POLYMORPHISM OF THE MTHFR GENE rs1801133: STUDY OF THE IMPORTANCE IN THE DEVELOPMENT OF VARICOSIS OF THE LEGS AND ITS ROLE IN THE OCCURRENCE OF THROMBOTIC COMPLICATIONS

Abstract: Objective. To determine the significance of the rs1801133 polymorphism of the MTHFR gene in the development of Varicose veins of the lower extremities (VVLE) and its thrombotic complications. Materials and methods. The rs1801133 polymorphism of the MTHFR gene was studied in 161 patients with VVLE and its complications, including 111 with uncomplicated VVLE and 55 with venous thrombosis, compared with 155 conditionally healthy subjects by PCR. DNA isolation from peripheral blood lymphocytes was performed using the AmpliPrime RIBO-prep kit. Testing of polymorphic locus rs1801133 in the MTHFR gene was performed using a Rotor-Gene Q instrument (Qiagen, Germany), by allele-specific PCR in Real-Time format, using a kit of LLC NPF Litech (Russia). Results. The proportion of wild-type C/C genotype among patients with thrombotic complications was 46%, significantly lower than in the control group, whose proportion was 62.6% (χ2>3.84; p<0.05; OR=0.5; 95%CI:0.27-0.97). The proportion of mutant homozygous genotype T/T was significantly more significant in the patients with venous thrombosis group than in the control group, accounting for 16% versus 7% of detected cases, respectively (χ2>3.84; p<0.05; OR=3.1; 95%CI:1.11-8.49). Conclusions. The homozygous T/T genotype increases the risk of VBNS and its complications by venous thrombosis.

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