Futema, M;
Shah, S;
Cooper, JA;
Li, K;
Whittall, RA;
Sharifi, M;
Goldberg, O;
... Humphries, SE; + view all
(2014)
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
, 61
(1)
pp. 231-238.
10.1373/clinchem.2014.231365.
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Abstract
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 improve the selection of SNPs and replicate the results in additional samples.
| Type: | Article |
|---|---|
| Title: | 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 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1373/clinchem.2014.231365 |
| Publisher version: | http://dx.doi.org/10.1373/clinchem.2014.231365 |
| Language: | English |
| Additional information: | © 2014 American Association for Clinical Chemistry |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1457176 |
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