Cited by 213Lipoproteins and Cardiovascular HealthGenetic Associations and EpidemiologyGenomics and Rare Diseases

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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

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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·2015·Clinical Chemistry

DOI 10.1373/clinchem.2014.231365PMC PMC4892342

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Abstract

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 improve the selection of SNPs and replicate the results in additional samples. METHODS: We used ROC curves to determine the optimum number of LDL-C SNPs. For replication analysis, we genotyped patients with a clinical diagnosis of FH from 6 countries for 6 LDL-C-associated alleles. We compared the weighted SNP score among patients with no confirmed mutation (FH/M–), those with a mutation (FH/M+), and controls from a UK population sample (WHII). RESULTS: Increasing the number of SNPs to 33 did not improve the ability of the score to discriminate between FH/M– and controls, whereas sequential removal of SNPs with smaller effects/lower frequency showed that a weighted score of 6 SNPs performed as well as the 12-SNP score. Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M– cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10−16). Modeling in individuals with a 6-SNP score in the top three-fourths of the score distribution indicated a >95% likelihood of a polygenic explanation of their increased LDL-C. CONCLUSIONS: A 6-SNP LDL-C score consistently distinguishes FH/M– patients from healthy individuals. The hypercholesterolemia in 88% of mutation-negative patients is likely to have a polygenic basis.

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Authors: Futema, M., Shah, S., Cooper, J. A., Li, K., Whittall, R. A., Sharifi, M., Goldberg, O., Drogari, E., Mollaki, V., Wiegman, A., Defesche, J., D'Agostino, M. N., D'Angelo, A., Rubba, P., Fortunato, G., Waluś-Miarka, M., Hegele, R. A., Aderayo Bamimore, M., Durst, R., Leitersdorf, E., Mulder, M. T., Roeters van Lennep, J. E., Sijbrands, E. J. G., Whittaker, J. C., Talmud, P. J., & Humphries, S. E.
Affiliations: British Heart Foundation (GB)
The University of Queensland (AU)
National and Kapodistrian University of Athens (GR)
Department of Pediatrics and
Amsterdam UMC Location University of Amsterdam (NL)
CEINGE S.C.a r.l. Advanced Biotechnology, Naples, Italy
Federico II University Hospital (IT)
CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
Department of Metabolic Diseases and Department of Medical Didactics, Jagiellonian University Medical College, Krakow, Poland
Robarts Research Institute (CA)
Robarts Research Institute, London, Ontario, Canada
Hadassah Medical Center (IL)
Erasmus MC (NL)
Departments of Cardiology and Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
GlaxoSmithKline (United Kingdom) (GB)
Corresponding author: Humphries, Steve E
ORCID: Futema, Marta
Shah, Sonia
Cooper, Jackie A
Drogari, Euridiki
Mollaki, Vasiliki
Wiegman, Albert
Defesche, Joep
Fortunato, Giuliana
Hegele, Robert A
Durst, Ronen
Leitersdorf, Eran
Mulder, Monique T
Sijbrands, Eric J G
Whittaker, John C
Talmud, Philippa J
Humphries, Steve E
Venue: Clinical Chemistry
Publisher: Oxford University Press (OUP)
Published: 2015-01-01
Volume: 61
Issue: 1
Pages: 231-238
ISSN: 0009-9147 (ISSN-L)
1530-8561
DOI: 10.1373/clinchem.2014.231365
PMC: PMC4892342
OpenAlex: W2109770394
Cited by: 213
References: 32
Citations by year: 2026: 9 · 2025: 16 · 2024: 11 · 2023: 13 · 2022: 21 · 2021: 15 · 2020: 13 · 2019: 27 · 2018: 24 · 2017: 26 · 2016: 24 · 2015: 13
FWCI: 21.14
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
Locations: Clinical Chemistry (publishedVersion)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion, other-oa)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
PubMed Central (acceptedVersion)
Homo Politicus (Academy of Humanities and Economics in Lodz) (submittedVersion, cc-by-nc-nd)
Jagiellonian University Repository (Jagiellonian University) (submittedVersion, cc-by-nc-nd)
Data Archiving and Networked Services (DANS) (submittedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
UCL Discovery (University College London) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion)
Funders: Medical Research Council
British Heart Foundation
Health and Safety Executive
Department of Health Research
National Heart, Lung, and Blood Institute (HL36310)
National Institute on Aging (AG13196)
Agency for Health Care Policy and Research (HS06516)
British Heart Foundation BHF (PG08/008)
National Institute for Health Research
University College London
Athens University of Economics and Business
Netherlands Heart Foundation (2006B190)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: familial hypercholesterolemia, LDL cholesterol, polygenic risk score, single nucleotide polymorphisms, polygenic hypercholesterolemia, LDL receptor, apolipoprotein B, ABCG5/8, apolipoprotein E, CELSR2, genetic risk prediction, replication
MeSH terms: Proprotein Convertase 9, Adolescent, Adult, Alleles, Apolipoproteins B, Canada, Child, Europe, Female, Humans, Hyperlipoproteinemia Type II, Israel, Cholesterol, LDL, Male, Middle Aged, Mutation, Receptors, LDL, Risk Factors, ROC Curve, Serine Endopeptidases, Cohort Studies, Case-Control Studies, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Proprotein Convertases, Young Adult

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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

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