ArticleCommunications biology2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Article in Communications biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.
- Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.Communications biology · 2020Pooled it
- Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.Nature communications · 2020Pooled it
- Circulating erythropoietin concentration associates with thromboembolism in sickle cell disease.British journal of haematology · 2026Article
- Comparative transcriptomics identifies genes underlying growth performance of the Pacific black-lipped pearl oyster Pinctada margaritifera.BMC genomics · 2024Article
- Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease.Hypertension (Dallas, Tex. : 1979) · 2021Article
- The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.Communications biology · 2021Article
- Germline variants at SOHLH2 influence multiple myeloma risk.Blood cancer journal · 2021Article
- A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.Nature genetics · 2019Article
Corrections and comments
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Authors and funding
23 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The cytokine erythropoietin (EPO), signalling through the EPO receptor (EPO-R), is essential for the formation of red blood cells. We performed a genome-wide association study (GWAS) testing 32.5 million sequence variants for association with serum EPO levels in a set of 4187 individuals. We detect an association between a rare and well imputed stop-gained variant rs370865377[A] (p.Gln82Ter) in
Identifiers
What OpenQuestion holds
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.