Association studies between -1185A/G von Willebrand factor gene polymorphism and coronary artery disease

Abstract

High levels of von Willebrand factor (vWF) have been associated with cardiovascular disease. The A allele of the -1185A/G polymorphism in the 5'-regulatory region of the vWF gene was associated with the highest plasma vWF levels in a normal population. To examine the association between -1185A/G polymorphism and coronary artery disease (CAD), 173 Brazilian Caucasian subjects submitted to coronary angiography were studied. Of these, 57 (33%) had normal coronary arteries (control group) and 116 (67%) had CAD (patient group). Plasma vWF levels were higher in patients (145 U/dl) than in controls (130 U/dl), but the differences were significant only for O blood group subjects. Polymerase chain reaction amplification of the 864-bp vWF promoter region followed by AccII restriction digestion was used to identify the -1185A/G genotypes. The -1185A allele frequency was 43.1% in patients and 44.7% in controls. Allele and genotype frequencies were not significantly different between patients and controls. No association was observed between the -1185A/G genotypes and plasma vWF levels in patients or controls. These results suggest that -1185A/G polymorphism is not an independent risk factor for CAD.

Genetic determinants of von Willebrand factor levels and activity in relation to the risk of cardiovascular disease: a review

“…In patients with prevalent CHD or ischemic stroke, VWF promoter polymorphisms were not associated with plasma VWF levels [24,52,53]. In these patients CVD risk factors are frequent and may – by interacting with genes – influence the association between VWF and arterial thrombosis via the gene–environment interaction.…”

Correlation of von Willebrand factor gene polymorphism and coronary heart disease

“…The vWF gene polymorphism T/T at site A1381T markedly enhances the affinity of vWF for platelet GPIb (5). However, it is still unclear whether this polymorphism is related to susceptibility to coronary heart disease (6,7). The current study investigated the correlation between vWF gene polymorphism at site A1381T and coronary heart disease.…”

Novel Insights into Genetics of Arterial Thrombosis

“…Haplotype 1 was found to be associated with an increased risk of CAD in subjects with advanced atherosclerosis, 71 but not with MI 72 or CAD in subjects undergoing coronary angiography. 73 The CC genotype of the Sma I polymorphism was associated with higher risk for ischemic stroke, but not with MI. 68 Thr789Ala polymorphism might affect the risk for CHD in type-1 diabetic patients, 69 , but not in type-2 diabetes, 70 through modulation of the plasma vWF level.…”