Venous thromboembolism (VTE) is a common, yet complex disorder. Genetic factors have been suggested to play a role in disease development. We, therefore, conducted a case-control study to examine the potential association of the 6936A/G polymorphism in the endothelial cell protein C receptor (EPCR) gene with the occurrence of venous thromboembolism. We measured the plasma levels of soluble EPCR (sEPCR) in blood samples collected from 112 patients with VTE and 112 age-and gender-matched healthy donors using enzyme-linked immunosorbent assay (ELISA) and amplified the EPCR gene product by PCR. Gene product bands were sequenced to identify EPCR gene polymorphisms. We found that the 6936 AG and GG genotypes were over-represented in the VTE patients. By multivariate analysis, subjects carrying the 6936 G allele were found to have an increased risk of thrombosis (OR=1.784; 95% CI, 1.113-2.891; P<0.05). In conclusion, the EPCR gene 6936A/G polymorphism, which is associated with elevated plasma sEPCR levels, is a potential candidate risk factor for venous thromboembolism.

Abstract. We designed a case-control study to determine the plasma homocysteine (Hcy) level and evaluate the potential role of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in colorectal cancer (CRC). Total Hcy was quantified using the fluorescence polarization immunoassay (FPIA) on the IMx analyzer. Genomic DNA was analyzed by the real-time polymerase chain reaction (RT-PCR). The plasma levels of Hcy in the CRC group (12.63±3.11 µmol/l) were significantly higher compared with those in the control group (10.87±2.42 µmol/l; P<0.05). The frequency of the MTHFR 677TT genotype in CRC patients was markedly high. The MTHFR 677TT genotype was significantly correlated with an increased risk of CRC (odds ratio, 1.671; 95% confidence interval, 1.094-2.553; P=0.018). This study suggests that the MTHFR C677T polymorphism indicates susceptibility to CRC and is correlated with CRC pathogenesis, suggesting that the homozygous variant MTHFR C677T polymorphism is a candidate risk factor for CRC.

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