A study in a French cohort, which included probands and families with hypercholesterolemia recruited through the French Research Network for ADH from several regions of France, showed that the LDLR gene is implicated in 73.9% of the cases, while mutations in APOB and PCSK9 are responsible of 6.6% and 0.7% of the cases respectively. The gene discussed is AVP; the disease is Hypercholesterolemia.