SynthesisHuman molecular genetics2011
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Synthesis in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Novel loci and biomedical consequences of iron homoeostasis variation.Communications biology · 2024Pooled it
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Human genetics · 2015Pooled it
- Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.American journal of human genetics · 2013Pooled it
- PCSK7 genotype modifies effect of a weight-loss diet on 2-year changes of insulin resistance: the POUNDS LOST trial.Diabetes care · 2015Trial
- A candidate gene approach for identifying differential iron responses in young overweight women to an energy-restricted haem iron-rich diet.European journal of clinical nutrition · 2014Trial
- The Biology and Clinical Implications of PCSK7.Endocrine reviews · 2025Review
- Circulating PCSK7 Level is Independently Associated with Obesity, Triglycerides Level and Fatty Liver Index in a General Population without Medication.Journal of atherosclerosis and thrombosis · 2022Article
- Post-Transcriptional Effects of miRNAs on PCSK7 Expression and Function: miR-125a-5p, miR-143-3p, and miR-409-3p as Negative Regulators.Metabolites · 2022Article
- Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.Orphanet journal of rare diseases · 2022Article
- Article
- Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.Journal of lipid research · 2022Article
- Distribution and Associated Factors of Hepatic Iron-A Population-Based Imaging Study.Metabolites · 2021Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- The rs508487, rs236911, and rs236918 Genetic Variants of the Proprotein Convertase Subtilisin-Kexin Type 7 (Cells · 2021Article
- Mouse Models of Human Proprotein Convertase Insufficiency.Endocrine reviews · 2021Review
- Genetically Guided Mediterranean Diet for the Personalized Nutritional Management of Type 2 Diabetes Mellitus.Nutrients · 2021Review
- Shedding of cancer susceptibility candidate 4 by the convertases PC7/furin unravels a novel secretory protein implicated in cancer progression.Cell death & disease · 2020Article
- Article
- Building bridges: PCSK7 as a NAFLD candidate gene connecting hepatic inflammation with hypertriglyceridemia.Journal of lipid research · 2019Article
- PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
26 authors at 11 institutions in 6 countries.
Funding
Abstract
The level of body iron storage and the erythropoietic need for iron are indicated by the serum levels of ferritin and soluble transferrin receptor (sTfR), respectively. A meta-analysis of five genome-wide association studies on sTfR and ferritin revealed novel association to the PCSK7 and TMPRSS6 loci for sTfR and the HFE locus for both parameters. The PCSK7 association was the most significant (rs236918, P = 1.1 × 10E-27) suggesting that proprotein convertase 7, the gene product of PCSK7, may be involved in sTfR generation and/or iron homeostasis. Conditioning the sTfR analyses on transferrin saturation abolished the HFE signal and substantially diminished the TMPRSS6 signal while the PCSK7 association was unaffected, suggesting that the former may be mediated by transferrin saturation whereas the PCSK7-associated effect on sTfR generation appears to be more direct.
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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.