ArticleAmerican journal of human genetics2022
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Tissue-Resident Macrophages: Linking Physiology and Inflammation in Infection.Clinical reviews in allergy & immunology · 2026Review
- Review
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Multi-organ imaging and genetics show the impact of sleep patterns on the human brain and body.Communications medicine · 2026Article
- Adiposity, mortality, and disease risk: insights from bioimpedance analysis and magnetic resonance imaging.BMC medicine · 2025Article
- PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Markers of Postmortem Brain Iron.Journal of neurochemistry · 2025Article
- Influences of the second motion probing gradientQuantitative imaging in medicine and surgery · 2025Article
- Tissue Iron Distribution in Anemic Patients with End-Stage Kidney Disease: Results of a Pilot Study.Journal of clinical medicine · 2024Article
- Multi-organ imaging-derived polygenic indexes for brain and body health.medRxiv : the preprint server for health sciences · 2024Article
- Spleen volume is independently associated with non-alcoholic fatty liver disease, liver volume and liver fibrosis.Heliyon · 2024Article
- Survival analysis of patients with extrahepatic cholangiocarcinoma: a nomogram for clinical and MRI features.BMC medical imaging · 2024Article
- Causal Relationship Between Micronutrient and Sleep Disorder: A Mendelian Randomization Study.Nature and science of sleep · 2024Article
- Associations of genetically predicted iron status with 24 gastrointestinal diseases and gut microbiota: a Mendelian randomization study.Frontiers in genetics · 2024Article
- The contribution of T2 relaxation time to MRI-derived apparent diffusion coefficient (ADC) quantification and its potential clinical implications.Quantitative imaging in medicine and surgery · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
The spleen plays a key role in iron homeostasis. It is the largest filter of the blood and performs iron reuptake from old or damaged erythrocytes. Despite this role, spleen iron concentration has not been measured in a large, population-based cohort. In this study, we quantify spleen iron in 41,764 participants of the UK Biobank by using magnetic resonance imaging and provide a reference range for spleen iron in an unselected population. Through genome-wide association study, we identify associations between spleen iron and regulatory variation at two hereditary spherocytosis genes, ANK1 and SPTA1. Spherocytosis-causing coding mutations in these genes are associated with lower reticulocyte volume and increased reticulocyte percentage, while these common alleles are associated with increased expression of ANK1 and SPTA1 in blood and with larger reticulocyte volume and reduced reticulocyte percentage. As genetic modifiers, these common alleles may explain mild spherocytosis phenotypes that have been observed clinically. Our genetic study also identifies a signal that co-localizes with a splicing quantitative trait locus for MS4A7, and we show this gene is abundantly expressed in the spleen and in macrophages. The combination of deep learning and efficient image processing enables non-invasive measurement of spleen iron and, in turn, characterization of genetic factors related to the lytic phase of the erythrocyte life cycle and iron reuptake in the spleen.
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Registered trials
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