ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02778646 (Detection of Familial Hypercholesterolaemia Within United Kingdom Based National Disease Registries), which is not on this map. Cited by 19 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Detection of Familial Hypercholesterolaemia Within United Kingdom Based National Disease Registries: A National Institute for Cardiovascular Outcomes Research (NICOR) Study
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- The panorama of familial hypercholesterolemia in Latin America: a systematic review.Journal of lipid research · 2016Pooled it
- Role of PCSK9 in hallmarks of cancer: From mechanisms to interventions (Review).Oncology letters · 2026Review
- Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.European heart journal · 2026Article
- The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Current atherosclerosis reports · 2026Review
- Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.European journal of human genetics : EJHG · 2026Article
- A Novel Screening Approach for Familial Hypercholesterolemia: A Genetic Study on Patients Detected Using Preexisting Centralized Analytics.Journal of clinical medicine · 2025Article
- Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.Diagnostics (Basel, Switzerland) · 2023Article
- Identification and Functional Analysis ofInternational journal of molecular sciences · 2023Article
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects.Scientific reports · 2022Observational
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
- Characterization of Two Variants at Met 1 of the HumanBiomedicines · 2021Article
- Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.Journal of clinical medicine · 2021Article
- Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia.Scientific reports · 2021Article
- Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.Atherosclerosis · 2020Article
- GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.Nucleic acids research · 2017Article
- My Approach to the Patient With Familial Hypercholesterolemia.Mayo Clinic proceedings · 2016Review
- Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.Journal of lipid research · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFamilial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism caused by mutations in LDLR, APOB, and PCSK9. To fulfill the World Health Organization recommendation, the Portuguese FH Study was established. Here, we report the results of the past 15 years and present practical considerations concerning the genetic diagnosis of FH based on our experience.
methodsOur approach comprises a biochemical and molecular study and is divided into five phases, including the study of whole APOB and functional assays.
resultsA total of 2,122 individuals were enrolled. A putative pathogenic variant was identified in 660 heterozygous patients: LDLR (623), APOB (33), and PCSK9 (4); 8 patients presented with homozygous FH. A detection rate of 41.5% was observed. A stricter biochemical criteria was shown to improve patient identification. Overall, we have identified 3.4% and 80% of all heterozygous and homozygous patients, respectively, estimated to exist in our country.
conclusionThe Portuguese FH Study has established the genetic diagnosis of FH in Portugal and is committed to continue the investigation of the genetic complexity of FH. Genetic diagnosis of FH should be expanded to include the study of all coding/flanking regions of APOB and functional in vitro studies, to improve the correct patient identification, and to avoid misdiagnosis.Genet Med 18 4, 316-324.
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