Article
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.
Clinical chemistry - 1 Jan 2015
Futema Marta, Shah Sonia, Cooper Jackie A, Li KaWah, Whittall Ros A, Sharifi Mahtab, Goldberg Olivia, Drogari Euridiki, Mollaki Vasiliki, Wiegman Albert, Defesche Joep, D'Agostino Maria N, D'Angelo Antonietta, Rubba Paolo, Fortunato Giuliana, Waluś-Miarka Małgorzata, Hegele Robert A, Aderayo Bamimore Mary, Durst Ronen, Leitersdorf Eran, Mulder Monique T, Roeters van Lennep Jeanine E, Sijbrands Eric J G, Whittaker John C, Talmud Philippa J, Humphries Steve E
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in 1 of 3 genes. In the 60% of patients who are mutation negative, we have recently shown that the clinical phenotype can be associated with an accumulation of common small-effect LDL cholesterol (LDL-C)-raising alleles by use of a 12-single nucleotide polymorphism (12-SNP) score. The aims of the study were to...
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