Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation
Por:
Goumidi, L, Thibord, F, Wiggins, KL, Li-Gao, RF, Brown, MR, Vlieg, AV, Souto, JC, Soria, JM, Ibrahim-Kosta, M, Saut, N, Daian, D, Olaso, R, Amouyel, P, Debette, S, Boland, A, Bailly, P, Morrison, AC, Mook-Kanamori, DO, Deleuze, JF, Johnson, A, de Vries, PS, Sabater-Lleal, M, Chiaroni, J, Smith, NL, Rosendaal, FR, Chasman, DI, Tregouet, DA, Morange, PE
Publicada:
29 abr 2021
Resumen:
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 ofABOlocus 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, similar to 1.2), the A1 and B haplotypes are associated with an similar to 1.8-fold increased risk, whereas the O2 haplotype tends to be slightly protective (odds ratio, similar to 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.
Filiaciones:
Goumidi, L:
Aix Marseille Univ, Ctr Rech CardioVasc & Nutr, Inst Natl Rech Agr Alimentat & Environm INRAE, INSERM, Marseille, France
Thibord, F:
Univ Bordeaux, Bordeaux Populat Hlth Res Ctr, INSERM U1219, Bordeaux, France
Lab Excellence LabEx Genom Med, Evry, France
NIH, NHLBI, Populat Sci Branch, Framingham, MA USA
Framingham Heart Dis Epidemiol Study, Framingham, MA USA
Wiggins, KL:
Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA
Li-Gao, RF:
Leiden Univ, Dept Clin Epidemiol, Med Ctr, Leiden, Netherlands
Brown, MR:
Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Dept Epidemiol, Human Genet & Environm Sci,Sch Publ Hlth, Houston, TX 77030 USA
Vlieg, AV:
Leiden Univ, Dept Clin Epidemiol, Med Ctr, Leiden, Netherlands
Souto, JC:
St Pau Inst Biomed Res IIB St Pau, Thrombosis & Hemostasis Res Grp, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Unit Hemostasis & Thrombosis, Barcelona, Spain
Soria, JM:
IIB St Pau, Inst Recerca Hosp St Creu & St Pau, Unit Genom Complex Dis, Barcelona, Spain
Ibrahim-Kosta, M:
Aix Marseille Univ, Ctr Rech CardioVasc & Nutr, Inst Natl Rech Agr Alimentat & Environm INRAE, INSERM, Marseille, France
La Timone Univ, Hematol Lab, Hosp Marseille, Marseille, France
Saut, N:
Aix Marseille Univ, Ctr Rech CardioVasc & Nutr, Inst Natl Rech Agr Alimentat & Environm INRAE, INSERM, Marseille, France
La Timone Univ, Hematol Lab, Hosp Marseille, Marseille, France
Daian, D:
Lab Excellence LabEx Genom Med, Evry, France
Univ Paris Saclay, Ctr Natl Rech Genom Humaine, Commissariat Energie Atom, Evry, France
Olaso, R:
Lab Excellence LabEx Genom Med, Evry, France
Univ Paris Saclay, Ctr Natl Rech Genom Humaine, Commissariat Energie Atom, Evry, France
Amouyel, P:
Lille Univ, Inst Pasteur Lille,INSERM, LabEx Dev Innovat Strategies Transdisciplinary Ap, Facteurs Risque & Determinants Mol Malad Liees Vi, Lille, France
Lille Univ, Ctr Hosp Univ CHU Lille, Inst Pasteur Lille, RID AGE,INSERM, Lille, France
Debette, S:
Univ Bordeaux, Bordeaux Populat Hlth Res Ctr, INSERM U1219, Bordeaux, France
CHU Bordeaux, Dept Neurol, Bordeaux, France
Boland, A:
Lab Excellence LabEx Genom Med, Evry, France
Univ Paris Saclay, Ctr Natl Rech Genom Humaine, Commissariat Energie Atom, Evry, France
Bailly, P:
Etab Francais Sang Provence Alpes Cote dAzur Cors, Marseille, France
Aix Marseille Univ, Ctr Natl Rech Sci, Biol Groupes Sanguins, Etab Francais Sang,Anthropol Bioculturel,Eth & Sa, Marseille, France
Morrison, AC:
Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Dept Epidemiol, Human Genet & Environm Sci,Sch Publ Hlth, Houston, TX 77030 USA
Mook-Kanamori, DO:
Leiden Univ, Dept Clin Epidemiol, Med Ctr, Leiden, Netherlands
Deleuze, JF:
Lab Excellence LabEx Genom Med, Evry, France
Univ Paris Saclay, Ctr Natl Rech Genom Humaine, Commissariat Energie Atom, Evry, France
Ctr Etud Polymorphisme Humain, Fdn Jean Dausset, Paris, France
Johnson, A:
NIH, NHLBI, Populat Sci Branch, Framingham, MA USA
Framingham Heart Dis Epidemiol Study, Framingham, MA USA
de Vries, PS:
Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Dept Epidemiol, Human Genet & Environm Sci,Sch Publ Hlth, Houston, TX 77030 USA
Sabater-Lleal, M:
IIB St Pau, Hosp Santa Creu & St Pau, Res Inst, Genom Complex Dis, Barcelona, Spain
Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Med, Stockholm, Sweden
Chiaroni, J:
Etab Francais Sang Provence Alpes Cote dAzur Cors, Marseille, France
Aix Marseille Univ, Ctr Natl Rech Sci, Biol Groupes Sanguins, Etab Francais Sang,Anthropol Bioculturel,Eth & Sa, Marseille, France
Smith, NL:
Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA
Kaiser Permanente, Hlth Res Unit, Seattle, WA USA
Seattle Epidemiol Res & Informat Ctr, Dept Vet Affairs, Off Res & Dev, Seattle, WA USA
Rosendaal, FR:
Leiden Univ, Dept Clin Epidemiol, Med Ctr, Leiden, Netherlands
Chasman, DI:
Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Tregouet, DA:
Univ Bordeaux, Bordeaux Populat Hlth Res Ctr, INSERM U1219, Bordeaux, France
Lab Excellence LabEx Genom Med, Evry, France
Morange, PE:
Aix Marseille Univ, Ctr Rech CardioVasc & Nutr, Inst Natl Rech Agr Alimentat & Environm INRAE, INSERM, Marseille, France
Lab Excellence LabEx Genom Med, Evry, France
La Timone Univ, Hematol Lab, Hosp Marseille, Marseille, France
Bronze, Green Published
|