Correlation of three common variation loci in von Willebrand factor gene and pulmonary thromboembolism disease

Abstract

To elucidate the relationship between three common variation loci of von Willebrand factor (VWF) gene (rs216321, rs216325 and rs1800378) and pulmonary thromboembolism. A total of 95 patients with definite pulmonary thromboembolism (PTE) at Beijing Chaoyang Hospital and Beijing Hospital during November 2008 to March 2012 served as PTE group while 90 healthy subjects at Beijing Hospital during the same period as control group. Fasting venous blood samples were collected for extracting genomic DNA. Three common variation loci with single nucleotide polymorphism were rs216321 (T/C), rs216325 (G/A) and rs1800378 (T/C) and their minor allele frequency was over 0.05 in VWF gene. The method of polymerase chain reaction (PCR)-Sanger was employed for sequencing. The differences of alleleic and genotypic frequencies between PTE and control groups were compared for each locus. And the correlations of their haplotypes with PTE were analyzed. The distributions of rs216325 (G/A) and rs1800378 (T/C) in VWF gene had significant difference between PTE and control groups (P=0.039, 0.006). And rs216325 with genotype AA was positively correlated with PTE occurrence (r=1.914, P=0.047). And rs1800378 with genotype TT was also positively correlated with PTE occurrence (r=0.282, P=0.008). The distributions of haplotype TGT had significant differences between PTE and control groups. This haplotype was positively correlated with PTE occurrence (r=0.239, P<0.001). The rs216325 and rs1800378 loci variations in VWF gene are associated with PTE, rs216325 with genotype AA and rs1800378 with genotype TT. And haplotype TGT indicates a high risk of PTE onset.