Association of monogenic vs polygenic hypercholesterolemia with risk of atherosclerotic cardiovascular disease
JAMA Feb 19, 2020
Trinder M, et al. - This genetic-association, case-control, cohort study was performed to evaluate whether a genetic variant for hypercholesterolemia alters the risk of atherosclerotic cardiovascular disease (CVD) and to assess how this risk compares with that of nongenetic hypercholesterolemia. Researchers included a total of 48,741 individuals aged 40 to 69 years by the UK Biobank from across the United Kingdom between March 13, 2006, and October 1, 2010, and followed up until March 31, 2017. The research evaluated the correlation of genotype with the risk of coronary and carotid revascularization, myocardial infarction, ischemic stroke, and all-cause mortality among the overall study population and among participants with monogenic FH (n = 277), polygenic hypercholesterolemia (n = 2,379), or hypercholesterolemia with undetermined cause (n = 2,232) at comparable levels of LDL-C measured at study enrollment. The results of this study indicated that the genetic determinant of LDL-C levels may impose the additional risk of CVD among individuals with hypercholesterolemia.
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