Deciphering Unexplained Familial Dyslipidemias
نویسندگان
چکیده
منابع مشابه
The Contribution of GWAS Loci in Familial Dyslipidemias
Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture and contribution of rare Mendelian and common variants to FCH susceptibility is unknown. In 53 Finnish FCH families, we genotyped and imputed nine million variants ...
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Regarding the suggestion that presumptive sudden unexplained death syndrome (PSUDS) may be genetically associated, we recently conducted a study to reveal the clustering of the PSUDS in extended families. The data collection was done through case searching, interviewing using structured questionnaires and cross-referencing among informants. The precise criteria were used to identify the SUNDS c...
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In this issue of Circulation, van der Graaf and colleagues1 studied 1430 children, aged 4 to 18 years, who were referred to an academic pediatric lipid clinic in the Netherlands because of dyslipidemia from July 1989 to January 2008. The objective was to determine what proportion of those with the phenotype of autosomal dominant hypercholesterolemia (ADH) had mutations in the genes encoding the...
متن کاملThe use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias.
OBJECTIVE Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH), may be clinically undetectable. We assessed the usefulness of AT sonography in the diagnosis of FH. METHODS AND RESULTS Sonographic AT characteristics were evaluated in 127 subjects with FH (81 genetically ascertained), 84 familial combined hyperlipidemia, 79 polygenic hypercholesterolemia, and 88 normo...
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BACKGROUND & AIMS A well-balanced diet is the first-line treatment in hyperlipidemia. The objective was to study the association between serum phytosterols and dietary patterns to use them as surrogate markers of dietary compliance in primary dyslipidemias. METHODS 288 patients with primary hyperlipidemias (192 autosomal dominant hypercholesterolemia (ADH) and 96 familial combined hyperlipide...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2015
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.115.001066