ArticleEuropean journal of human genetics : EJHG2018
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Experimental pasta as an innovative approach to cholesterol reduction in patients with metabolic syndrome, with and without major psychiatric disorders: A randomized controlled trial supported byEuropean psychiatry : the journal of the Association of European Psychiatrists · 2025Trial
- Unveiling Familial Hypercholesterolemia-Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy.International journal of molecular sciences · 2024Review
- Association ofSaudi journal of biological sciences · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.Metabolites · 2022Article
- Artificial Intelligence and Cardiovascular Genetics.Life (Basel, Switzerland) · 2022Review
- Age and sex specific effects of APOE genotypes on ischemic heart disease and its risk factors in the UK Biobank.Scientific reports · 2021Article
- Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2020Article
- Molecular diagnosis methods in familial hypercholesterolemia.Anatolian journal of cardiology · 2020Review
- Genetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor.Frontiers in genetics · 2020Review
- The complex molecular genetics of familial hypercholesterolaemia.Nature reviews. Cardiology · 2019Review
- Article
- Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia.Frontiers in cardiovascular medicine · 2019Review
- The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.Current atherosclerosis reports · 2018Review
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. Polygenic forms of hypercholesterolemia may be present among patients clinically diagnosed with FH but with no identified mutation (FH mutation-negative (FH/M-)). To address whether polygenic forms may explain phenocopies in FH families, we calculated a 6-single-nucleotide polymorphism (SNP) genetic risk score (GRS) in all members from five French FH families where a mutation was identified (FH/M+) as well as some phenocopies (FH/M-). In two families, three FH/M- patients present a high GRS suggesting a polygenic hypercholesterolemia for these phenocopies. However, a high GRS is also observed in nine FH/M+ patients and in four unaffected relatives from three families. These observations indicate that the GRS does not seem to be a good diagnostic tool at the individual level. Nevertheless, the GRS seems to be a contributor of the severity of hypercholesterolemia since patients who cumulate a mutation and a high GRS exhibit higher low-density lipoprotein cholesterol levels when compared to patients with only FH (p = 0.054) or only polygenic hypercholesterolemia (p = 0.0039). In conclusion, the GRS can be used as a marker of the severity of hypercholesterolemia but does not seem to be a reliable tool to distinguish phenocopies within FH families.
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