Biological and genetic factors influencing plasma factor VIII levels in a healthy family population: results from the Stanislas cohort.
Fiche publication
Date publication
janvier 2005
Auteurs
Membres identifiés du Cancéropôle Est :
Dr VISVIKIS Sophie
Tous les auteurs :
Morange PE, Tregouet DA, Frere C, Saut N, Pellegrina L, Alessi MC, Visvikis S, Tiret L, Juhan-Vague I
Lien Pubmed
Résumé
The mechanisms underlying the variability of factor VIII (FVIII) levels are, still poorly understood. The only receptor of FVIII identified so far is the lipoprotein receptor-related protein (LRP), which is thought to be involved in FVIII degradation. We aimed to characterize biological and genetic factors related to FVIII variability, focusing on coding polymorphisms of the LRP gene and polymorphisms potentially detected by molecular screening of the LRP-binding domains of the FVIII gene. Plasma FVIII coagulant activity (FVIII:C) and von Willebrand factor (VWF:Ag) antigen levels were measured in a sample of 100 healthy nuclear families (200 parents and 224 offspring). The ABO blood group and the three coding polymorphisms of the LRP gene (A217V, D2080N and C766T) were genotyped. Lipids and anthropometric factors poorly contributed to the variability of FVIII:C (
Référence
Br J Haematol. 2005 Jan;128(1):91-9.