Article
Children with hypercholesterolemia of unknown cause: Value of genetic risk scores.
Journal of clinical lipidology - 1 Jan 2000
Sjouke Barbara, Tanck Michael W T, Fouchier Sigrid W, Defesche Joep C, Hutten Barbara A, Wiegman Albert, Kastelein John J P, Hovingh G Kees
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is caused by mutations in LDLR, APOB, or PCSK9, and in a previous study, we identified a causative mutation in these FH genes in 95% (255 of 269) of children with the FH phenotype. It has been hypothesized that a polygenic form of hypercholesterolemia is present in FH patients in whom no mutation is identified in the 3 FH genes. OBJECTIVE: To address whether a...
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