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

<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>

Relationship between endothelial protein C receptor gene 6936A/G polymorphisms and deep venous thrombosis / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between endothelial protein C receptor(EPCR) gene 6936A/G polymorphism and deep vein thrombosis (DVT).</p><p><b>METHODS</b>The study group included 65 DVT patients and 71 normal controls. Plasma sEPCR was measured by ELISA. Genomic DNA was extracted by using Genomic Purification Kit. A 315bp EPCR product was amplified by a standard PCR reaction, and the bands were confirmed by direct sequencing after purification.</p><p><b>RESULTS</b>(1) sEPCR levels in healthy controls with 6936AG genotype were significantly higher than that in those with 6936AA genotype \[(0.97 ± 0.32) ng/L vs (0.61 ± 0.24) ng/L, P < 0.01)\], and so did in DVT patients \[(0.87 ± 0.21) ng/L vs (0.50 ± 0.18) ng/L, P < 0.01\]. (2) The sEPCR levels of DVT patients \[(0.68 ± 0.32) ng/L\] were significantly higher than that of healthy controls \[(0.54 ± 0.22) ng/L\](P < 0.05). (3) The distribution of 6936A/G genotype was higher in DVT patients than in healthy controls (P < 0.05). (4) Subjects with 6936A/G 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 sEPCR levels. The sEPCR levels in DVT patients were significantly higher than that in healthy controls. The subject with 6936AG likely had an increased risk of thrombosis.</p>