title: Relationship between endothelial cell protein C receptor gene 6936A/G polymorphisms and deep venous thrombosis.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  EPCR gene 6936A/G polymorphism is associated with increased plasma levels of sEPCR. Subjects carrying 6936AG likely have an increased risk of thrombosis.
authors.affiliation: Department of Vascular Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China. zheyiyuancn@yahoo.com.cn
authors.forename: Xu-Dong
authors.initials: XD
authors.lastname: Chen
authors.forename: Lu
authors.initials: L
authors.lastname: Tian
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Jin
authors.forename: Hong-Kun
authors.initials: HK
authors.lastname: Zhang
authors.forename: Cheng-Fei
authors.initials: CF
authors.lastname: Zheng
mesh_terms: D001779:Blood Coagulation Factors / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D001779:Blood Coagulation Factors; D011956:Receptors, Cell Surface; C091963:activated protein C receptor