Fig. 5: Influence of common and rare variants with hypercholesterolemia.
From: Whole genome sequence analysis of blood lipid levels in >66,000 individuals
In addition to monogenic contributions from rare variants in Mendelian hypercholesterolemia genes, multiple genome-wide significant LDL-C-associated common variants also yield a polygenic basis for hypercholesterolemia. In the present work, we now identify rare non-coding variants in proximity of Mendelian hypercholesterolemia genes, specifically LDLR and PCSK9, that also contribute to the genetic basis of hypercholesterolemia. Parts of the figure were generated using pictures from Servier Medical Art. Servier Medical Art by Servier is licensed under a Creative Commons Attribution 3.0 Unported License (https://creativecommons.org/licenses/by/3.0/). LDL-C low-density lipoprotein cholesterol.
