Detection of Mutations and Large Rearrangements of the Low-Density Lipoprotein Receptor Gene in Taiwanese Patients With Familial Hypercholesterolemia

Chiou, Kuan-Rau; Charng, Min‐Ji

doi:10.1016/j.amjcard.2010.01.356

Cited by 46 publications

(34 citation statements)

References 26 publications

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“…Recently, anthropological studies using genetic markers by human leukocyte antigen and microsatellites revealed that Taiwanese, with Singapore Chinese and ThaiChinese, formed a southern Asian cluster with neighboring groups of Thais and Vietnamese, which is separate from the northern Asian cluster consisting of Koreans and Japanese (Chu et al, 1998;Lin et al, 2001;Yang et al, 2009). Although there have been reports of FH from the southern Chinese (Chang et al, 2003;Charng et al, 2006;Chiou and Charng, 2010;Chiu et al, 2005;Khoo et al, 2000;Mak et al, 1998a;Sun et al, 1994;Tai et al, 1998), the relationships need to be further investigated. Accordingly, we performed molecular genetic testing to investigate the frequency of mutations among unrelated FH patients in Taiwan, analyzed haplotype patterns among patients carrying common mutations, and further compared the patterns with those of previous FH studies from the southeastern Asians.…”

Section: Introductionmentioning

confidence: 92%

“…All were clinically diagnosed as having FH by the Simon Broome Familial Hypercholesterolemia Register diagnostic criteria (Scientific Steering Committee on behalf of the Simon Broome Register Group, 1991). Totally, a series of 208 apparently unrelated Taiwanese residing throughout northern, central and southern Taiwan were enrolled, including 102 who had been surveyed in a previous study (Chiou and Charng, 2010). Patients with hypercholesterolemia due to secondary causes were excluded.…”

Section: Study Populationsmentioning

confidence: 99%

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

Chiou

Charng

2012

Gene

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Section: Introductionmentioning

confidence: 92%

Section: Study Populationsmentioning

confidence: 99%

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

Chiou

Charng

2012

Gene

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“…The relatively new multiplex ligation-dependent probe amplifi cation assay technique has greatly facilitated the identifi cation of LDLR deletions/insertions and rearrangements in ADH-1 patients ( 226,(235)(236)(237)(238)(239)(240). In a Polish sample, this technique revealed that duplication of exons 4-8 was the second most common cause of ADH-1, affecting 4.2% of such patients ( 235 ).…”

Section: Cataloguing Ldlr Mutations In Adh-1: Cautionary Tales and Upmentioning

confidence: 99%

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Calandra

Tarugi

Speedy

et al. 2011

Journal of Lipid Research

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This review covers the dietary and biochemical origins and fates of key classes of sterol molecules in humans, namely, cholesterol and the relatively under-recognized and often unappreciated noncholesterol sterols and stanols; the intra-and intercellular systems that govern their transport; and the contribution of innate genetic programs to the biochemically observed levels of plasma LDL-cholesterol (LDL-C). The reasons for these foci are both biological and medical. The former is the burgeoning knowledge of the normal physiological roles that cholesterol performs within cell membranes in supporting receptor-mediated signaling activities ( 1-4 ), the movement of diverse molecules through different membranebound compartments (5)(6)(7)(8), and multiple other cell functions (9)(10)(11), including myelination ( 12 ). The latter, Abstract This review integrates historical biochemical and modern genetic fi ndings that underpin our understanding of the low-density lipoprotein (LDL) dyslipidemias that bear on human disease. These range from life-threatening conditions of infancy through severe coronary heart disease of young adulthood, to indolent disorders of middle-and oldage. We particularly focus on the biological aspects of those gene mutations and variants that impact on sterol absorption and hepatobiliary excretion via specifi c membrane transporter systems ( NPC1L1 , ABCG5/8 ); the incorporation of dietary sterols ( MTP ) and of de novo synthesized lipids ( HMGCR, TRIB1 ) into apoB-containing lipoproteins ( APOB ) and their release into the circulation ( ANGPTL3, SARA2, SORT1 ); and receptor-mediated uptake of LDL and of intestinal and hepatic-derived lipoprotein remnants ( LDLR, APOB, APOE, LDLRAP1, PCSK9, IDOL ).The insights gained from integrating the wealth of genetic data with biological processes have important implications for the classifi cation of clinical and presymptomatic diagnoses of traditional LDL dyslipidemias, sitosterolemia, and newly emerging phenotypes, as well as their management through both nutritional and pharmaceutical means. -Calandra, S., P. Tarugi Abbreviations: ABCG5, ATP-binding cassette, subfamily G, member 5; ABCG8, ATP-binding cassette, subfamily G, member 8; ABL, abetalipoproteinemia; ADH, autosomal dominant hypercholesterolemia; ANGPTL3, angiopoietin-like 3; ARH, autosomal recessive hypercholesterolemia; BMI, body mass index; CAC, coronary artery calcifi cation; CAD, coronary artery disease; CHD, coronary heart disease; CMRD, chylomicron retention disease; CYP7A1 , cholesterol 7 ␣ -hydroxylase; EGF, epidermal growth factor; ER, endoplasmic reticulum; FCHL, familial combined hyperlipidemia; FDB, familial defective apoB; FH, familial hypercholesterolemia; FHBL, familial hypobetalipoproteinemia; GWAS, genome-wide association study; HMGCR, HMGCoA reductase; IDOL, inducible degrader of LDLR; LD, linkage disequilibrium; LDL-C, LDL-cholesterol; LDLR, LDL receptor; LRP1, LDLRAP1, LDLR-associated protein 1; LDLR-related protein 1; LXR, liver X receptor; MI, myocardial infarction; MTP, m...

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“…Therefore, the majority of mutations were in the LDLR gene, and few mutations in ApoB or PCSK9 genes were reported in Asian populations. Bamimore et al performed a patients in Taiwan were analyzed 34) . Genetic mutations were found in 60 patients, of which 52 had LDLR gene mutations and eight had ApoB gene R3500W mutations.…”

Section: Genotypes Of Fh Reported In Asian Populationsmentioning

confidence: 99%

“…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%

Familial Hypercholesterolemia in Asian Populations

Zhou

Zhao

2016

JAT

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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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Detection of Mutations and Large Rearrangements of the Low-Density Lipoprotein Receptor Gene in Taiwanese Patients With Familial Hypercholesterolemia

Cited by 46 publications

References 26 publications

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

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

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Familial Hypercholesterolemia in Asian Populations

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