there is a substantial and rapidly growing body of research using UK Biobank data to study blood type and haplotype associations with health and disease. The availability of genetic data for ~500,000 participants has enabled researchers to move beyond simple serological blood typing to precise genetic determination of ABO alleles and haplotypes, revealing nuanced relationships with a wide range of clinical outcomes.
🔬 How Blood Type Haplotypes Are Determined in UK Biobank
Researchers use specific single nucleotide polymorphisms (SNPs) in the ABO gene on chromosome 9q34.2 to genetically infer blood group status . The key SNPs include:
| SNP | Role in Blood Type Determination |
|---|---|
| rs8176719 | A deletion at this position indicates the O haplotype |
| rs8176746 | A T allele at this SNP indicates the B haplotype |
| rs505922 | Used in combination with others to determine haplotypes |
Using these markers, participants can be classified into:
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OO genotype (blood group O)
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AO or AA genotype (blood group A – crucially, genetic data allows distinction between heterozygous AO and homozygous AA)
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BO or BB genotype (blood group B)
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AB genotype (excluded from some studies due to small sample size)
This genetic approach is more powerful than traditional serology because it enables haplotype-level analysis – researchers can distinguish between individuals with one versus two copies of the A allele, revealing gene dosage effects .
📊 Key Research Findings on Blood Type Haplotypes
Dose-Response Relationship with Cardiovascular Disease
A major 2025 study published in Cardiovascular Diabetology examined over 320,000 UK Biobank participants with blood groups O and A . The key finding: each additional copy of the A allele incrementally increases disease risk for:
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Venous thromboembolism (VTE): HR = 1.273 per A allele (most significant association)
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Myocardial infarction (MI)
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Ischemic stroke (IS)
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Type 2 diabetes mellitus (T2DM)
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Heart failure (HF)
This additive (gene dosage) model revealed associations that were less apparent under simpler dominant/recessive models, demonstrating the value of haplotype-level analysis .
note: the exact references should be checked as the article was produced using deepseek.
Author : Kadir Uludag
Postdoctoral researcher
profile:https://scholar.google.com/citations?user=ea4QpU4AAAAJ&hl=en&oi=ao
