ArticleCirculation. Cardiovascular genetics2012
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
Article in Circulation. Cardiovascular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- The panorama of familial hypercholesterolemia in Latin America: a systematic review.Journal of lipid research · 2016Pooled it
- Longitudinal Trends in Severe Dyslipidemia in the Czech Population: The Czech MONICA and Czech Post-MONICA Study.Journal of cardiovascular development and disease · 2023Article
- The Propagation of Racial Disparities in Cardiovascular Genomics Research.Circulation. Genomic and precision medicine · 2021Review
- Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia.Journal of the American Heart Association · 2021Article
- A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial HypercholesterolemiaIranian biomedical journal · 2021Article
- Genetic basis of hypercholesterolemia in adults.NPJ genomic medicine · 2021Article
- Taking One Step Back in Familial Hypercholesterolemia:Arteriosclerosis, thrombosis, and vascular biology · 2020Article
- Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.Journal of the Endocrine Society · 2020Article
- Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.Clinical cardiology · 2018Article
- Heterozygous NullCirculation. Cardiovascular genetics · 2017Article
- Statin-associated muscle symptoms and SLCO1B1 rs4149056 genotype in patients with familial hypercholesterolemia.American heart journal · 2016Article
- Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.Journal of the American College of Cardiology · 2016Article
- A perspective for sequencing familial hypercholesterolaemia in African Americans.NPJ genomic medicine · 2016Article
- Genetics of familial hypercholesterolemia.Current atherosclerosis reports · 2015Review
- Serum proprotein convertase subtilisin/kexin type 9 and cell surface low-density lipoprotein receptor: evidence for a reciprocal regulation.Circulation · 2013Article
- Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations.Journal of clinical lipidologyArticle
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4 authors at 1 institution in 1 country.
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Abstract
unlabelledBACKGROUND- Autosomal dominant hypercholesterolemia (ADH), characterized by elevated plasma levels of low-density lipoprotein (LDL)-cholesterol, is caused by variants in at least 3 different genes: LDL receptor (LDLR), apolipoprotein B-100, and proprotein convertase subtilisin-like kexin type 9. There is paucity of data about the molecular basis of ADH among ethnic groups other than those of European or Japanese descent. Here, we examined the molecular basis of ADH in a multiethnic patient cohort from lipid clinics in a large, urban US city. METHODS AND RESULTS- A total of 38 men and 53 women, aged 22 to 76 years, met modified Simon-Broome criteria for ADH and were screened for mutations in the exons and consensus splice sites of LDLR, and in selected exons of apolipoprotein B-100 and proprotein convertase subtilisin-like kexin type 9. Deletions and duplications of LDLR exons were detected with multiplex ligation-dependent probe amplification. Heterozygous variants in LDLR were identified in 30 patients and in apolipoprotein B-100 in 1 patient. The remaining 60 patients (65%) had unexplained ADH. A higher proportion of blacks (77%) than either non-Hispanic whites (57%) or Hispanics (53%) had unexplained ADH. Compared with patients with LDLR variants, those with unexplained ADH had lower levels of LDL-cholesterol (292 ± 47 mg/dL versus 239 ± 42 mg/dL, respectively; P<0.0001) and higher levels of high-density lipoprotein cholesterol (45 ± 12 mg/dL versus 54 ± 13 mg/dL, respectively; P=0.003).
conclusionsOur findings suggest that additional loci may contribute to ADH, especially in understudied populations such as blacks.
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