ABO blood group and thrombotic vascular disease

Summary

ABO blood group antigens are complex carbohydrate molecules expressed on red blood cells and a variety of tissues. The ABO blood type is implicated in the development of a number of human diseases and there is increasing evidence regarding its involvement in the pathogenesis of cardiovascular disorders, mainly through its effect on von Willebrand factor levels. In this review, after a brief analysis of the potential molecular mechanisms by which the blood group influences haemostasis, we focus on the clinical implications of such interaction. Overall, the literature data document the close relationship between venous thromboembolism (VTE) and non-O blood type, which is associated with an approximately two-fold increased risk of venous thrombosis. A supra-additive effect on VTE risk is observed when an inherited thrombophilic condition is associated with non-O blood group. A weaker association exists between non-O blood type and arterial thrombosis, which needs to be further investigated.

Keywords

ABO blood group - thrombosis - venous thromboembolism - arterial thrombosis - coronary heart disease

• References

• 1 Landsteiner K. On Agglutination of Normal Human Blood. Transfusion 1961; 01: 5-8.
• 2 Franchini M, Liumbruno GM. ABO blood group: old dogma, new perspectives. Clin Chem Lab Med 2013; 51: 1545-1553.
• 3 Storry JR, Olsson ML. The ABO blood group system revisited: a review and update. Immunohematology 2009; 25: 48-59.
• 4 Lowe J. The blood group-specific human glycosyltransferases. Baillieres Clin Haematol 1993; 06: 465-490.
• 5 Eastlund T. The histo-blood group ABO system and tissue transplantation. Transfusion 1998; 38: 975-988.
• 6 Franchini M. et al. ABO blood group, hypercoagulability, and cardiovascular and cancer risk. Crit Rev Clin Lab Sci 2012; 49: 137-149.
• 7 Liumbruno GM, Franchini M. Beyond immunohaematology: the role of the ABO blood group in human diseases. Blood Transfus 2013; 11: 491-499.
• 8 Anstee DJ. The relationship between blood groups and disease. Blood 2010; 115: 4635-4643.
• 9 Preston AE, Barr A. The plasma concentration of factor VIII in the normal population. Br J Haematol 1964; 10: 238-245.
• 10 Moeller A. et al. Influence of ABO blood groups on primary hemostasis. Trans-fusion 2001; 41: 56-60.
• 11 O’Donnell JS, Lasffan MA. The relationship between ABO histo-blood group, factor VIII and von Willebrand factor. Transfus Med 2001; 11: 343-351.
• 12 Gill JC. et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-1695.
• 13 Jenkins PV, O’Donnell JS. ABO blood group determines plasma von Willebrand factor levels: a biologic function after all?. Transfusion 2006; 46: 1836-1844.
• 14 Yamamoto F. et al. Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal. Biochem Biophys Res Commun 1992; 187: 366-374.
• 15 Morelli VM. et al. ABO blood group genotypes and the risk of venous thrombosis: effect of factor V Leiden. J Thromb Haemost 2005; 03: 183-185.
• 16 O’Donnell JS. et al. Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. Blood 2005; 106: 1988-1991.
• 17 Matsui T. et al. Structures of the asparagine-linked oligosaccharide chains of human von Willebrand factor. Occurrence of blood group A, B, and H(O) structures. J Biol Chem 1992; 267: 8723-8731.
• 18 Casari C. et al. Clearance of von Willebrand factor. J Thromb Haemost 2013; 11 (Suppl. 01) 202-211.
• 19 Preston RJ. et al. Elucidating the role of carbohydrate determinants in regulating hemostasis: insights and opportunities. Blood 2013; 121: 3801-3810.
• 20 Davies JA. et al. von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group. J Thromb Haemost 2008; 06: 97-103.
• 21 Gallinaro L. et al. A shorter von Willebrand factor survival in O blood group subjects explains how ABO determinants influence plasma von Willebrand factor. Blood 2008; 111: 3540-3545.
• 22 Rastegarlari G. et al. Macrophage LRP1 contributes to the clearance of von Willebrand factor. Blood 2012; 119: 2126-2134.
