SynthesisJournal of the American Medical Informatics Association : JAMIA2024
Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program.
Synthesis in Journal of the American Medical Informatics Association : JAMIA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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Who cites it
4 citing papers in PubMed.
- A Logratio Approach to the Analysis of Autosomal Genotype Frequencies Across Multiple Samples.Molecular ecology resources · 2026Article
- Pervasive fitness trade-offs revealed by rapid adaptation to shifting population densities in large experimental populations ofbioRxiv : the preprint server for biology · 2025Article
- Characterisation of the ABO Blood Group Phenotypes Using Third-Generation Sequencing.International journal of molecular sciences · 2025Article
- Returning value to communities from the All of Us Research Program through innovative approaches for data use, analysis, dissemination, and research capacity building.Journal of the American Medical Informatics Association : JAMIA · 2024Article
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Authors and funding
10 authors.
Funding
Abstract
objectivesABO blood types have widespread clinical use and robust associations with disease. The purpose of this study is to evaluate the portability and suitability of tag single-nucleotide polymorphisms (tSNPs) used to determine ABO alleles and blood types across diverse populations in published literature. MATERIALS AND
methodsBibliographic databases were searched for studies using tSNPs to determine ABO alleles. We calculated linkage between tSNPs and functional variants across inferred continental ancestry groups from 1000 Genomes. We compared r2 across ancestry and assessed real-world consequences by comparing tSNP-derived blood types to serology in a diverse population from the All of Us Research Program.
resultsLinkage between functional variants and O allele tSNPs was significantly lower in African (median r2 = 0.443) compared to East Asian (r2 = 0.946, P = 1.1 × 10-5) and European (r2 = 0.869, P = .023) populations. In All of Us, discordance between tSNP-derived blood types and serology was high across all SNPs in African ancestry individuals and linkage was strongly correlated with discordance across all ancestries (ρ = -0.90, P = 3.08 × 10-23). DISCUSSION: Many studies determine ABO blood types using tSNPs. However, tSNPs with low linkage disequilibrium promote misinference of ABO blood types, particularly in diverse populations. We observe common use of inappropriate tSNPs to determine ABO blood type, particularly for O alleles and with some tSNPs mistyping up to 58% of individuals.
conclusionOur results highlight the lack of transferability of tSNPs across ancestries and potential exacerbation of disparities in genomic research for underrepresented populations. This is especially relevant as more diverse cohorts are made publicly available.
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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 Socratic graph.