To investigate the correlation between single nucleotide polymorphism (SNP) in THBD rs1042579 and rs3176123 sites of the thrombomodulin (TM) and the risk for pulmonary embolism.

Totally 100 patients with pulmonary embolism (pulmonary embolism group) and 100 healthy volunteers (control group) were enrolled in this study. Their genomic DNA was extracted. A high resolution melting test was used to determine the polymorphism of rs1042579 and rs3176123 sites in the THBD gene. The level of soluble TM (sTM) and the distribution of rs1042579 and rs3176123 genotypes were compared between the two groups. The correlation between genotypes and alleles in rs1042579 and rs3176123 sites and the risk of pulmonary embolism was analyzed by Logistic regression.

The level of sTM in the pulmonary embolism group was higher than that in the control group [(592 ± 372) μg/L vs. (480 ± 250) μg/L, t= 2.487, P= 0.014]. The genotype distribution of rs1042579 (CC/CT/TT) [57/39/4 vs. 85/15/0, χ² = 20.188, P < 0.001] and rs3176123 (AA/AC/CC) [47/37/16 vs. 72/21/7, χ²= 13.188, P= 0.001] showed significant differences between the pulmonary embolism group and control group. The genotype CT [odds ratio (OR)= 2.600, 95% confidence interval (CI) (1.535, 4.404), P < 0.001] and allele T [OR= 3.133, 95%CI (1.813, 5.416), P < 0.001] of rs1042579 site were risk factors for pulmonary embolism, while the genotype CC [OR= 0.671, 95%CI (0.555, 0.810), P < 0.001] and allele C [OR= 0.827, 95%CI (0.759, 0.902), P < 0.001] were its protective factors. The genotype AC [OR= 1.762, 95%CI (1.114, 2.786), P= 0.013] and allele C [OR= 1.260, 95%CI (1.118, 1.419), P < 0.001] of rs3176123 site were risk factors for pulmonary embolism, while the genotype AA [OR= 0.653, 95%CI (0.513, 0.831), P < 0.001] and allele A [OR= 0.507, 95%CI (0.355, 0.724), P < 0.001] were its protective factors.

The genotype CT and allele T of rs1042579 site and the genotype AC and allele C of rs3176123 site in the THBD gene of Chinese population are risk factors for pulmonary embolism.