Prevalence of FXII C46T gene polymorphism and its association with thrombosis in patients presented with thrombosis

Introduction: Thrombosis, which is identified as the disequilibrium between procoagulan and anticoagulan systems by a factor such hereditary or acquired, rises symptoms by its localisation, and is one of the most important causes of morbidity and mortality. Hereditary thrombophilias may be manifested by recurrent thrombotic attacks in abnormal localisation in early ages. As it is well known that APC resistance, protein C and protein S deficiencies, factor V leiden mutations and prothrombine gene mutations are the former identified causes of thrombosis, in recent studies, new mutations were recognized. The FXII C46 gene polmymorphism is one of these mutations that no clear consensus has been clarified the role of it in the pathogenesis and etiology of thrombosis. Purpose:In our study, we aim to evaluate the prevalence of FXII C46T gene polymorphism and its association with thrombosis in patients presented with thrombosis at early ages. 50 patients (21M/29 F) under 50 years of age with history of thrombosis(Portal vein thrombosis, pulmoner emboli, myocard infarction, ischemic stroke, deep venous thrombosis) and previously studied FXII C46T gen polmorphisms. 50 controls which has no history of thrombosis and healthy were included. The prevalence of FXII C46T gene polymorphism was studied by PCR in both groups. Results:The prevalences of gene polymorphism among patients and control group were compared with chi-square test and no statistically significant results were seen between each groups.(C/C: 80% vs 76%; C/T: 20% vs 18% ; T/T : 0% vs 6% p value: 0,212) AMI CC:%50 CT:%50 TT:%0 p:0.295 , in SVO CC:%69.5 CT:%30.5 TT:%0 p:0.275,in PE CC:%100 CT:%0 TT:%0 p: 0.659, in PVT CC:%100 CT:%0 TT:%0 p:0.467, in DVT CC:%93.4 CT:%6.6 TT:%0 p:0.317.Result of thrombosis type in arterial type CC: %50 CT:%50 TT:%0 Venous type CC:%83.4 CT:%16.6 TT:50 p:0.174. Conclusion:In our study, no statistically significant association between FXII gene polymorphism and thrombosis were found. It needs to be further evaluated in large trials. Keywords:FXII, thrombophilia, thrombosis