The Siberian Scientific Medical Journal
 
 
№ 4 / 2012 / 90-94

The role of molecular-genetic factors in the risk of development of acute thrombosis of deep veins of lower extremities

Author Affiliations

Abstract

Acute thrombosis of deep veins of lower extremities (ATDVLE) is a global medical and social problem, in view of the fact that it is still one of the causes of morbidity and mortality in Russia and industrially developed countries of the world. The key role in the pathogenesis of the development of ATDVLE is associated with phenomenon thrombophilia. The researchs of recent years have greatly expanded our understanding of the molecular mechanisms of formation of thrombophilia. The publications on the analysis of «gene-gene interaction» polymorphic genetic variants remain very rare that can influence the development of ATDVLE.

Materials and methods. The first group consisted of 58 patients in the age from 25 till 60 years, the average age of patients with ATDVLE was 49.48 ± 1.26 years (35 men and 43 women). The control group was selected from two population-based samples (MONICA and аНАРІЕЕ) of the residents of two administrative Novosibirsk districts. The study included: a mutation in the gene prothrombin (G20210A, (rs 179996), a mutation in the gene F5 (Leyden, А506G, (rs 6025), polymorphism С677Т (rs 1801133) in a gene MTHFR.

Conclusion. Leiden mutation is detected among two members of the core group, prothrombin mutation is not revealed. The significant increase in occurrence of alleles of polymorphism of С677Т gene MTHFR associated with disorders of folate cycle being manifested with homocysteinaemia in patients with ATDVLE has been found that can be a feature of the region.

Key words

homocysteinatmia, Leiden mutation, prothrombin, acute thrombosis of deep veins of lower extremities, thrombophilia
References
About Authors (Correspondence):

Rovenskikh D.N. – physician, surgeon-oncologist

Maksimov V.N. – doctor of medical sciences, leading researcher of the laboratory for molecular genetic studies of therapeutic diseases, e-mail: medik11@mail.ru

Tatarnikova N.P. junior researcher of the laboratory for molecular genetic researches and therapeutic diseases

Usov S.A. – doctor of medical sciences, professor

Voevoda M.I. – doctor of medical sciences, professor, corresponding member of RAMS, director, e-mail: mvoevoda@ya.ru

Full Text

Received: 10/02/2015