ArticleAtherosclerosis2013
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Article in Atherosclerosis, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 93 citations in OpenAlex.
- Statins for children with familial hypercholesterolemia.The Cochrane database of systematic reviews · 2019Pooled it
- Statins for children with familial hypercholesterolemia.The Cochrane database of systematic reviews · 2017Pooled it
- Decoding Primary Hyperlipoproteinemias: A Focus on the Pathogenesis and Diagnosis of Familial Hypercholesterolemia and Familial Combined Hyperlipidemia.Diagnostics (Basel, Switzerland) · 2026Review
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.Journal of medical genetics · 2026Article
- Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.European journal of human genetics : EJHG · 2026Article
- Biochemical characterisation of familial hypercholesterolemia: Associations between genetic and lipid profiles.Journal of medical biochemistry · 2026Article
- Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.Diagnostics (Basel, Switzerland) · 2025Article
- Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Annals of human genetics · 2025Review
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia.The Malaysian journal of medical sciences : MJMS · 2024Article
- Expanded genetic testing in familial hypercholesterolemia-A single center's experience.American journal of preventive cardiology · 2024Article
- Functional Analysis of 3'UTR Variants at theHuman mutation · 2024Article
- Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels.Frontiers in cardiovascular medicine · 2024Article
- Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.Health technology assessment (Winchester, England) · 2023Article
- Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Current atherosclerosis reports · 2023Review
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.Medicina (Kaunas, Lithuania) · 2022Review
- Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention.Metabolites · 2022Review
- Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.Journal of atherosclerosis and thrombosis · 2022Article
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Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
aimTo determine the frequency and spectrum of mutations causing Familial Hypercholesterolaemia (FH) in patients attending a single UK specialist hospital lipid clinic in Oxford and to identify characteristics contributing to a high mutation detection rate.
methods289 patients (272 probands) were screened sequentially over a 2-year period for mutations in LDLR, APOB and PCSK9 using standard molecular genetic techniques. The Simon Broome (SB) clinical diagnostic criteria were used to classify patients and a separate cohort of 409 FH patients was used for replication.
resultsAn FH-causing mutation was found in 101 unrelated patients (LDLR = 54 different mutations, APOB p.(Arg3527Gln) = 10, PCSK9 p.(Asp374Tyr) = 0). In the 60 SB Definite FH patients the mutation detection rate was 73% while in the 142 with Possible FH the rate was significantly lower (27%, p < 0.0001), but similar (14%, p = 0.06) to the 70 in whom there was insufficient data to make a clinical diagnosis. The mutation detection rate varied significantly (p = 9.83 × 10(-5)) by untreated total cholesterol (TC) levels (25% in those <8.1 mmol/l and 74% in those >10.0 mmol/l), and by triglyceride levels (20% in those >2.16 mmol/l and 60% in those <1.0 mmol/l (p = 0.0005)), with both effects confirmed in the replication sample (p for trend = 0.0001 and p = 1.8 × 10(-6) respectively). There was no difference in the specificity or sensitivity of the SB criteria versus the Dutch Lipid Clinic Network score in identifying mutation carriers (AROC respectively 0.73 and 0.72, p = 0.68).
conclusionsIn this genetically heterogeneous cohort of FH patients the mutation detection rate was significantly dependent on pre-treatment TC and triglyceride levels.
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