SynthesisScientific reports2015
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Synthesis in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed.
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Genetic screening and response to drug therapy in familial hypercholesterolemia.Frontiers in molecular biosciences · 2026Article
- Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.Genes & genomics · 2025Article
- Quality of life and its contributors among patients with homozygous familial hypercholesterolemia in China.Frontiers in public health · 2025Article
- Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.Lipids in health and disease · 2024Article
- Article
- In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.Lipids in health and disease · 2023Article
- Identification of anJournal of geriatric cardiology : JGC · 2023Article
- 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
- Whole genome sequence analysis of blood lipid levels in >66,000 individuals.Nature communications · 2022Article
- Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization: A case report.World journal of clinical cases · 2022Article
- Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
- The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.Lipids in health and disease · 2021Article
- Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.Journal of human genetics · 2021Article
- Familial hypercholesterolemia in Southeast and East Asia.American journal of preventive cardiology · 2021Review
- Saudi Familial Hypercholesterolemia Patients With RareFrontiers in medicine · 2021Article
- Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia.Frontiers in genetics · 2021Article
- Signaling Pathways Potentially Responsible for Foam Cell Formation: Cholesterol Accumulation or Inflammatory Response-What is First?International journal of molecular sciences · 2020Article
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a common and serious dominant genetic disease, and its main pathogenic gene is the low-density lipoprotein receptor (LDLR) gene. This study aimed to perform a systematic review of LDLR mutations in China. Using PubMed, Embase, Wanfang (Chinese), the Chinese National Knowledge Infrastructure (Chinese), and the Chinese Biological and Medical database (Chinese), public data were limited to December 2014. The Medical Subject Headings terms and the following key words were used: "familial hypercholesterolemia", "Chinese", "China", "Hong Kong", and "Taiwan". A total of 74 studies including 295 probands with 131 LDLR mutations were identified. Most of the mutations were located in exon 4 of LDLR and approximately 60% of the mutations were missense mutations. Thirty new mutations that were not recorded in the LDLR databases were found. In silico analysis revealed that most of the mutations were pathogenic. The primary LDLR mutations were C308Y, H562Y, and A606T, and all of the mutations had functional significance. Prevalence data suggest that there are nearly 3.8 million FH patients in China, although reported numbers are much smaller, suggesting that FH is widely misunderstood. This systematic review provides information that is specific to China for inclusion in the international FH database.
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