Anticoagulant protein C p.Lys193del mutation and promoter region polymorphisms :common genetic risk factors of deep venous thrombosis in Chinese population

Abstract

Abstract Background: Deep venous thrombosis (DVT) is a common condition that is fatal and has a high occurrence. The aim of this study was to examine the prevalence of anticoagulant protein C (PC) mutation p.Lys193del and promoter polymorphisms in patients with DVT in China. Methods: 180 subjects with venous thrombosis and 103 normal controls were tested for PC activity and subjected to PCR to amply PROC two regions for genetic analyses for PROC promoter polymorphisms and the p.Lys193del mutation, respectively. Results: PC activity in the deep venous thrombosis patients was 65.52±25.94, and 111.70±19.98 for the normal control population (P<0.05). Through we found 13 cases of p.Lys193del mutation in the DTV patients, with a positive rate of 7.2%, while in normal controls we detected 1 heterozygous mutation of p.Lys193del, and a positive rate of only 0.97%. This difference in mutation frequency was statistically significantly different between the two group (P<0.05). In the PROC promoter region, the distribution of alleles -1654 C,-1641 G, -1476 T in deep venous thrombosis patients and normal controls was significantly different (P<0.05). The genotype homozygous for the -1654C/C, -1641gG/G, -1476T/T, difference frequencies between the two groups was statistically significant (P<0.05). Conclusions: PROC gene p.Lys193del mutation accounts for about 7.2% of the incidence of venous thrombosis in Chinese people. The genotype homozygous for the -1654C/C, -1641gG/G, -1476T/T, can also be considered a risk factor of DVT in Chinese People.