scholarly journals Coagulation factor V gene 1691G>A polymorphism as an indicator for risk and prognosis of lower extremity deep venous thrombosis in Chinese Han population

Medicine ◽  
2018 ◽  
Vol 97 (22) ◽  
pp. e10885
Author(s):  
Chang-Lie Zhang ◽  
Zun-Min Li ◽  
Zhi-Hong Song ◽  
Tao Song
2003 ◽  
Vol 89 (03) ◽  
pp. 446-451 ◽  
Author(s):  
Hu Yanqing ◽  
Xie Qinzhi ◽  
Jian Zaifu ◽  
Wang Guangping ◽  
Zuo Xiaoxia ◽  
...  

SummaryActivated protein C resistance (APCR) is the most common hereditary condition of thrombosis in Western countries. And it is significantly linked to a single nucleotide polymorphisms (SNPs) in the coagulation factor V gene that results in the mutations at R506, R306 and HR2 alleles. To determine the prevalence of APCR and its association with the factor V gene SNPs in Chinese Han thrombotic patients, we investigated a total of 346 Chinese thrombotic patients and 140 normal controls for APCR using the APTT-based assays, according to manufacturer’s instructions, APC ratio ≦2 indicated APC resistance. Mutations of factor V at R506, R306, HR2 allele were detected by PCRMnl/I, Bst/NI, Rsa/I digestion as described before respectively. The results showed that the incidence of APC resistance were 12.0% (12 of 100 cases) in acute cerebral thrombosis (ACT) patients (P <0.05), 13.5% (13 of 96 cases) in acute myocardial infarction (AMI) patients (P <0.05), 16.7% (10 of 60 cases) in deep venous thrombosis (DVT) patients (P <0.05), 15.6% (14 of 90 cases) in systemic lupus erythematosus (SLE) patients (P <0.05) and 5.0% (7 of 140 cases) in normal controls. APCR is associated with thrombotic events. But no factor V R506Q mutation (FV Leiden) was found in all 5 groups. Only one AMI patient and one DVT patient revealed heterozygous R306G mutation, which was confirmed by direct sequencing PCR products. Additionally, two SLE patients showed to be heterozygous HR2 allele for the first time in the Chinese Han population. We concluded that APC resistance in the Chinese Han population might not be associated with mutations of factor V at R506, R306 and HR2 polymorphisms. Some other factors might contribute to APC resistance in the Chinese Han population.


Author(s):  
O. Mishcheniuk ◽  
◽  
O. Kostiukevych ◽  
L. Benkovska ◽  
O. Kravchenko ◽  
...  

Thrombosis triggers, in addition to «classic» risk factors (RFs) of cardiovascular events, includes the reactive changes of peripheral blood (RCPB), markers of the hereditary thrombophilia and radiation anamnesis. However, results of most studies suggest the «classic» RFs are able to neutralize the prothrombogenic potential of the hereditary thrombophilia and other, less powerful predictors of thrombosis. Objective: to determine the influence of the G1691A allele of the proaccelerin gene carrying to the thrombosis development, taking into account the vascular type of their occurrence, the presence of RFs in individuals with RCPB (reactive leukocytosis and thrombocytosis, and secondary erythrocytosis), as well as with and without radiation anamnesis. Material and methods. In general, it was analyzed the results of clinical and molecular-genetic data of 152 patients with RCPB, 19 patients had radiation anamnesis, 133 – did not have. The thrombotic complications were detected in 5 (26.31 %) of radiation-exposer patients and 25 (18.79 %) patients without radiation anamneses. The carrying of the G1691A allele proaccelerin gene (APG) (Leiden mutation (LM)) was detected using the allele-specific polymerase chain reaction. Results. The LM was found in 5.9 % (9 carriers) of the general cohort (GC) of RPBC patients. There were no difference in the LM frequency between the groups of patients with and without radiation anamnesis (р = 0.312). In the group of radiation-exposer patients (р = 0.017), as well as in the group without its (р = 0.031), venous thromboses only were more frequently in the LM carriers. In the presence of a radiation anamnesis, G1691A APG carriers with RFs have the higher frequency (р = 0.008) and the probability of the occurrence (relative risk [RR] = 25.00; CI 95 %: 1.56–399.68) of venous thrombosis. In the group without radiation anamnesis, the frequency of venues thrombosis in the LM carriers is higher in the younger age subgroup (р = 0.001), without RFs (p = 0.044) and without RFs under 60 years (р = 0.023). The risk of venous thrombosis in the G1691A APG carriers of the group without radiation anamnesis is 5.78 (95 % CI: 1.58–21.13). In LM carriers without radiation anamnesis and RFs, as well as under the 60 years of age, the probability of venous thrombosis was 6.85 (95 % CI: 1.86–25.22) and 19.40 (95 % CI: 4.64–81.09), respectively, and in the absence of both criteria – 9.57 (95 % CI: 2.49–36.73). Conclusions. In patients with and without radiation anamnesis, the risk of venues thrombosis are observed more often in carriers of LM. The carrying of the G1691A APG in patients with RPBC and without RA increased the risk of venues thrombosis development in subjects without FRs and below 60 years of age. In the radiation-exposure group, the frequency and the risk of venues thrombosis in the G1691A APG carriers was higher in the subgroup with RFs. It is probably due to the peculiarity of the samples, or prothrombogenic interaction between LM and radiation-associated endothelial damage. Key words: reactive changes of peripheral blood, the G1691A allele of the coagulation factor V gene, risk factor of thrombosis.


Rheumatology ◽  
1995 ◽  
Vol 35 (11) ◽  
pp. 1178-1180 ◽  
Author(s):  
A. GÜL ◽  
U. öZBEK ◽  
C. ÖZTÜRK ◽  
M. INANÇ ◽  
M. KONIÇE ◽  
...  

2006 ◽  
Vol 15 (2) ◽  
pp. 102-105
Author(s):  
Mehrez M. Jadaon ◽  
Ali A. Dashti ◽  
Hend L. Lewis

1991 ◽  
Vol 78 (2) ◽  
pp. 229-235 ◽  
Author(s):  
Marlene Mazzorana ◽  
Georges Baffet ◽  
Bernard Kneip ◽  
Bernard Launois ◽  
Christiane Guguen-Guillouzo

1995 ◽  
Vol 78 (3) ◽  
pp. 193-200 ◽  
Author(s):  
Maria I. Bokarewa ◽  
Katarina Bremme ◽  
Gunnar Falk ◽  
Margareta Sten-Linder ◽  
Nils Egberg ◽  
...  

1998 ◽  
Vol 13 (4) ◽  
pp. 195-198 ◽  
Author(s):  
Takafumi Seki ◽  
Hiroshi Okayama ◽  
Tomoko Kumagai ◽  
Norihisa Kumasaka ◽  
Masahito Sakuma ◽  
...  

1999 ◽  
Vol 14 (4) ◽  
pp. 357-357 ◽  
Author(s):  
H. Kostka ◽  
G. Siegert ◽  
S. Gehrisch ◽  
E. Kuhlisch ◽  
E. Runge ◽  
...  

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