Genetic Diagnosis of Familial Hypercholesterolemia in Asia

Huang, Chin‐Chou; Charng, Min‐Ji

doi:10.3389/fgene.2020.00833

Cited by 14 publications

(14 citation statements)

References 58 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…FH includes homozygous and heterozygous types that have different symptoms, risks, and treatments. The incidence of FH is approximately 1 in 200–500 individuals and confers a significant risk for premature cardiovascular disease (CVD) [ 3 ]. Study has reported that the risk of premature CHD is elevated approximately 20-fold in young untreated heterozygous FH men and that homozygous FH patients typically develop CHD by the second decade of life [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

[Retracted] A Systematic Review and Meta‐Analysis of Therapeutic Efficacy and Safety of Alirocumab and Evolocumab on Familial Hypercholesterolemia

Zhu

Zeng

et al. 2021

BioMed Research International

View full text Add to dashboard Cite

Objectives. The aim of this study was to provide the first study to systematically analyze the efficacy and safety of PCSK9-mAbs in the treatment of familial hypercholesterolemia (FH). Methods. A computer was used to search the electronic Cochrane Library, PubMed/MEDLINE, and Embase databases for clinical trials using the following search terms: “AMG 145”, “evolocumab”, “SAR236553/REGN727”, “alirocumab”, “RG7652”, “LY3015014”, “RN316/bococizumab”, “PCSK9”, and “familial hypercholesterolemia” up to November 2020. Study quality was assessed with the Cochrane Collaboration’s tool, and publication bias was evaluated by a contour-enhanced funnel plot and the Harbord modification of the Egger test. After obtaining the data, a meta-analysis was performed using R software, version 4.0.3. Results. A meta-analysis was performed on 7 clinical trials (926 total patients). The results showed that PCSK9-mAbs reduced the LDL-C level by the greatest margin, WMD −49.14%, 95% CI: −55.81 to −42.47%, on FH versus control groups. PCSK9-mAbs also significantly reduced lipoprotein (a) (Lp (a)), total cholesterol (TC), triglycerides (TG), apolipoprotein-B (Apo-B), and non-high-density lipoprotein cholesterol (non-HDL-C) levels and increased HDL-C and apolipoprotein-A1 (Apo-A1) levels of beneficial lipoproteins. Moreover, no significant difference was found between PCSK9-mAbs treatment and placebo in common adverse events, serious events, and laboratory adverse events. Conclusion. PCSK9-mAbs significantly decreased LDL-C and other lipid levels with satisfactory safety and tolerability in FH treatment.

show abstract

Section: Introductionmentioning

confidence: 99%

[Retracted] A Systematic Review and Meta‐Analysis of Therapeutic Efficacy and Safety of Alirocumab and Evolocumab on Familial Hypercholesterolemia

Zhu

Zeng

et al. 2021

BioMed Research International

View full text Add to dashboard Cite

show abstract

“…DNA was isolated from 10 mL of venous blood recently been reported in about 1% of FH cases in Caucasians 4) and 8% in Japanese 5) , but has not been reported in Taiwanese patients 6) . Identification of patients with FH can be achieved by clinical diagnosis, i.e., by examination of personal and family history.…”

Section: Dna Extractionmentioning

confidence: 99%

“…The criteria for the clinical diagnosis of FH have been established and reported by the 2017 Taiwan Lipid Guidelines, a modification of the Dutch Lipid Clinic Network Score (DLCNS) for FH in Taiwan 7) . The diagnosis of FH is dependent on the total scores and can be definite (when the score is more than 8), probable (6)(7)(8), or possible (3)(4)(5).…”

Section: Dna Extractionmentioning

confidence: 99%

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia

Huang

Niu

Charng

2022

JAT

Self Cite

View full text Add to dashboard Cite

The official journal of the Japan Atherosclerosis Society and the Asian Pacific Society of Atherosclerosis and Vascular Diseases Original Article Aim: Familial 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.Methods: Patients 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. Results: The 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). Conclusion:LDLR 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.most commonly mutated is the gene coding for lowdensity lipoprotein receptor (LDLR), resulting in defective synthesis, assembly, transport, and recycling of the LDLR. Mutations in apolipoprotein B (APOB), encoding the ligand of the LDLR, cause a phenotypically identical condition 3) . Mutations in a third gene, Proprotein Convertase Subtilisin Kexin type 9 (PCSK9), which degrades the LDLR, haveCopyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

show abstract

“…APOC1 is a member of the apolipoprotein family that ACTS not only to transport lipids and stabilize the lipoprotein structure but also to regulate pathological processes including diabetes, Alzheimer's and inflammation. [11][12][13][14] In recent years, some studies have found that ApoA1, 15,16 ApoB, [17][18][19] ApoE 20,21 and other apolipoproteins 22 are abnormally expressed in tumors and are related to the prognosis of patients. Therefore, the role of apolipoprotein family in the occurrence and development of tumors has attracted more attention.…”

Section: Introductionmentioning

confidence: 99%

<p>Apolipoprotein C1 (APOC1): A Novel Diagnostic and Prognostic Biomarker for Cervical Cancer</p>

Shi¹,

Wang²,

Dai³

et al. 2020

OTT

View full text Add to dashboard Cite

Background Previous reports showed that APOC1 was associated with several cancers but the function of APOC1 in cervical cancer was unknown. This study aimed to investigate the clinical effect and function of APOC1 in cervical cancer. Materials and Methods In this study, the relative expression of APOC1 in cervical cancer was detected by RT-qPCR. In order to determine the cell proliferation and migration and invading ability and apoptosis more accurately, we used CCK8 assay, Edu assay, wound healing assay, migration and invasion assay, flow cytometry assay, co-immunoprecipitation, proteomics and Western blot by silencing and overexpressing APOC1 , respectively. The role of APOC1 on tumor progression was explored in vitro and vivo. Results The relative expression of APOC1 in cervical cancer tissues was up-regulated (P<0.05). In cervical cancer cell lines, silencing of APOC1 restrained cell progression and EMT, while over-expression of APOC1 accelerated cell progression and EMT in vivo and vitro (P<0.05). Conclusion APOC1 acts as an oncogene in cervical cancers and knockdown of APOC1 inhibited cervical cancer cells growth in vitro and in vivo. There is a close relationship between the relative expression of APOC1 and clinical outcome in cervical cancer patients.

show abstract

Genetic Diagnosis of Familial Hypercholesterolemia in Asia

Cited by 14 publications

References 58 publications

[Retracted] A Systematic Review and Meta‐Analysis of Therapeutic Efficacy and Safety of Alirocumab and Evolocumab on Familial Hypercholesterolemia

[Retracted] A Systematic Review and Meta‐Analysis of Therapeutic Efficacy and Safety of Alirocumab and Evolocumab on Familial Hypercholesterolemia

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia

<p>Apolipoprotein C1 (APOC1): A Novel Diagnostic and Prognostic Biomarker for Cervical Cancer</p>

Contact Info

Product

Resources

About