• 23 Casari C. et al. Accelerated uptake of VWF/platelet complexes in macrophages contributes to VWD type 2B-associated thrombocytopenia. Blood 2013; 122: 2893-2902.
• 24 Marchetti G. et al. Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women. Haematologica 2006; 91: 1261-1263.
• 25 Vormittag R. et al. Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism. J Thromb Haemost 2007; 05: 497-502.
• 26 Bowen DJ. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. J Thromb Haemost 2003; 01: 33-40.
• 27 McKinnon TA. et al. N-linked glycosylation of VWF modulates its interaction with ADAMTS13. Blood 2008; 111: 3042-3049.
• 28 McGrath RT. et al. Altered glycosylation of platelet-derived von Willebrand factor confers resistance to ADAMTS13 proteolysis. Blood 2013; 122: 4107-4110.
• 29 McGrath RT. et al. Expression of terminal alpha2–6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13. Blood 2010; 115: 2666-2673.
• 30 McKinnon TA. et al. Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor. Blood 2010; 116: 640-648.
• 31 Barbalic M. et al. Large-scale genomic studies reveal central role of ABO in sPselectin and sICAM-1 levels. Hum Mol Genet 2010; 19: 1863-1872.
• 32 Kiechl S. et al. Association of variation at the ABO locus with circulating levels of soluble intercellular adhesion molecule-1, soluble P-selectin, and soluble E-selectin: a meta-analysis. Circ Cardiovasc Genet 2011; 04: 681-686.
• 33 Melzer D. et al. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 2008; 04: e1000072.
• 34 Luo W. et al. P-selectin glycoprotein ligand-1 deficiency leads to cytokine resistance and protection against atherosclerosis in apolipoprotein E deficient mice. Atherosclerosis 2012; 220: 110-117.
• 35 Kisucka J. et al. Elevated levels of soluble P-selectin in mice alter blood-brain barrier function, exacerbate stroke, and promote atherosclerosis. Blood 2009; 113: 6015-6022.
• 36 Franchini M, Mannucci PM. Von Willebrand factor: another janus-faced hemostasis protein. Semin Thromb Hemost 2008; 34: 663-669.
• 37 Dick W. et al. Interrelations of thrombo-embolic diseases and blood group distribution. Thromb Diath Haemorrh 1963; 09: 472-474.
• 38 Koster T. et al. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995; 345: 152-155.
• 39 Wautrecht JC. et al. The role of ABO blood groups in the incidence of deep vein thrombosis. Thromb Haemost 1998; 79: 688-689.
• 40 Tirado I. et al. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. Thromb Haemost 2005; 93: 468-474.
• 41 Ohira T. et al. ABO blood group, other risk factors and incidence of venous thromboembolism: the Longitudinal Investigation of Thromboembolism Etiology (LITE). J Thromb Haemost 2007; 05: 1455-1461.
• 42 El-Galaly TC. et al. Interaction between blood type, smoking and factor V Leiden mutation and risk of venous thromboembolism: a Danish case–cohort study. J Thromb Haemost 2012; 10: 2191-2193.
• 43 Spiezia L. et al. ABO blood groups and the risk of venous thrombosis in patients with inherited thrombophilia. Blood Transfus 2013; 11: 250-253.
• 44 Wolpin BM. et al. Prospective study of ABO blood type and the risk of pulmonary embolism in two large cohort studies. Thromb Haemost 2010; 104: 962-971.
• 45 Sode BF. et al. Risk of venous thromboembolism and myocardial infarction associated with factor V Leiden and prothrombin mutations and blood type. CMAJ 2013; 185: E229-E237.
• 46 Dentali F, Franchini M. Recurrent venous thromboembolism: a role for ABO blood group?. Thromb Haemost 2013; 110: 1110-1111.
• 47 Gándara E. et al. Non-OO blood type influences the risk of recurrent venous thromboembolism. A cohort study. Thromb Haemost 2013; 110: 1172-1179.
• 48 Trégouët DA. et al. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood 2009; 113: 5298-5303.
• 49 Heit JA. et al. A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. J Thromb Haemost 2012; 10: 1521-1531.
• 50 Wu O. et al. ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J Thromb Haemost 2008; 06: 62-69.
