Polymorphic sites that affect PCSK9 gene function are divided into gain-of-function (GOF) and loss-of-function (LOF), and GOF mutations can lead to increased PCSK9 activity, reduce the number of LDLR in the cell membrane, and lead to increased LDL-C levels in the plasma, while LOF mutations will play the opposite role and be associated with lower plasma levels of LDL-C and reduced risk of cardiovascular disease [24–26]. The gene discussed is LDLR; the disease is cardiovascular disorder.