ArticlePloS one2015
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical and Molecular Genetic Risk Factors for Severe Familial Hypercholesterolemia.Journal of lipid and atherosclerosis · 2026Article
- Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.International journal of molecular sciences · 2024Article
- Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia.The Malaysian journal of medical sciences : MJMS · 2024Article
- Whole exome sequencing and proteomics-based investigation of the pathogenesis of coronary artery disease with diffuse long lesion.Journal of cardiothoracic surgery · 2024Article
- Review
- Barriers and shortcomings in access to cardiovascular management and prevention for familial hypercholesterolemia during the COVID-19 pandemic.Clinical cardiology · 2023Review
- Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Molecular genetics & genomic medicine · 2022Article
- 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
- 2022 Consensus statement on the management of familial hypercholesterolemia in Korea.The Korean journal of internal medicine · 2022Review
- 2022 Consensus Statement on the Management of Familial Hypercholesterolemia in Korea.Journal of lipid and atherosclerosis · 2022Review
- Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.Journal of atherosclerosis and thrombosis · 2022Observational
- Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.Journal of atherosclerosis and thrombosis · 2022Article
- Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?Journal of atherosclerosis and thrombosis · 2022Article
- Role of Genetics in Preventive Cardiology: Focused on Dyslipidemia.Korean circulation journal · 2021Review
- Familial hypercholesterolemia in Southeast and East Asia.American journal of preventive cardiology · 2021Review
- GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.Scientific reports · 2020Article
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.Chonnam medical journal · 2018Article
- Target achievement with maximal statin-based lipid-lowering therapy in Korean patients with familial hypercholesterolemia: A study supported by the Korean Society of Lipid and Atherosclerosis.Clinical cardiology · 2017Article
- A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole-exome sequencing (WES) analysis, we confirmed that the 3 known FH-related genes accounted for genetic causes in 23 patients (33.3%). A substantial portion of the mutations (19 of 23 patients, 82.6%) resulted from 17 mutations and 2 copy number deletions in LDLR gene. Two mutations each in the APOB and PCSK9 genes were verified. Of these anomalies, two frameshift deletions in LDLR and one mutation in PCSK9 were identified as novel causative mutations. In particular, one novel mutation and copy number deletion were validated by co-segregation in their relatives. This study confirmed the utility of genetic diagnosis of FH through WES.
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