ArticleScientific reports2019
Evaluation of the role of STAP1 in Familial Hypercholesterolemia.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.Nutrients · 2025Review
- Identification of anJournal of geriatric cardiology : JGC · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.Medicina (Kaunas, Lithuania) · 2022Review
- Role of B Lymphocytes in the Pathogenesis of NAFLD: A 2022 Update.International journal of molecular sciences · 2022Review
- Article
- Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.Global cardiology science & practice · 2021Article
- Mice lacking global Stap1 expression do not manifest hypercholesterolemia.BMC medical genetics · 2020Article
- A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.Journal of personalized medicine · 2020Review
- Taking One Step Back in Familial Hypercholesterolemia:Arteriosclerosis, thrombosis, and vascular biology · 2020Article
- Review
- Genes Potentially Associated with Familial Hypercholesterolemia.Biomolecules · 2019Review
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by mutations in LDLR (low density lipoprotein receptor), APOB (apolipoprotein B), and PCSK9 (proprotein convertase subtilisin/kexin). Recently, STAP1 has been suggested as a fourth causative gene. We analyzed STAP1 in 75 hypercholesterolemic patients from Berlin, Germany, who are negative for mutations in canonical FH genes. In 10 patients with negative family history, we additionally screened for disease causing variants in LDLRAP1 (low density lipoprotein receptor adaptor protein 1), associated with autosomal-recessive hypercholesterolemia. We identified one STAP1 variant predicted to be disease causing. To evaluate association of serum lipid levels and STAP1 carrier status, we analyzed 20 individuals from a population based cohort, the Cooperative Health Research in South Tyrol (CHRIS) study, carrying rare STAP1 variants. Out of the same cohort we randomly selected 100 non-carriers as control. In the Berlin FH cohort STAP1 variants were rare. In the CHRIS cohort, we obtained no statistically significant differences between carriers and non-carriers of STAP1 variants with respect to lipid traits. Until such an association has been verified in more individuals with genetic variants in STAP1, we cannot estimate whether STAP1 generally is a causative gene for FH.
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