HDL-C, rare large-effect variants were found in 18.7% and 10.9% of low- and high-HDL-C cases, while extreme polygenic scores accounted for an additional 12.8% and 19.3%.
Why the study?
What is the contribution of rare large-effect and common small-effect genetic variants to extreme HDL-C concentrations?
Cohort (n=3,049)
Yes
What is the contribution of rare large-effect and common small-effect genetic variants to extreme HDL-C concentrations?
Extreme HDL-C concentrations frequently have a polygenic basis, driven by both rare large-effect and common small-effect variants.
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Extreme HDL-C may warrant selective genetic assessment; leaves open whether polygenic scores improve risk stratification or outcomes.
Dron et al. (2017) conducted a cohort in Extreme HDL-C concentrations (n=3,049). Rare large-effect and common small-effect genetic variants was evaluated on Presence of rare heterozygous large-effect variants and extreme polygenic trait scores. In patients with extreme HDL-C, rare large-effect variants were found in 18.7% and 10.9% of low- and high-HDL-C cases, while extreme polygenic scores accounted for an additional 12.8% and 19.3%.
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