GENETIC STATUS OF PATIENTS WITH OCCLUSIVE-STENOTIC LESION OF THE AORTO-ILI-FEMORAL SEGMENT AND ITS INFLUENCE ON THE OUTCOMES OF REVASCULARIZING INTERVENTIONS

Relevance. Homocysteine (Hcy) is an amino acid involved in the formation of atherosclerotic chan­ ges in the arterial wall and contributes to the progressive course of lower extremity arterial disease. Polymorphisms C677T, A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G of the methionine synthase (MTR) gene, and A66G of the methionine synthase reductase (MTRR) gene involved in Hcy metabolism are the most functionally significant.

The aim of the study was to analyze the distribution of genetic markers A1298C MTHFR, C677T MTHFR, A2756G MTR, A66G MTRR in patients with LEAD and assess their impact on the outcomes of revascularization surgeries for lesions of the aorto­ilio­femoral segment.

Materials and methods. The study included 60 patients with isolated or combined lesions of aorto­ ilio­femoral and the femoral­popliteal­tibial segments. The age of the subjects was 61.5 [59; 66] years.

Results and discussion. After genotyping of polymorphisms, it was found that the most common alleles for the studied genetic markers were the following: for A1298C MTHFR homozygous AA – 29 patients, for C677T MTHFR heterozygous CT – 36, for A2756G MTR heterozygous allele AG – 33, for A66G MTRR heterozygous allele AG – 26. Hyperhomocysteinemia was established in the study group of pa­ tients – 19.3 [13.9; 23.1] µmol/l. The follow­up period for patients was 16 [12; 20] months. During this observation period, 12 complications were identified. The most powerful predictors were the presence of the heterozygous CT allele C677T, Cys, GSH. Using these predictors, a prognostic model was deve­ loped with a sensitivity of 83.33%, a specificity of 81.25%, and an accuracy of 81.67%.

Conclusions. Most of the patients with occlusive­stenotic lesions of aorto­ilio­femoral segment were carriers of heterozygous alleles of the studied genetic markers C677T MTHFR, A2756G MTR, A66G MTRR, for A1298C MTHFR – the homozygous AA allele (n = 29).

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