Relationship between endothelial cell protein C receptor gene 6936A/G polymorphisms and deep venous thrombosis / 中华医学杂志(英文版)

ABSTRACT

<p><b>BACKGROUND</b>Deep venous thrombosis (DVT) can result in pulmonary embolism, a fatal complication that is due to the dislodgement and movement of a blood clot (thrombus) from a limb into the lungs. Genetic risk factors related to DVT development include mutations in coagulation proteins, especially the endothelial protein C receptor (EPCR), a component of the anticoagulation protein C (PC) pathway. The objective of the present study was to analyze the relationship between the 6936A/G polymorphism in the EPCR gene and the occurrence of DVT.</p><p><b>METHODS</b>This study involved 65 patients with DVT and 71 age- and gender-matched healthy controls. Peripheral blood samples were collected from all subjects. Plasma levels of soluble EPCR (sEPCR) were measured by enzyme-linked immunosorbent assay. Genomic DNA was extracted and EPCR gene product was amplified by a standard PCR reaction. Gene product bands were sequenced to identify EPCR gene polymorphisms.</p><p><b>RESULTS</b>In the control group, the level of sEPCR in subjects with 6936AG genotype was significantly higher than that in subjects with 6936AA genotype ((0.97 ± 0.32) pg/ml vs. (0.61 ± 0.24) pg/ml, P < 0.01). Similarly in the DVT group, the level of sEPCR in subjects with the 6936AG were greater than that in subjects with the 6936AA genotype ((0.87 ± 0.21) pg/ml vs. (0.50 ± 0.18) pg/ml, P < 0.01). The sEPCR level in DVT patients was significantly higher than that in healthy controls ((0.68 ± 0.32) pg/ml vs. (0.54 ± 0.22) pg/ml, P < 0.05). The 6936AG genotype frequency in DVT patients was significantly higher than that in healthy controls (P < 0.05). In contrast, the 6936AA genotype frequency in DVT patients was lower than that in healthy controls (P < 0.05). Subjects carrying 6936AG had an increased risk of thrombosis (OR = 2.75, 95%CI 1.04 - 7.30, P < 0.05).</p><p><b>CONCLUSIONS</b>EPCR gene 6936A/G polymorphism is associated with increased plasma levels of sEPCR. Subjects carrying 6936AG likely have an increased risk of thrombosis.</p>