ArticleLipids in health and disease2018
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.
Article in Lipids in health and disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 31 citations in OpenAlex.
- Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.Lipids in health and disease · 2019Trial
- Research advances in current drugs targeting hyperlipidemia (Review).Molecular medicine reports · 2025Review
- Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9.Journal of molecular modeling · 2025Article
- Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.Genes & genomics · 2025Article
- Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.Lipids in health and disease · 2024Article
- Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.Frontiers in cell and developmental biology · 2024Article
- Article
- 2023 China Guidelines for Lipid Management.Journal of geriatric cardiology : JGC · 2023Article
- 2023 Chinese guideline for lipid management.Frontiers in pharmacology · 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
- 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
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.Frontiers in genetics · 2020Review
- Genetics of Familial Hypercholesterolemia: New Insights.Frontiers in genetics · 2020Review
- A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH).Molecular diagnosis & therapy · 2019Article
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14 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundAlthough there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in regard of Chinese population are lacking. In this multi-center study, we aim to characterize the genetic spectrum of FH in Chinese population, and examine the genotype-phenotype correlations in detail.
methodsA total of 285 unrelated index cases from China with clinical FH were consecutively recruited. Next-generation sequencing and bioinformatics tools were used for mutation detection of LDLR, APOB and PCSK9 genes and genetic analysis.
resultsOverall, the detection rate is 51.9% (148/285) in the unrelated index cases with a total of 119 risk variants identified including 84 in the LDLR gene, 31 in APOB and 4 in PCSK9 gene. Twenty-eight variants were found in more than one individual and LDLR c.1448G > A (p. W483X) was most frequent one detected in 9 patients. Besides, we found 8 (7 LDLR and 1 APOB) novel variants referred as "pathogenic (or likely pathogenic) variants" according to in silico analysis. In the phenotype analysis, patients with LDLR null mutation had significantly higher LDL cholesterol level than LDLR defective and APOB/PCSK9 mutation carriers and those with no mutations (p < 0.001). Furthermore, 13 double heterozygotes, 16 compound heterozygotes and 5 true LDLR homozygotes were identified and the true LDLR homozygotes had the most severe phenotypes.
conclusionsThe present study confirmed the heterogeneity of FH genetics in the largest Chinese cohort, which could replenish the knowledge of mutation spectrum and contribute to early screening and disease management.
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