Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5615278 | Journal of Clinical Lipidology | 2016 | 32 Pages |
Abstract
In this and our previous study, we show that a causal mutation in LDLR, APOB, and PCSK9 can be identified in almost all children with a definite clinical diagnosis of FH. In the small group of patients without a mutation, we did not observe a higher GRS compared with unaffected relatives, which suggests that the FH phenotype is not caused by the aggregate of LDL-C increasing SNPs. Our data imply that application of the GRS is not instrumental as a diagnostic tool to individually define clinically diagnosed FH patients with polygenic hypercholesterolemia in our study population.
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Authors
Barbara MD, Michael W.T. PhD, Sigrid W. PhD, Joep C. PhD, Barbara A. PhD, Albert MD, PhD, John J.P. MD, PhD, G. Kees MD, PhD,