ArticleThe Journal of clinical investigation2021
Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.
Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Red blood cell transfusion survival in sickle cell disease is reduced by donor characteristics and recipient spleen activity.Blood advances · 2026Trial
- Riociguat in patients with sickle cell disease and hypertension or proteinuria (STERIO-SCD): a randomised, double-blind, placebo controlled, phase 1-2 trial.The Lancet. Haematology · 2024Trial
- Associations of blood donor and product characteristics with platelet transfusion outcomes.Blood advances · 2026Article
- Fundamentals of big data and artificial intelligence in transfusion medicine.Vox sanguinis · 2026Review
- Genome-wide association of pica within a cohort of volunteer blood donors potentially implicates the gene encoding neuropeptide VF.Transfusion · 2026Article
- Lower efficacy of transfusion of red blood cells from donors with sickle cell trait.HemaSphere · 2026Article
- Improved red blood cell storage quality of blood from donors carrying the hypermorphic PIMT I120 variant.HemaSphere · 2026Article
- Genetic architecture of the murine red blood cell proteome reveals central role of hemoglobin beta cysteine 93 in maintaining redox balance.Cell genomics · 2026Article
- Caffeine impairs red blood cell storage quality by dual inhibition of ADORA2b signaling and G6PD activity.Haematologica · 2026Article
- CD39 polymorphism enables lung thrombosis in sickle cell disease.Nature communications · 2026Article
- Short- and long-term effects of transfusion in β-thalassemia: a longitudinal study of transfusion efficiency factors.Blood advances · 2026Article
- Surface acoustic wave hemolysis assay for evaluating stored red blood cells.Lab on a chip · 2026Article
- HypomorphicHemaSphere · 2026Article
- Donor- and unit-specific factors influencing hemolysis in stored canine and feline packed red blood cells.Frontiers in veterinary science · 2026Article
- Identification of Key Genes and Pathways Associated With Gender Differences in Pulmonary Arterial Hypertension Based on Bioinformatic Approaches.BioMed research international · 2026Article
- When Blood Remembers Its Sex: Toward Truly Personalized Transfusion Medicine.Journal of personalized medicine · 2025Review
- GPX4 regulates lipid peroxidation and ferroptosis of stored red blood cells.Blood red cells & iron · 2025Article
- From metabolomics to transfusion-associated immunomodulation.Current opinion in immunology · 2025Review
- Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participants.Blood · 2025Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
Abstract
BackgroundThe evolutionary pressure of endemic malaria and other erythrocytic pathogens has shaped variation in genes encoding erythrocyte structural and functional proteins, influencing responses to hemolytic stress during transfusion and disease.MethodsWe sought to identify such genetic variants in blood donors by conducting a genome-wide association study (GWAS) of 12,353 volunteer donors, including 1,406 African Americans, 1,306 Asians, and 945 Hispanics, whose stored erythrocytes were characterized by quantitative assays of in vitro osmotic, oxidative, and cold-storage hemolysis.ResultsGWAS revealed 27 significant loci (P < 5 × 10-8), many in candidate genes known to modulate erythrocyte structure, metabolism, and ion channels, including SPTA1, ALDH2, ANK1, HK1, MAPKAPK5, AQP1, PIEZO1, and SLC4A1/band 3. GWAS of oxidative hemolysis identified variants in genes encoding antioxidant enzymes, including GLRX, GPX4, G6PD, and SEC14L4 (Golgi-transport protein). Genome-wide significant loci were also tested for association with the severity of steady-state (baseline) in vivo hemolytic anemia in patients with sickle cell disease, with confirmation of identified SNPs in HBA2, G6PD, PIEZO1, AQP1, and SEC14L4.ConclusionsMany of the identified variants, such as those in G6PD, have previously been shown to impair erythrocyte recovery after transfusion, associate with anemia, or cause rare Mendelian human hemolytic diseases. Candidate SNPs in these genes, especially in polygenic combinations, may affect RBC recovery after transfusion and modulate disease severity in hemolytic diseases, such as sickle cell disease and malaria.
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