Examples include familial hypercholesterolemia and α-1-antitrypsin deficiency, which are caused by mutations in the LDLR (Low-Density Lipoprotein Receptor) and SERPINA1 (Serpin Peptidase Inhibitor, Clade A [Alpha-1 Antiproteinase, Antitrypsin], Member 1) genes, respectively (Rashid et al., 2010, Cayo et al., 2012, Tafaleng et al., 2015, Choi et al., 2013). The gene discussed is SERPINA1; the disease is familial hypercholesterolemia.