ArticlePloS one2011
Genome-wide association study identifies genetic loci associated with iron deficiency.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Genetic Variants Affecting Iron Metabolism in Healthy Adults: A Systematic Review to Support Personalized Nutrition Strategies.Nutrients · 2024Pooled it
- GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.Human molecular genetics · 2013Pooled it
- Functional Iron-Transport Genes-International journal of molecular sciences · 2026Article
- C282Y Homozygosity Increases Erythrocyte Turnover and Decreases HbA1c-A Population-Based Study.International journal of molecular sciences · 2026Article
- Mean Corpuscular Volume inJournal of hematology · 2026Article
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- Factors related to mean corpuscular volume inEJHaem · 2025Article
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- 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
- 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
- Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.Scientific reports · 2021Article
- Whole Genome Interpretation for a Family of Five.Frontiers in genetics · 2021Article
- Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework.Nutrients · 2020Review
- The Prevalence of Insomnia and the Link between Iron Metabolism Genes Polymorphisms,International journal of environmental research and public health · 2020Article
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
- Article
- A decade in psychiatric GWAS research.Molecular psychiatry · 2019Review
- Article
- Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.Blood cells, molecules & diseases · 2016Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 3 countries.
Funding
Abstract
The existence of multiple inherited disorders of iron metabolism in man, rodents and other vertebrates suggests genetic contributions to iron deficiency. To identify new genomic locations associated with iron deficiency, a genome-wide association study (GWAS) was performed using DNA collected from white men aged≥25 y and women≥50 y in the Hemochromatosis and Iron Overload Screening (HEIRS) Study with serum ferritin (SF)≤12 µg/L (cases) and iron replete controls (SF>100 µg/L in men, SF>50 µg/L in women). Regression analysis was used to examine the association between case-control status (336 cases, 343 controls) and quantitative serum iron measures and 331,060 single nucleotide polymorphism (SNP) genotypes, with replication analyses performed in a sample of 71 cases and 161 controls from a population of white male and female veterans screened at a US Veterans Affairs (VA) medical center. Five SNPs identified in the GWAS met genome-wide statistical significance for association with at least one iron measure, rs2698530 on chr. 2p14; rs3811647 on chr. 3q22, a known SNP in the transferrin (TF) gene region; rs1800562 on chr. 6p22, the C282Y mutation in the HFE gene; rs7787204 on chr. 7p21; and rs987710 on chr. 22q11 (GWAS observed P<1.51×10(-7) for all). An association between total iron binding capacity and SNP rs3811647 in the TF gene (GWAS observed P=7.0×10(-9), corrected P=0.012) was replicated within the VA samples (observed P=0.012). Associations with the C282Y mutation in the HFE gene also were replicated. The joint analysis of the HEIRS and VA samples revealed strong associations between rs2698530 on chr. 2p14 and iron status outcomes. These results confirm a previously-described TF polymorphism and implicate one potential new locus as a target for gene identification.
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