ArticleMolecular genetics & genomic medicine2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Case Report: Compound heterozygous familial hypercholesterolemia in a pediatric patient with multiple cutaneous xanthomas.Frontiers in pediatrics · 2026Article
- Article
- 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
- Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiology · 2023Article
- Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
- Familial hypercholesterolemia in Southeast and East Asia.American journal of preventive cardiology · 2021Review
- Management of Familial Hypercholesterolemia: Current Status and Future Perspectives.Journal of the Endocrine Society · 2021Review
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- SOAT1 methylation is associated with coronary heart disease.Lipids in health and disease · 2019Article
- Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is a monogenic disorder of lipoprotein metabolism leading to an increased risk of premature cardiovascular disease. Genetic testing for FH is not commonly used in Asian countries. We aimed to define the genetic spectrum of FH in Hong Kong and to test the feasibility of cascade genetic screening.
methodsNinety-six Chinese subjects with a clinical diagnosis of FH were recruited, and family-based cascade screening incorporating genetic testing results was performed.
resultsForty-two distinct mutations were identified in 67% of the index FH cases. The majority of causative mutations were in the LDLR gene. The three commonest mutations in the LDLR gene were NM_000527.4(LDLR): c.1241 T>G, NM_000527.4(LDLR): c.1474G>A, and NM_000527.4(LDLR): c. 682G>A, and nine novel variants were identified. The NM_000384.2(APOB): c.10579 C>T variant of the APOB gene was found in 5% of the index subjects. The presence of causative mutation significantly increased the odds of successful family recruitment for screening with an OR of 3.7 (95% CI: 1.53-9.11, p = 0.004).
conclusionApproximately two-third of the subjects in this clinically ascertained sample of patients with FH had a discrete genetic basis. Genetic identification improves the response rate and efficiency of family screening.
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