ArticleAmerican journal of human genetics1999
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Global trends and research hotspots of PCSK9 and cardiovascular disease: a bibliometric and visual analysis.Frontiers in cardiovascular medicine · 2024Pooled it
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.Circulation. Cardiovascular genetics · 2015Trial
- A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.Journal of the American College of Cardiology · 2005Trial
- Scientific journey from PSCK9 discovery in familial hypercholesterolaemia.Nature reviews. Cardiology · 2025Article
- PCSK9 promotes progression of anaplastic thyroid cancer through E-cadherin endocytosis.Cell death & disease · 2025Article
- Targeting proprotein convertase subtilisin/kexin type 9 (PCSK9): from bench to bedside.Signal transduction and targeted therapy · 2024Review
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- A bibliometric analysis of PCSK9 inhibitors from 2007 to 2022.Frontiers in endocrinology · 2023Article
- The Multifaceted Biology of PCSK9.Endocrine reviews · 2022Review
- Article
- Antiplatelet Effects of PCSK9 Inhibitors in Primary Hypercholesterolemia.Life (Basel, Switzerland) · 2021Review
- PCSK9 inhibitors: clinical evidence and implementation.Nature reviews. Cardiology · 2019Review
- PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.Current atherosclerosis reports · 2017Review
- Post-transcriptional Regulation of PCSK9 by miR-191, miR-222, and miR-224.Frontiers in genetics · 2017Article
- Review
- Review
- Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.BMC medical genetics · 2015Article
- LDL, HDL, VLDL, and CVD Prevention: Lessons from Genetics?Current cardiology reports · 2015Review
- Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.Current atherosclerosis reports · 2014Review
Corrections and comments
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Authors and funding
21 authors at 12 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant hypercholesterolemia (ADH), one of the most frequent hereditary disorders, is characterized by an isolated elevation of LDL particles that leads to premature mortality from cardiovascular complications. It is generally assumed that mutations in the LDLR and APOB genes account for ADH. We identified one large French pedigree (HC2) and 12 additional white families with ADH in which we excluded linkage to the LDLR and APOB, implicating a new locus we named "FH3." A LOD score of 3.13 at a recombination fraction of 0 was obtained at markers D1S2892 and D1S2722. We localized the FH3 locus to a 9-cM interval at 1p34.1-p32. We tested four regional markers in another set of 12 ADH families. Positive LOD scores were obtained in three pedigrees, whereas linkage was excluded in the others. Heterogeneity tests indicated linkage to FH3 in approximately 27% of these non-LDLR/non-APOB ADH families and implied a fourth locus. Radiation hybrid mapping located four candidate genes at 1p34.1-p32, outside the critical region, showing no identity with FH3. Our results show that ADH is genetically more heterogeneous than conventionally accepted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.