ArticleJournal of the American College of Cardiology2008
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
Article in Journal of the American College of Cardiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 86 citations in OpenAlex.
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- Article
- Barriers and shortcomings in access to cardiovascular management and prevention for familial hypercholesterolemia during the COVID-19 pandemic.Clinical cardiology · 2023Review
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
- Article
- Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.Biochemical genetics · 2022Review
- Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.Clinical genetics · 2021Article
- The Genetic Basis of Hypertriglyceridemia.Current atherosclerosis reports · 2021Review
- ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.Scientific reports · 2021Article
- Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.American journal of human genetics · 2020Article
- Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.Journal of the Endocrine Society · 2020Article
- Genetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor.Frontiers in genetics · 2020Review
- Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.Atherosclerosis · 2017Article
- Genetic Architecture of Familial Hypercholesterolaemia.Current cardiology reports · 2017Review
- Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.Human mutation · 2013Article
- Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Orphanet journal of rare diseases · 2012Article
- A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.Molecular biology reports · 2012Article
- The genetics of familial combined hyperlipidaemia.Nature reviews. Endocrinology · 2012Review
- Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.Journal of lipid research · 2011Review
- The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.The application of clinical genetics · 2010Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe purpose of this study was to determine the frequency of mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes in consecutive patients with a clinical diagnosis of familial combined hyperlipidemia (FCH) in a nonresearch setting.
backgroundThe lipid phenotype frequently overlaps in familial hypercholesterolemia (FH) and FCH. Detection of causative mutations in LDLR or APOB provides an unequivocal diagnosis of FH, but such genetic testing has not been systematically performed in FCH.
methodsWe used Lipochip (Progenika, Derio, Spain), a microarray that includes 203 causative mutations in LDLR and 4 APOB defects, to investigate 143 unrelated FCH patients.
resultsMutations of LDLR were found in 28 patients (overall prevalence, 19.6%). No APOB defects were found. Compared with patients who had a normal LDLR gene, patients with mutations had lower waist circumference (p = 0.02); significantly (p < 0.005) higher total cholesterol, non-high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and apoB; nonsignificantly (p = 0.063) lower triglycerides; and a lower frequency of diabetes mellitus (22% vs. 0%, respectively; p = 0.002). Total cholesterol and apoB levels showed the best receiver-operator characteristics curves in the prediction of LDLR mutations, with areas under the curve (95% CI: of 0.750 (95% confidence interval [CI]: 0.647 to 0.853) and 0.744 (95% CI: 0.636 to 0.851), respectively. Total cholesterol of 335 mg/dl and apoB of 185 mg/dl were the best thresholds for diagnosis of LDLR mutations.
conclusionsScreening for LDLR defects is advisable for patients with a clinical diagnosis of FCH showing high total cholesterol or apoB levels. Diagnostic criteria for FH should not exclude patients whose personal and familial lipid values appear to fit the clinical criteria of FCH.
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