Impact of vWF gene A1381T polymorphism and ABO blood group on von Willebrand factor level in plasma / 中国实验血液学杂志

ABSTRACT

This study was aimed to investigate the impact of vWF A1381T polymorphism (rs216311) and ABO blood group on von Willebrand factor level in plasma. 120 healthy volunteers, aging from 19 to 33 years (average 24) were recruited. The vWFAg 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 A1381T gene polymorphism were significantly different from AA mutant (p = 0.032). It is concluded that plasma vWF level unrelated 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.