As such, here, we took a human genetics approach to address the following: (1) the extent to which APOB PTV carrier status is associated with serum lipid levels using 29 Japanese FHBL families; and (2) whether PTVs in the APOB gene are associated with lipid levels and CHD among ≈58 000 individuals from large case-control studies. Here, APOB is linked to coronary artery disorder.