SynthesisHuman molecular genetics2011
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron 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 41 papers, 4 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.
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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
41 citing papers in PubMed, 4 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.PloS one · 2016Pooled it
- Genetic comorbidities in Parkinson's disease.Human molecular genetics · 2014Pooled it
- Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.The Journal of nutrition · 2013Pooled it
- GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.Human molecular genetics · 2013Pooled it
- Genetic factors associated with iron storage in Australian blood donors.Blood transfusion = Trasfusione del sangue · 2018Trial
- Macrophagic myofasciitis associated with transferrin receptor 2 and solute carrier family 40 member 1 variants and iron dysregulation: a case report.Journal of medical case reports · 2026Article
- GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations.Heredity · 2026Article
- The Iron Metabolism with a Specific Focus on the Functioning of the Nervous System.Biomedicines · 2024Review
- Polymorphisms Related to Iron Homeostasis Associate with Liver Disease in Chronic Hepatitis C.Viruses · 2023Article
- Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia.International journal of molecular sciences · 2023Article
- Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis.International journal of environmental research and public health · 2022Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- Direct-to-Consumer Genetic Testing in Korea: Current Status and Significance in Clinical Nutrition.Clinical nutrition research · 2021Review
- Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.Scientific reports · 2021Article
- The Proteomics Study of Compounded HFE/TF/TfR2/HJV Genetic Variations in a Thai Family with Iron Overload, Chronic Anemia, and Motor Neuron Disorder.Journal of molecular neuroscience : MN · 2021Article
- Nutrition, genetic variation and male fertility.Translational andrology and urology · 2021Review
- Associations of TMPRSS6 Polymorphisms with Gestational Diabetes Mellitus in Chinese Han Pregnant Women: a Preliminary Cohort Study.Biological trace element research · 2021Article
- Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework.Nutrients · 2020Review
- Personalized Nutrition for Management of Micronutrient Deficiency-Literature Review in Non-bariatric Populations and Possible Utility in Bariatric Cohort.Obesity surgery · 2020Review
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
Corrections and comments
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Authors and funding
32 authors at 12 institutions in 4 countries.
Funding
Abstract
The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.
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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.