Abstract
The <i>von Willebrand Factor</i> (<i>vWF</i>) gene located on Chromosome 12 spans ~ 180 kilobases with 52 exons. Changes in the <i>vWF</i> gene could alter VWF biosynthesis, secretion, clearance, and adhesion activity. Single nucleotide polymorphisms (SNPs) in exons, 5′ regulatory region, and introns are also reported to influence levels of vWF in healthy subjects. Some of these vWF SNPs are associated with an elevated risk for thrombosis and may be causally associated with coronary heart disease. The objective of this work was to detect the association between-1185A/G <i>vWF</i> gene polymorphism and CHD in Gaza strip. We conducted case-control study included 126 samples comprised 85 CHD patients and 41 control subjects. Questionnaire interview was applied. Blood samples were collected in EDTA tube for ABO blood grouping and DNA extraction. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) use to detect – 1185A/G polymorphism. The <i>vWF</i> -1185A/G genotype was the most common in the control and the CHD groups. The frequencies of <i>vWF -1185</i> alleles in the CHD subjects were 0.541 for <i>A</i> and 0.459 for <i>G</i>. These frequencies are comparable to those found in the control group which were 0.622 for <i>A</i> and 0.378 for <i>G</i>. No statistically significant differences in <i>vWF-1185</i> genotypes were found between the patients and the control groups. Moreover, there was no significant difference between the <i>vWF-1185</i> polymorphism: gender, blood group, hypertension and diabetic in case and controls. However, there was a significant difference between the CHD: age, physical activity and education. To our knowledge, this is the first study in Gaza Strip investigating the relation between <i>vWF</i>-1185 <i>A/G</i> polymorphism and CHD. Further investigations are needed to link other genetic factors to CHD.
Highlights
Introduction vonWillebrand factor is a large adhesive glycoprotein synthesized by endothelial cells and megakaryocytes that circulates in the plasma as a series of heterogeneous multimers [1,2,3]
The present study focused on detection of -1185A/G von Willebrand Factor (vWF) genotypes in Gaza Strip and the relationship between those genotypes and Coronary heart disease (CHD) as compared to healthy subjects
No statistically significant differences in -1185A/G vWF genotypes were found between the patients and the control groups
Summary
Willebrand factor (vWF) is a large adhesive glycoprotein synthesized by endothelial cells and megakaryocytes that circulates in the plasma as a series of heterogeneous multimers [1,2,3]. It enhances hemostasis and thrombosis as an important cofactor in platelet adhesion and aggregation, and acts as the carrier protein for coagulation factor VIII [4]. The vWF gene spans ~178kb on short arm of chromosome 12 and includes 52 exons. Exon 18 encodes the first 51 amino acids of vWF Ddomain which is involved in VWF multimerisation and binding of factor VIII. Exon 18 has the highest frequency of mutation per nucleotide among the 52 exons of the vWF gene (Figure 1)
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