Marchetti Giovanna, Lunghi Barbara, Legnani Cristina, Cini Michela, Pinotti Mirko, Mascoli Francesco, Bernard Francesco
Department of Biochemistry and Molecular Biology, University of Ferrara, via Fossato di Mortara n 74, I-44100 Ferrara, Italy.
Haematologica. 2006 Sep;91(9):1261-3.
The contribution of low density lipoprotein (LDL) receptor-related protein (LRP) to variance of factor VIII (FVIII) levels in plasma was investigated in thrombotic women through analysis of frequent LRP genotypes. The G allele of the LRP -25C/G polymorphism, predicting increased LRP expression, was associated with 15% and 18% mean reductions of FVIII activity and protein levels, respectively. The combination of -25C/G LRP polymorphism with FVIII D1241E and ABO polymorphisms produced a gradient of FVIII levels, thus supporting the notion that several factors, acting in FVIII biosynthesis, post-translational modification and removal from circulation, have additive effects on the variance of FVIII levels in plasma.
通过分析常见的低密度脂蛋白（LDL）受体相关蛋白（LRP）基因型，研究了LRP对血栓形成女性血浆中凝血因子VIII（FVIII）水平变异的影响。LRP -25C/G多态性的G等位基因可预测LRP表达增加，分别与FVIII活性和蛋白水平平均降低15%和18%相关。-25C/G LRP多态性与FVIII D1241E和ABO多态性的组合产生了FVIII水平梯度，从而支持了以下观点：在FVIII生物合成、翻译后修饰和从循环中清除过程中起作用的几个因素，对血浆中FVIII水平的变异具有累加效应。
