vWF基因A1381T多态性和ABO血型对血浆vWF水平的影响

Impact of vWF Gene A1381T Polymorphism and ABO Blood Group on von Willebrand Factor Level in Plasma

本研究旨在探讨vWF基因A1381T多态性和ABO血型对血浆vWF水平的影响。采用酶联免疫吸附法测定120名(男女各60例)19-33岁健康志愿者血浆vWF:Ag水平,采用PCR限制性酶切片段长度分析vWF基因A1381T单核苷酸多态性,测序验证。实验数据根据志愿者性别、血型或/和基因型进行分组,采用t检验、方差分析等统计学处理。结果表明:志愿者O血型与非O血型相比,血浆vWF水平明显降低(p<0.001);vWF基因A1381T多态性AA基因型与AG、GG型相比,血浆vWF水平明显降低(p=0.003和0.019);而在男性、女性之间血浆vWF水平没有统计学意义(t=1.039,p=0.301);在O血型中,A1381T的AG基因型血浆vWF水平与AA、GG基因型有显著性差异(t=2.321,p=0.028);而在非O血型中,A1381T的AG基因型血浆vWF水平与AA基因型有显著性差异(p=0.032)。结论:血浆vWF的表达水平随ABO血型和vWF基因多态性不同而有明显的不同。O血型和vWF基因A1381T多态性的AA型血浆vWF水平明显低于其他血型或基因型,这些结果对了解出血性及血栓性疾病易感性具有明确的参考意义。

This study was aimed to investigate the impact of vWF A1381T polymorphism（rs216311） and ABO blood group on yon Willebrand factor level in plasma. 120 healthy volunteers, aging from 19 to 33 years（ average 24） were recruited. The vWF：Ag level in plasma was determined by ELISA. vWF gene A1381T polymorphisms were analyzed by the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and sequenced when necessary. The data were grouped by gender, blood group and/or genotype. The difference of plasma vWF level between male and female were analyzed by independent sample t test. One way ANOVA were used to analyze the difference of vWF level in each blood group of genotype while factorial design ANOVA were used to test the difference of vWF level in plasma between A1381T genotype and/or ABO blood groups. The results showed that analysis of plasma vWF level in 120 volunteers of both male（60） and female（60） demonstrated no statistical difference（ t = 1. 039 ,p =0.301 ）. The vWF level was lower in blood type O group than that in non-O group（p 〈 0.001 ）; the plasma vWF level in AA mutant of vWF A1381T gene polymorphism was lower than that in AG and GG mutant （p = 0. 003 and 0.019, respectively）. In blood type O group, the vWF plasma level in AG mutant of vWF A1381T gene polymorphism resulted in non-difference（p =0.070） compared with AA or AG mutant, while there was significant difference in vWF of plasma level when contrast tests were applied （t = 2.321 and p = 0.028, respectively）. In non-O group, the plasma vWF level in AG mutant of vWF A1381 T gene polymorphism were significantly different from AA mutant （p = 0. 032 ）. It is concluded that plasma vWF level unrelates with gender but interrelates with ABO blood groups. Plasma vWF level in vWF gene A1381T polymorphism with AA mutant is significantly lower than that with AG and GG mutant. In blood type O group, plasma vWF level in vWF gene A1381T polymorphism with AG mutant is higher than that with AA and GG mutant. In non - O group, the vWF plasma level in A1381T gene polymorphism with AG mutant is significantly higher than that with AA mutant. This change may be beneficial to understand some diseases, especially cardio-cerebral vascular diseases.