LDLR and familial hypercholesterolemia: Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 and Nordestgaard BG et al. 34:3478–3490a, 2013) and leading to significant risk for heart disease.