ArticleJournal of atherosclerosis and thrombosis2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Article in Journal of atherosclerosis and thrombosis, 2022. 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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21 citing papers in PubMed, 27 citations in OpenAlex.
- Chronic kidney disease is associated with worse survival after revascularization in subjects with genetically diagnosed familial hypercholesterolemia and significant coronary artery disease.American heart journal plus : cardiology research and practice · 2026Article
- Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.Scientific reports · 2026Article
- Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.Genes & genomics · 2026Article
- Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations.Genetics in medicine open · 2026Article
- Effects of theGenes · 2025Article
- Machine learning-based penetrance of genetic variants.Science (New York, N.Y.) · 2025Article
- Genetic Evidence on the Role of Blood Phytosterols in Frailty: A Mendelian Randomization Study.Food science & nutrition · 2025Article
- Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.PloS one · 2025Article
- Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.Blood advances · 2024Article
- EarlyZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Article
- Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.Clinical case reports · 2024Article
- Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.Frontiers in cardiovascular medicine · 2024Article
- Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.Journal of personalized medicine · 2023Article
- Differential Effects ofGenes · 2023Article
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- 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
- Pleiotropic Effects ofInternational journal of molecular sciences · 2022Article
- Common and RareInternational journal of molecular sciences · 2022Article
- Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?Journal of atherosclerosis and thrombosis · 2022Article
- Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.Frontiers in cardiovascular medicine · 2022Article
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3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimFamilial hypercholesterolemia (FH) is underdiagnosed in most countries. The genetic heterogeneity of FH requires an algorithm to efficiently integrate genetic testing into clinical practice. We aimed to report the spectrum of genetic mutations from patients with clinically diagnosed FH in Taiwan.
methodsPatients with LDL-C＞190 mg/dL or those with probable or definite FH according to the Taiwan Lipid Guidelines underwent genetic testing. Samples from 750 index patients from the Taiwan FH registry were screened using custom-made mass spectrometry, followed by targeted next generation sequencing (NGS) and/or multiplex ligation-dependent probe amplification (MLPA) if found negative.
resultsThe mean age of the patients was 52.4±15.1 years and 40.9% were male. Mutations were detected in 445 patients (59.3%). The distribution of mutations was as follows: LDLR (n=395), APOB (n=58), PCSK9 (n=0), and ABCG5 (n=3). The most common mutations were APOB c.10579 C＞T (p.R3527W) (12.6%), LDLR c.986 G＞A (p.C329Y) (11.5%), and LDLR c.1747 C＞T (p.H583Y) (10.8%). LDLR c.1187-10 G＞A (IVS 8-10) and APOB c.10580 G＞A (p.R3527Q) were detected using targeted NGS in Taiwan for the first time. Four novel mutations were identified, including LDLR c.1060＋2 T＞C (IVS 7＋2), LDLR c.1139 A＞C (p.E380A), LDLR c.1322 T＞C (p.A431T)＋c.1867 A＞G (p.I623V), and ABCG5 c.1337 G＞A (p.R447Q).
conclusionLDLR and APOB, but not PCSK9, mutations were the major genetic causes of FH. Four novel mutations in LDLR or ABCG5 were identified. This genetic screening method using mass spectrometry, targeted NGS, and MLPA analysis provided an efficient algorithm for genetic testing for clinically diagnosed FH in Taiwan.
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