@article {8776,
	title = {{Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation},
	journal = {Blood},
	volume = {137},
	year = {2021},
	month = {Apr},
	pages = {2394{\textendash}2402},
	abstract = {10.1182/blood.2020008997Genetic 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.},
	author = {Goumidi, L. and Thibord, F. and Wiggins, K. L. and Li-Gao, R. and Brown, M. R. and van Hylckama Vlieg, A. and Souto, J. C. and Soria, J. M. and Ibrahim-Kosta, M. and Saut, N. and Daian, D. and Olaso, R. and Amouyel, P. and Debette, S. and Boland, A. and Bailly, P. and Morrison, A. C. and Mook-Kanamori, D. O. and Deleuze, J. F. and Johnson, A. and de Vries, P. S. and Sabater-Lleal, M. and Chiaroni, J. and Smith, N. L. and Rosendaal, F. R. and Chasman, D. I. and Tr{\'e}gou{\"e}t, D. A. and Morange, P. E.}
}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
