Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors.
FVIII receptors
factor VIII
haemophilia A
pharmacogenomics
pharmacokinetic
Journal
Haemophilia : the official journal of the World Federation of Hemophilia
ISSN: 1365-2516
Titre abrégé: Haemophilia
Pays: England
ID NLM: 9442916
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
revised:
18
11
2022
received:
11
08
2022
accepted:
29
11
2022
pubmed:
20
12
2022
medline:
21
3
2023
entrez:
19
12
2022
Statut:
ppublish
Résumé
Gene variation in receptors for circulating factor VIII (FVIII) is candidate to explain the large inter-patient variability of infused FVIII pharmacokinetics (PK) in haemophilia A (HA). To compare in an Italian HA cohort (n = 26) the influence on FVIII PK of genetic components in four von Willebrand factor (VWF)/FVIII receptors. Genotypes of low-density lipoprotein receptor (LDLR), asialoglycoprotein receptor minor subunit (ASGR2), family 4 member M (CLEC4M), stabilin2 (STAB2) and ABO blood-group, and VWF:Ag levels were included as independent variables in linear regression analyses of two-compartment model (TCM) - standard half-life (SHL) FVIII PK parameters. In the initial FVIII distribution phase, the STAB2 rs4981022 AA, ASGR2 rs2289645 TT and LDLR rs688 TT genotypes may contribute to increase C With the limitation of the small number of HA patients, these observations highlight multiple genetic components acting in distinct phases of FVIII PK and contributing to explain FVIII PK variability. This analysis provides candidates for genotype-based, individual tailoring of FVIII substitutive treatment.
Substances chimiques
Factor VIII
9001-27-8
von Willebrand Factor
0
factor VIII receptor
0
Hemostatics
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
479-487Subventions
Organisme : Bayer Hemophilia Awards Program, the Italian Medicines Agency, and Università degli Studi di Ferrara
ID : MRAR08T001
Informations de copyright
© 2022 John Wiley & Sons Ltd.
Références
Vlot AJ, Mauser-Bunschoten EP, Zarkova AG, et al. The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A. Thromb Haemost. 2000;83(1):65-69.
Morange PE, Tregouet DA, Frere C, et al. Biological and genetic factors influencing plasma factor VIII levels in a healthy family population: results from the Stanislas cohort. Br J Haematol. 2005;128(1):91-99.
van Dijk K, van der Bom JG, Lenting PJ, et al. Factor VIII half-life and clinical phenotype of severe hemophilia A. Haematologica. 2005;90(4):494-498.
Björkman S, Blanchette VS, Fischer K, et al. Comparative pharmacokinetics of plasma- and albumin-free recombinant factor VIII in children and adults: the influence of blood sampling schedule on observed age-related differences and implications for dose tailoring. J Thromb Haemost. 2010;8(4):730-736.
Collins PW, Björkman S, Fischer K, et al. Factor VIII requirement to maintain a target plasma level in the prophylactic treatment of severe hemophilia A: influences of variance in pharmacokinetics and treatment regimens. J Thromb Haemost. 2010;8(2):269-275.
Branchini A, Morfini M, Lunghi B, et al. F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes. J Thromb Haemost. 2022;20(1):69-81.
Kepa S, Horvath B, Reitter-Pfoertner S, et al. Parameters influencing FVIII pharmacokinetics in patients with severe and moderate haemophilia A. Haemophilia. 2015;21(3):343-350.
Lunghi B, Bernardi F, Martinelli N, et al. Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates. J Thromb Haemost. 2019;17(8):1288-1296.
Lunghi B, Morfini M, Martinelli N, et al. The asialoglycoprotein receptor minor subunit gene contributes to pharmacokinetics of factor VIII concentrates in hemophilia A. Thromb Haemost. 2022;122(5):715-725.
Turecek PL, Johnsen JM, Pipe SW, et al. Biological mechanisms underlying inter-individual variation in factor VIII clearance in haemophilia. Haemophilia. 2020;26(4):575-583.
Stockert RJ. The asialoglycoprotein receptor: relationships between structure, function, and expression. Physiol Rev. 1995;75(3):591-609.
Rahimi N. C-type lectin CD209L/L-SIGN and CD209/DC-SIGN: cell adhesion molecules turned to pathogen recognition receptors. Biology (Basel). 2020;10(1):1.
Jeon H, Blacklow SC. Structure and physiologic function of the low-density lipoprotein receptor. Annu Rev Biochem. 2005;74:535-562.
Weigel PH. Systemic glycosaminoglycan clearance by HARE/Stabilin-2 activates intracellular signaling. Cells. 2020;9(11):E2366.
Swystun LL, Ogiwara K, Rawley O, et al. Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients. Blood. 2019;134(11):880-891.
Garcia-Martínez I, Borràs N, Martorell M, et al. Common genetic variants in ABO and CLEC4M modulate the pharmacokinetics of recombinant FVIII in severe hemophilia A patients. Thromb Haemost. 2020;120(10):1395-1406.
