Atherosclerotic cardiovascular disease, or atherosclerosis, is a condition characterized by the hardening and narrowing of arteries, putting blood flow at risk. Hypercholesterolemia is a condition of high cholesterol levels in the blood, which is associated with an increased risk of atherosclerosis. The objective of this study is to determine if genetic hypercholesterolemia can increase the risk of atherosclerosis.

This is a case-control, genetic-association, cohort study that included a total of 48,741 individuals aged 40-69 years with monogenic or polygenic hypercholesterolemia, identified by the genotyping array. The primary outcome of the study was the risk of carotid and coronary revascularization, ischemic stroke, myocardial infarction, and all-cause mortality.

Out of 48,741 participants, the monogenic FH variant of hypercholesterolemia was found in 277 (0.57%) individuals. The findings suggested that participants with the monogenic FH hypercholesterolemia were at a higher risk of atherosclerotic CVD than those without monogenic FH at age 55 years or younger. In comparison with the general population, individuals with both monogenic and polygenic hypercholesterolemia were at an increased risk of atherosclerotic CVD.

The research concluded that both monogenic and polygenic hypercholesterolemia was associated with a higher risk of atherosclerotic cardiovascular disease in middle-aged adults.