Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

Familial hypercholesterolemia is a genetic disorder characterized by increased plasma concentrations of low density lipoprotein cholesterol and premature symptoms of coronary heart disease. Early identification of at-risk individuals allows changes in lifestyle including dietary intervention and drug treatment. In the January 2015 issue of Clinical Chemistry, a Special Issue devoted to Molecular Diagnostics, a group of researchers in a multi-center study describes a genetic risk score procedure that distinguishes familial hypercholesterolemia patients from healthy subjects.