ArticleBlood2021
Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation.
Article in Blood, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Impact of ABO blood groups on residual pulmonary vascular obstruction in patients with unprovoked pulmonary embolism.Blood vessels, thrombosis & hemostasis · 2026Article
- Large-Scale Analyses of GWAS Identify Five Key Pleiotropic Genes Involved in Complex Diseases.Genes · 2026Article
- Analysis of whole genome sequencing and plasma metabolomics unveil genetic determinants and clinical implications for human health.Nature communications · 2026Article
- Article
- Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study.The Lancet regional health. Western Pacific · 2026Article
- ABO gene polymorphisms: a molecular bridge linking disease susceptibility to therapeutic outcomes.Frontiers in medicine · 2026Review
- Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.Medical sciences (Basel, Switzerland) · 2025Article
- Altered DNA methylation of the ABO gene is associated with differential plasma levels of von willebrand factor and E-selectin.Transfusion · 2025Article
- Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Additive association of blood group A allele with 15 cardiometabolic diseases: a UK Biobank life-course study.Cardiovascular diabetology · 2025Article
- Associations of coagulation parameters and thrombin generation potential with the incidence of type 2 diabetes: mediating role of glycoprotein acetylation.European journal of epidemiology · 2024Article
- SMIM1 absence is associated with reduced energy expenditure and excess weight.Med (New York, N.Y.) · 2024Article
- A Cross-Sectional Study of the A1 Phenotype in the Colombian Caribbean: A Shadow Behind Pulmonary Embolism.Cureus · 2024Article
- Association between ABO genotypes and risk of dementia and neuroimaging markers: roles of sex and APOE status.Frontiers in neurology · 2024Article
- ABO blood types may affect transient neurological events after surgical revascularization in patients with moyamoya disease: a retrospective single center study.BMC anesthesiology · 2023Article
- Evaluation of Single Nucleotide Variants in Intron 1 of the ABO Gene as Diagnostic Markers for the ATransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Article
- Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design.BMC medical research methodology · 2023Article
- Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants.Blood advances · 2023Article
- ABO Blood Groups in Systemic Sclerosis: Distribution and Association with This Disease's Characteristics.Journal of clinical medicine · 2022Article
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Authors and funding
28 authors at 12 institutions in 5 countries.
Funding
Abstract
Genetic risk score (GRS) analysis is a popular approach to derive individual risk prediction models for complex diseases. In venous thrombosis (VT), such type of analysis shall integrate information at the ABO blood group locus, which is one of the major susceptibility loci. However, there is no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when properly assessing association between ABO locus and VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in 5425 cases and 8445 controls from 6 studies, we demonstrate that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal, because 5% of rs8176719-delG carriers do not have an increased risk of developing VT. Instead, we recommend the use of 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B), and rs41302905 (O2), when assessing the impact of ABO locus on VT risk to avoid any risk misestimation. Compared with the O1 haplotype, the A2 haplotype is associated with a modest increase in VT risk (odds ratio, ∼1.2), the A1 and B haplotypes are associated with an ∼1.8-fold increased risk, whereas the O2 haplotype tends to be slightly protective (odds ratio, ∼0.80). In addition, although the A1 and B blood groups are associated with increased von Willebrand factor and factor VIII plasma levels, only the A1 blood group is associated with ICAM levels, but in an opposite direction, leaving additional avenues to be explored to fully understand the spectrum of biological effects mediated by ABO locus on cardiovascular traits.
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