SynthesisCommunications biology2020
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Synthesis in Communications biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Iron Status and Risk of Heart Disease, Stroke, and Diabetes: A Mendelian Randomization Study in European Adults.Journal of the American Heart Association · 2024Pooled it
- Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.Communications biology · 2022Pooled it
- Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche.Human reproduction (Oxford, England) · 2021Pooled it
- Selenium-Related Genes Modulate Susceptibility to Parkinson's Disease Via Combination and SNCA-Interactive Effects Rather than Independent Effects: A Case-Control Study.Biological trace element research · 2026Article
- Defining the human lung pathodegradome of the V8 protease fromInfection and immunity · 2026Article
- Transcriptome-wide association study of prostate cancer in the Chinese population.Asian journal of urology · 2026Article
- IRP1 deficiency alters mitochondrial metabolism and protects against metabolic syndrome pathologies.JCI insight · 2026Article
- Menopausal hormone therapy and risk of neuropsychiatric disease: a drug target Mendelian randomisation study.npj women's health · 2026Article
- Refractoriness to eltrombopag in adult primary immune thrombocytopenia: utility of next-generation sequencing techniques.Blood vessels, thrombosis & hemostasis · 2025Article
- Genetic and computational analysis of AKR1C4 gene rs17134592 polymorphism in breast cancer among the Bangladeshi population.Scientific reports · 2025Article
- Article
- Mechanisms controlling cellular and systemic iron homeostasis.Nature reviews. Molecular cell biology · 2024Review
- CARE as a wearable derived feature linking circadian amplitude to human cognitive functions.NPJ digital medicine · 2023Article
- Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia.International journal of molecular sciences · 2023Article
- ipaQTL-atlas: an atlas of intronic polyadenylation quantitative trait loci across human tissues.Nucleic acids research · 2023Article
- Unveiling the functional and evolutionary landscape of RNA editing in chicken using genomics and transcriptomics.Zoological research · 2022Article
- A Prospective Study on the Relationship between Iron Supplement Intake, Hemoglobin Concentration, and Risk of Parkinsonism.Nutrients · 2022Article
- Genomic basis of insularity and ecological divergence in barn owls (Tyto alba) of the Canary Islands.Heredity · 2022Article
- Erythrocytosis associated withHaematologica · 2022Article
- Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.Frontiers in cardiovascular medicine · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of hemoglobin concentration using a combined set of 684,122 individuals from Iceland and the UK. Notably, we found seven novel variants, six rare coding and one common, at the ACO1 locus associating with either decreased or increased hemoglobin concentration. Of these variants, the missense Cys506Ser and the stop-gained Lys334Ter mutations are specific to eight and ten generation pedigrees, respectively, and have the two largest effects in the study (Effect
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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.