Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China

Chiou, Kuan Rau; Charng, Min Ji

doi:10.1016/j.gene.2012.01.092

Cited by 36 publications

(32 citation statements)

References 29 publications

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“…On the basis of the data reported thus far, it is difficult to determine whether there are any hot spots of mutations in Koreans. LDLR mutations reported in Koreans have shown little similarities with those reported in other Asian countries such as Japan 24) or Taiwan 25,26) . study 6) , the mean LDL-C level was higher than the levels in the abovementioned study 5) .…”

Section: Genetic Characteristicsmentioning

confidence: 84%

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Lee

2016

JAT

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Section: Genetic Characteristicsmentioning

confidence: 84%

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Lee

2016

JAT

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“…33 To date, an FH registry was complied only in Taiwan, and 2 small cohort studies with genetic diagnosis had been reported. 34,35 The limited data in China, however, might reflect an urgent need for national screenings for FH in this population. In the present study, we first used target exon sequencing in FH cohort of mainland China and showed the spectrum of FH gene mutations.…”

Section: Discussionmentioning

confidence: 99%

Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography

Zhu

et al. 2017

ATVB

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Large-scale clinical studies of FH have been reported from many countries, 2,7-16 but the features of FH in China are largely unknown. 17 Furthermore, the actual prevalence of FH is likely to be underestimated in the past, and the FH trait is masked by the CAD phenotype or more common risk factors without the genetically elevated cholesterol levels.3 Hence, the aim of present study was to investigate patients with FH phenotype and further provide molecular data on mutations for patients with FH in the Division of Dyslipidemia of Fu Wai Hospital, the only national center of dyslipidemia in China.© 2016 American Heart Association, Inc. Objective-Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation. Approach and Results-A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals. Molecular analysis of FH was performed using target exome sequencing in LDLR (low-density lipoprotein cholesterol receptor gene), APOB (apolipoprotein B gene), and PCSK9 (proprotein convertase subtilisin/kexin type 9 gene). As a result, 3.5% of the patients with definite/ probable FH phenotype (definite 1.0% and probable 2.5%) were identified. Women FH had fewer premature coronary artery disease (women <60, or men <55 years of age) when compared with men FH (70.6% versus 82.7%; P<0.001), whereas angiographic extension of coronary artery disease was significantly increased with FH diagnosis in both men and women (P<0.001). Patterns of medication use in definite/probable FH were as follows: nontreated, 20.6%; low intensity, 6.0%; moderate intensity, 68.3%; and high intensity, 5.0%. However, none of them had achieved the lowdensity lipoprotein cholesterol <100 mg/dL. Additionally, mutational analysis was performed in 245 definite/probable FH cases, and risk variants were identified in 115 patients, giving a detection rate of 46.9%. Conclusions-We showed firsthand a common identification but poor treatment of patients with FH phenotype in Chinese coronary angiography patients. Genetic data in our FH cases might contribute to update the frequency and spectrum of Chinese FH scenarios. Materials and MethodsMaterials and Methods are available in the online-only Data Supplement. Results Prevalence of FHBasic characteristics of the study population are summarized in Table 1. The mean (±SD) age of the participants was 57.2±10.5 years, of whom 68.7% were men and 83.8% were with CAD and 37.8% with pCAD (<55 years for men and <60 years for women). The mean total cholesterol and LDL-C were 165.25±50.58 and 101.54±43.63 mg/dL, respectively. In the sample, there were 1.0% def...

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“…Even in the same country or region, different FH criteria were applied [33][34][35] . The varied diagnostic criteria used in FH studies have resulted in poor comparability between these studies.…”

Section: Genotypes Of Fh Reported In Asian Populationsmentioning

confidence: 99%

“…Genetic mutations were found in 60 patients, of which 52 had LDLR gene mutations and eight had ApoB gene R3500W mutations. In 2012, the gene mutations for FH were identified in 130/208 patients clinically diagnosed with FH by the SBRG criteria in Taiwan, including 118 mutations in the LDLR gene and 12 in the ApoB gene 33) . In a Japanese study, 13/15 HoFH patients had LDLR gene mutations and 2/15 had PCSK9 gene mutations; among 10 HeFH patients with LDLR gene mutations, three patients also had PCSK9 gene mutations 25) .…”

Section: Genotypes Of Fh Reported In Asian Populationsmentioning

confidence: 99%

Familial Hypercholesterolemia in Asian Populations

Zhou

Zhao

2016

J Atheroscler Thromb

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Familial hypercholesterolemia (FH) is the most common autosomal disorder characterized by an elevated low-density lipoprotein-cholesterol level and a high risk of premature cardiovascular disease. In this review, we summarize information on FH studies in Asian countries, focusing on mean cholesterol level, FH frequency, diagnostic criteria, genotypes, and clinical care of FH patients in Asian populations. Compared with Western countries, most Asian countries had lower mean cholesterol levels, with a significant variation between different countries. In the limited studies reported, a frequency of 1/900 was reported in Hokuriku district, Japan in 1977 and a frequency of 1/85 among Christian Lebanese in 1979. Recently, a population study in China reported frequencies of 0.47% and 0.28%. However, the different FH frequencies reported were based on different diagnostic criteria. Of 28 publications from 16 Asian countries or regions, 14 used self-defined FH criteria. Only one specific guideline for FH was available, which was developed by Japanese scientists. Six Asian countries joined the Make Early Diagnosis to Prevent Early Deaths program in the late 1990s, and the estimated diagnosis rates of FH ranged from 3% to 10% in these countries. A more recent study explored the awareness, knowledge, and perception of FH among practitioners in Japan, Korea, and Taiwan. The study found that the correct rates of these FH-related questions were low and concluded that lack of country-specific criteria and guidelines may contribute to the lack of FH knowledge in the present survey. More attention and resources should be focused on raising awareness, improving care, and increasing FH research in Asian populations. J Atheroscler Thromb, 2016; 23: 539-549.

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Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China

Cited by 36 publications

References 29 publications

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography

Familial Hypercholesterolemia in Asian Populations

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