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Updated: May 31, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
[Analysis of vWF gene A1381T polymorphism in patients with coronary heart disease]
Zhong-Hai Yuan1, Yi-Ju Hou, Yan Li
1Section of Blood Examination, Department of Medical Laboratory Examination, Jilin Medical and Pharmaceutical College, Jilin 132013, Jilin Province, China. yuanzhonghai2005@yahoo.com.cn
Insights
This study found no link between the von Willebrand Factor (vWF) gene A1381T polymorphism and coronary heart disease (CHD) susceptibility. However, elevated plasma vWF levels were observed in CHD patients, particularly with the AG genotype.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Context:
- Coronary heart disease (CHD) is a leading cause of mortality worldwide.
- Von Willebrand Factor (vWF) plays a crucial role in hemostasis and thrombosis.
- Genetic variations, such as the vWF gene A1381T polymorphism, are investigated for their potential role in CHD pathogenesis.
Purpose:
- To investigate the association between the vWF gene A1381T polymorphism and coronary heart disease (CHD).
- To analyze plasma vWF levels in relation to vWF gene A1381T polymorphism and ABO blood groups in CHD patients and controls.
Summary:
- A case-control study involving 104 CHD patients and 96 controls examined the vWF gene A1381T polymorphism and plasma vWF levels.
- No significant correlation was found between the vWF gene A1381T polymorphism and CHD susceptibility.
- Plasma vWF levels were significantly higher in CHD patients compared to controls, with higher levels observed in the AG genotype within the CHD group.
Impact:
- This research clarifies that the vWF A1381T polymorphism is not a direct risk factor for CHD.
- Findings highlight elevated plasma vWF levels as a characteristic of CHD, potentially influenced by genotype and blood group interactions.
- Further research into the functional impact of A1381T polymorphism on vWF expression and activity is warranted.
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.
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