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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
Open accessAbstract
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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“With increasing knowledge about common polymorphisms and lipoproteins, the importance of a polygenic background to familial hyperlipidaemias is emphasized. 67,122”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [122]
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“With increasing knowledge about common polymorphisms and lipoproteins, the importance of a polygenic background to familial hyperlipidaemias is emphasized.67,122”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [122]
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Familial hypercholesterolemia: experience from France
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Atualização da Diretriz Brasileira de Hipercolesterolemia Familiar – 2021
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Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland
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Self-citationMolecular genetics of familial hypercholesterolemia in Israel–revisited
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Self-citationBlanco‐Vaca, F., Martín-Campos, J. M., Beteta-Vicente, Á., Canyelles, M., Martínez, S., Roig, R., Farré, N., Julve, J., & Tondo, M. (2019) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2019.01.036 · Cited by 22
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Self-citationPirazzi, C., Håkansson, L., Gustafsson, C., Ömerovic, E., Wiklund, O., & Mancina, R. M. (2019) · The Application of Clinical Genetics · doi:10.2147/tacg.s202942 · Cited by 21
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia
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Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia
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Phenotype vs. genotype in severe familial hypercholesterolemia: what matters most for the clinician?
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Molecular diagnosis of familial hypercholesterolaemia
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Improving the detection of familial hypercholesterolaemia
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Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia
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Self-citationBeyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia
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Self-citationGenotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns
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Self-citation
Metadata
- 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
- 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
- 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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