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Abstract
Endothelial cell protein C receptor (EPCR) enhances the generation of activated protein C (APC) by the thrombin - thrombomodulin complex. A soluble form of EPCR (sEPCR), which is generated by metalloprotease activity, is present in plasma. Two polymorphisms in the EPCR gene (6936A / G and 4678G / C) have been reported to influence the risk of venous thromboembolism (VTE). We aimed to investigate the relation of EPCR gene polymorphisms (6936 A / G and 4678 C / G) and DVT and their relations to sEPCR in Egyptian population. This study involved 90 patients with DVT and 90 age and sex matched healthy controls. Plasma levels of soluble EPCR (sEPCR) were measured in 45 cases of the primary DVT by ELISA. PCR - RFLP was used for detection of EPCR polymorphisms (6936A / G and 4678G/C). Regarding 6936A / G, the mutant genotypes (AG, GG) was associated with increased risk for DVT (P value < 0.001, OR = 4.125, 95% CI = 2.198 - 7.740) as well as its mutant allele G (P value < 0.001, OR = 2.549, 95% CI = 1.601 - 4.061). The mutant genotypes was associated with increased levels of sEPCR P value < 0.001