Unusual genetic variants associated with hypercholesterolemia in Argentina

Marked hypercholesterolemia, defined as low density lipoprotein cholesterol (LDL-C) levels  ≥ 190 mg/dL, may be due to LDLR, APOB, and PCSK9 variants. In a recent analysis, only 1.7% of cases had such variants. Our goal was to identify other potential genetic causes of hypercholesterolemia.

Source: Atherosclerosis - October 1, 2018 Category: Cardiology Authors: Pablo Corral, Andrew S. Geller, Eliana Y. Polisecki, Graciela I. Lopez, Virginia G. Ba ñares, Leonardo Cacciagiu, Gabriela Berg, Robert A. Hegele, Ernst J. Schaefer, Laura E. Schreier Source Type: research