Balkan Journal of Medical Genetics

THE 3’ END PROTHROMBIN GENE VARIANTS IN SERBIAN PATIENTS WITH IDIOPATHIC THROMBOPHILIA
Aradjanski M1, Djordjevic V1, Pruner I1,*, Tomic B1, Gvozdenov M1, Kovac M2,3, Radojkovic D1
*Corresponding Author: Dr. Iva Pruner, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444A, PO Box 23, 11010 Belgrade, Serbia. Tel: +381-11-397-6658. Fax: +381-11-397-5808. E-mail: iva.pruner@ gmail.com
page: 43

RESULTS

In this study, we included 100 patients with idiopathic thrombophilia and 100 healthy controls. The clinical data of the study group are shown in Table 1. In our study, we detected the presence of A19911G and C20068T variants in the 3’ end of the FII gene (Figure 1). In the patient group, there were 51.0% heterozygous and 20.0% homozygous carriers of the A19911G variant, which was similar to the frequency in the control group (51.0% heterozygous and 19.0% homozygous) (Table 2). The results of our study showed that the difference between patients and controls was not statistically significant (p = 0.88) and that A19911G does not represent a risk factor for idiopathic thrombophilia in our study (OR = 1.06; 95% CI 0.53-2.13). Regarding this variant, both groups were in Hardy- Weinberg equilibrium (c2 = 0.08; p = 0.77). The C20068T variant was detected only in the heterozygous state, with frequencies of 4.0% in patients and 1.0% in the control group (Table 2). Even though this difference between patients and controls was not statistically significant (p = 0.21), it could represent a risk factor in idiopathic thrombophilia (OR = 4.12; 95% CI 0.45-37.52). The study groups were in Hardy-Weinberg equilibrium for this variant (c2 = 0.04; p = 0.83). In our study, 4.0% of the patients were carriers of both A19911G and C20068T mutations. This subset of patients was distinguished by more severe thrombotic manifestations. In one, DVT reoccurred six times and three patients suffered from the combination of more than two thrombotic events (MI, DVT, PE, FL, and stroke).

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