ArticleEuropean journal of human genetics : EJHG2016
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- Genome-Wide Association Studies of Myocardial Infarction: A Systematic Literature Review.Journal of cardiovascular development and disease · 2026Review
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Review
- Identification of a functional missense variant in the matrix metallopeptidase 10 (MMP10) gene in two families with premature myocardial infarction.Scientific reports · 2024Article
- Serum metabolites and hypercholesterolemia: insights from a two-sample Mendelian randomization study.Frontiers in cardiovascular medicine · 2024Article
- The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.Atherosclerosis plus · 2023Review
- Identification and Functional Analysis ofInternational journal of molecular sciences · 2023Article
- Genome Editing in Dyslipidemia and Atherosclerosis.Advances in experimental medicine and biology · 2023Review
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Role of B Lymphocytes in the Pathogenesis of NAFLD: A 2022 Update.International journal of molecular sciences · 2022Review
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Pathogenesis of premature coronary artery disease: Focus on risk factors and genetic variants.Genes & diseases · 2022Review
- Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.Frontiers in cardiovascular medicine · 2022Article
- Familial Hypercholesterolemia: Global Burden and Approaches.Current cardiology reports · 2021Review
- Pcsk9 is associated with severity of coronary artery lesions in male patients with premature myocardial infarction.Lipids in health and disease · 2021Article
- Identification of novel variants in theBiomedical reports · 2021Article
- Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2020Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been reported to cause the classical autosomal-dominant form of the disease. FH is largely under-diagnosed in European countries. As FH increases the risk for coronary artery disease (CAD) and myocardial infarction (MI), it might be specifically overlooked in the large number of such patients. Here, we systematically examined the frequency of potential FH-causing variants by exome sequencing in 255 German patients with premature MI and a positive family history for CAD. We further performed co-segregation analyses in an average of 5.5 family members per MI patient. In total, we identified 11 potential disease-causing variants that co-segregate within the families, that is, 5% of patients with premature MI and positive CAD family history had FH. Eight variants were previously reported as disease-causing and three are novel (LDLR.c.811G>A p.(V271I)), PCSK9.c.610G>A (p.(D204N)) and STAP1.c.139A>G (p.(T47A))). Co-segregation analyses identified multiple additional family members carrying one of these FH variants and the clinical phenotype of either FH (n=2) or FH and premature CAD (n=15). However, exome sequencing also revealed that some variants in FH genes, which have been reported to cause FH, do not co-segregate with FH. The data reveal that a large proportion of FH patients escape the diagnosis, even when they have premature MI. Hence, systematic molecular-genetic screening for FH in such patients may reveal a substantial number of cases and thereby allow a timely LDLC-lowering in both FH/MI patients as well as their variant-carrying family members.
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