Analysis of vWF gene A1381T polymorphism in patients with coronary heart disease / 中国实验血液学杂志

ABSTRACT

This study was purposed to investigate the vWF gene A1381T polymorphism in patients with coronary heart disease (CHD). A case-control study was designed, including 104 continuously hospitalized patients with CHD, aging from 40 to 75 years (average 59) and 96 persons underwent physical examination in outpatient department as controls, aging from 39 to 70 years (average 56). The plasma vWF Ag level of CHD patients and control persons was detected by ILISA. vWF gene A1381T polymorphism was analyzed by the polymerase chain reaction-restriction fragment length polymorphism and sequencing when it is necessary. The data were grouped by gender, blood group and/or genotype in CHD group and control groups. The difference of plasma vWF level between male and female was analyzed by independent sample t test; one way ANOVA was used to analyze the difference of vWF level between different blood group genotypes, while the factorial design ANOVA was used to test the difference of vWF level in plasma between A1381T genotype and/or ABO blood groups. χ(2) Crosstabs were used to test the CHD susceptibility. The results showed that the frequencies of GG genotype (wild type) of vWF gene A1381T polymorphism were 62.5% in CHD group and 67.7% in control group, and the frequencies of AG genotype (heterozygous variant) were 37.5% in CHD group and 32.3% in control group. χ(2) Crosstabs showed no significant correlation between vWF gene A1381T polymorphism (AG) and CHD (OR = 1.258, 95% CI = 0.702 - 2.255, χ(2) = 0.595, p = 0.440). The plasma vWF level in CHD group was statistically very higher than that in control group (p < 0.001), even though the relationship of vWF A1381T polymorphism (rs216311) and susceptibility of CHD in CHD group was not found. The plasma vWF level of AG or GG genotype was higher in CHD group than in control group (p < 0.001). The plasma vWF level of AG genotype was higher than that of GG in CHD group (p < 0.05), but not in control group. The plasma vWF of O blood group was lower than that of A, B and AB blood groups (p < 0.05), while among A, B, AB blood groups, the vWF level was not different (p > 0.05). Among O, A, B, AB blood groups in CHD group, vWF level was not different (p > 0.05). Although the two-way analysis of variance ANOVA showed no interaction of A1381T genotype and ABO blood groups on plasma vWF level, the plasma vWF level in AG mutant of vWF A1381T gene polymorphism with O blood group was higher than that of GG mutant (p = 0.023) in CHD group, not different in other blood groups. It is concluded that there is no association between vWF gene A1381T polymorphism and CHD susceptibility. The plasma vWF level in CHD group interrelated with ABO blood group and A1381T polymorphism, in which the plasma vWF level in AG genotype increase mostly. Plasma vWF level in vWF gene A1381T polymorphism with AG mutant was significantly much higher than GG mutant in CHD. This change may be beneficial to further study the effect of A1381T polymorphism on vWF gene expression and activity.