• 51 Dentali F. et al. Non-O blood type is the commonest genetic risk factor for VTE: results from a meta-analysis of the literature. Semin Thromb Hemost 2012; 38: 535-548.
• 52 Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost 2009; 07 (Suppl. 01) 301-304.
• 53 Franchini M, Makris M. Non-O blood group: an important genetic risk factor for venous thromboembolism. Blood Transfus 2013; 11: 164-165.
• 54 Medalie JH. et al. Blood groups, myocardial infarction and angina pectoris among 10,000 adult males. N Engl J Med 1971; 285: 1348-1353.
• 55 Whincup PH. et al. ABO blood group and ischaemic heart disease in British men. Br Med J 1990; 300: 1679-1682.
• 56 Meade TW. et al. Factor VIII ABO blood group and the incidence of ischaemic heart disease. Br J Haematol 1994; 88: 601-607.
• 57 Roest M. et al. Risk of acute ischemic heart disease in postmenopausal women depends on von Willebrand factor and fibrinogen concentrations, and blood group genotype. J Thromb Haemost 2007; 05: 189-191.
• 58 Wiggins KL. et al. ABO genotype and risk of thrombotic events and hemorrhagic stroke. J Thromb Haemost 2009; 07: 263-269.
• 59 Carpeggiani C. et al. ABO blood group alleles: a risk factor for coronary artery disease. An angiographic study. Atherosclerosis 2010; 211: 461-466.
• 60 George VT. et al. Association between polymorphic blood markers and risk factors for cardiovascular disease in a large pedigree. Genet Epidemiol 1987; 04: 267-275.
• 61 Chen Y. et al. Analysis of circulating cholesterol levels as a mediator of an association between ABO blood group and coronary heart disease. Circ Cardiovasc Genet 2014; 07: 43-48.
• 62 Jager A. et al. von Willebrand factor, C-reactive protein, and 5-year mortality in diabetic and nondiabetic subjects: the Hoorn Study. Arterioscler Thromb Vasc Biol 1999; 19: 3071-3078.
• 63 Franchini M. et al. ABO blood group and the risk of coronary artery disease. J Thromb Thrombolysis 2013; 36: 286-287.
• 64 Jukic I. et al. Evaluation of ABO blood groups as a risk factor for myocardial infarction. Blood Transfus 2013; 11: 464-465.
• 65 Yamamoto F. et al. ABO research in the modern era of genomics. Transfus Med Rev 2012; 26: 103-118.
• 66 Reilly MP. et al. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet 2011; 377: 383-392.
• 67 Schunkert H. et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011; 43: 333-338.
• 68 Wauters E. et al. Influence of 23 coronary artery disease variants on recurrent myocardial infarction or cardiac death: the GRACE Genetics Study. Eur Heart J 2013; 34: 993-1001.
• 69 Williams FMK. et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol 2012; 73: 16-31.
• 70 Dichgans M. et al. Shared genetic susceptibility to ischemic stroke and coronary artery disease. A genome-wide analysis of common variants. Stroke 2014; 45: 24-36.
• 71 He M. et al. ABO blood group and risk of coronary heart disease in two prospective cohort studies. Arterioscler Thromb Vasc Biol 2012; 32: 2314-2320.
• 72 Dentali F. et al. ABO blood group and vascular disease: an update. Semin Thromb Hemost 2014; 40: 49-59.
• 73 Hanson E. et al. No evidence for an association between ABO blood group and overall ischemic stroke or any of the major etiologic subtypes. Thromb Res 2012; 130: 339-342.
• 74 Clark P, Wu O. ABO blood groups ad thrombosis: a causal association, but is there value in screening?. Future Cardiol 2011; 07: 191-201.
• 75 Franchini M, Lippi G. Factor V Leiden in women: a thrombotic risk factor or an evolutionary advantage?. Semin Thromb Hemost 2011; 37: 275-279.
• 76 Franchini M, Mannucci PM. Interactions between genotype and phenotype in bleeding and thrombosis. Haematologica 2008; 93: 649-652.
• 77 Cserti CM, Dzik WH. The ABO blood group system and Plasmodium falciparum malaria. Blood 2007; 110: 2250-2258.
• 78 Glass RI. et al. Predisposition for cholera of individuals with O blood group. Possible evolutionary significance. Am J Epidemiol 1985; 121: 791-796.
• 79 Coppola R. et al. Von Willebrand factor in Italian centenarians. Haematologica 2003; 88: 39-43.