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Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation

dc.rights.licenseopenen_US
dc.contributor.authorGOUMIDI, L.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTHIBORD, Florian
dc.contributor.authorWIGGINS, K. L.
dc.contributor.authorLI-GAO, R.
dc.contributor.authorBROWN, M. R.
dc.contributor.authorVAN HYLCKAMA VLIEG, A.
dc.contributor.authorSOUTO, J. C.
dc.contributor.authorSORIA, J. M.
dc.contributor.authorIBRAHIM-KOSTA, M.
dc.contributor.authorSAUT, N.
dc.contributor.authorDAIAN-BACQ, D.
dc.contributor.authorOLASO, R.
dc.contributor.authorAMOUYEL, Philippe
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorBOLAND, A.
dc.contributor.authorBAILLY, P.
dc.contributor.authorMORRISON, A.
dc.contributor.authorMOOK-KANAMORI, D. O.
dc.contributor.authorDELEUZE, J. F.
dc.contributor.authorJOHNSON, A. D.
dc.contributor.authorDE VRIES, P. S.
dc.contributor.authorSABATER-LLEAL, M.
dc.contributor.authorCHIARONI, J.
dc.contributor.authorSMITH, N. L.
dc.contributor.authorROSENDAAL, F. R.
dc.contributor.authorCHASMAN, D. I.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorMORANGE, P. E.
dc.date.accessioned2021-03-16T14:38:56Z
dc.date.available2021-03-16T14:38:56Z
dc.date.issued2020-12-22
dc.identifier.issn1528-0020 (Electronic) 0006-4971 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/26694
dc.description.abstractEnGenetic risk score (GRS) analysis is an increasingly popular approach to derive individual risk prediction models for complex diseases. In the context of venous thrombosis (VT), any GRS shall integrate information at the ABO blood group locus, the latter being one of the major susceptibility locus for this disease. However, there is yet no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when one is interested in properly assessing the association of ABO locus with VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in up to 5,425 cases and 8,445 controls from 6 studies, we demonstrated that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal as 5% of rs8176719-delG carriers are not exposed at higher VT risk. Instead, we recommend to use 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B) and rs41302905 (O2) in any analysis aimed at assessing the impact of ABO locus on VT risk to avoid any risk misestimation. Compared to O1 haplotype that can be inferred from these 4 SNPs, the A2 haplotype is associated with a modest increase in VT risk (odds ratio ~1.2), A1 and B haplotypes are associated with a ~1.8 fold increased risk while O2 tend to be slightly protective (odds ratio ~0.80). In addition, our analyses clearly showed that while the A1 an B blood group are associated with increased vWF and FVIII plasma levels only the A1 blood group is associated wih ICAM plasma levels but in an opposite direction, leaving additional avenues to be explored in order to fully understand the whole spectrum of biological effect of ABO locus on cardiovascular traits.
dc.language.isoENen_US
dc.title.enAssociation of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation
dc.title.alternativeBlooden_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1182/blood.2020008997en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed33512453en_US
bordeaux.journalBlooden_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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