Ogiwara K, Swystun LL, Paine AS, et al. Factor VIII pharmacokinetics associates with genetic modifiers of VWF and FVIII clearance in an adult hemophilia A population. J Thromb Haemost. 2021;19(3):654-663.
Lunghi B, Morfini M, Martinelli N, et al. Combination of CLEC4M rs868875 G-carriership and ABO O genotypes may predict faster decay of FVIII infused in hemophilia A patients. J Clin Med. 2022;11(3):733.
Martinelli N, Girelli D, Lunghi B, et al. Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile. Blood. 2010;116(25):5688-5697.
Smith NL, Chen M-H, Dehghan A, et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: the CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) consortium. Circulation. 2010;121(12):1382-1392.
Tang W, Cushman M, Green D, et al. Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans. Am J Hematol. 2015;90(6):534-540.
Sabater-Lleal M, Huffman JE, de Vries PS, et al. Genome-wide association transethnic meta-analyses identifies novel associations regulating coagulation factor VIII and von Willebrand factor plasma levels. Circulation. 2019;139(5):620-635.
Björkman S. Evaluation of the TCIWorks Bayesian computer program for estimation of individual pharmacokinetics of FVIII. Haemophilia. 2011;17(1):e239-240.
Astermark J, Olsson A, Chelle P, et al. Comparison of single subject and population-based pharmacokinetics for optimizing prophylaxis with simoctocog alfa in patients with haemophilia A. Haemophilia. 2021;27(4):626-633.
Chittenden J. Population pharmacokinetic models. In: Comparative Pharmacokinetics. John Wiley & Sons, Ltd; 2011:347-378.
Rigopoulou EI, Roggenbuck D, Smyk DS, et al. Asialoglycoprotein receptor (ASGPR) as target autoantigen in liver autoimmunity: lost and found. Autoimmun Rev. 2012;12(2):260-269.
Politz O, Gratchev A, McCourt PAG, et al. Stabilin-1 and -2 constitute a novel family of fasciclin-like hyaluronan receptor homologues. Biochem J. 2002;362:155-164.
Kurasawa JH, Shestopal SA, Karnaukhova E, et al. Mapping the binding region on the low density lipoprotein receptor for blood coagulation factor VIII. J Biol Chem. 2013; 288(30): 22033-22041.
Zelensky AN, Gready JE. The C-type lectin-like domain superfamily. FEBS J. 2005;272(24):6179-6217.
Lai JD, Swystun LL, Cartier D, et al. N-linked glycosylation modulates the immunogenicity of recombinant human factor VIII in hemophilia A mice. Haematologica. 2018;103(11):1925-1936.
Qu J, Ma C, Xu X-Q, et al. Comparative glycosylation mapping of plasma-derived and recombinant human factor VIII. PLoS One. 2020;15(5):e0233576.
Canis K, McKinnon TAJ, Nowak A, et al. Mapping the N-glycome of human von Willebrand factor. Biochem J. 2012;447(2):217-228.
Gashash EA, Aloor A, Li D, et al. An insight into glyco-microheterogeneity of plasma von Willebrand factor by mass spectrometry. J Proteome Res. 2017;16(9):3348-3362.
Cinotti S, Paladino E, Morfini M. Accuracy of FVIII: c assay by one-stage method can be improved using hemophilic plasma as diluent. J Thromb Haemost. 2006;4(4):828-833.
Castaman G, Tosetto A, Cappelletti A, et al. Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD. Thromb Res. 2010;126(3):227-231.
Ward SE, O'Sullivan JM, O'Donnell JS. The relationship between ABO blood group, von Willebrand factor, and primary hemostasis. Blood. 2020;136(25):2864-2874.
Zhu J, Wu YS, Beechinor RJ, et al. Pharmacokinetics of perioperative FVIII in adult patients with haemophilia A: an external validation and development of an alternative population pharmacokinetic model. Haemophilia. 2021;27(6):974-983.
Collins PW. Personalized prophylaxis. Haemophilia. 2012;18 suppl 4:131-135.
Dargaud Y, Delavenne X, Hart DP, et al. Individualized PK-based prophylaxis in severe haemophilia. Haemophilia. 2018;24 suppl 2:3-17.
Mannucci PM, Cortesi PA, Di Minno MND, et al. Comparative analysis of the pivotal studies of extended half-life recombinant FVIII products for treatment of haemophilia A. Haemophilia. 2021;27(4):e422-33.
Song J, Xue C, Preisser JS, et al. Association of single nucleotide polymorphisms in the ST3GAL4 gene with VWF antigen and factor VIII activity. PLoS One. 2016;11(9):e0160757.
Swystun LL, Ogiwara K, Lai JD, et al. The scavenger receptor SCARA5 is an endocytic receptor for von Willebrand factor expressed by littoral cells in the human spleen. J Thromb Haemost. 2019;17(8):1384-1396.