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Роль молекулярно-генетических факторов в риске развития острого тромбоза глубоких вен нижних конечностей

Роль молекулярно-генетических факторов в риске развития острого тромбоза глубоких вен нижних конечностей

Abstract

Острый тромбоз глубоких вен нижних конечностей (ОТГВНК) представляет собой глобальную медико-социальную проблему, по-прежнему являясь одной из причин смертности и инвалидизации в России и в индустриально развитых странах мира. Ключевое место в патогенезе развития ОТГВНК отводится феномену тромбофилии. Исследования последних лет существенно расширили наши представления о молекулярных механизмах формирования тромбофилических состояний. Весьма редкими остаются публикации по анализу «ген-генных взаимодействий» полиморфных генетических вариантов, способных влиять на развитие ОТГВНК. Материал и методы. Первую группу составили 58 пациентов с ОТГВНК (35 мужчин и 43 женщины в возрасте от 25 до 60 лет), группа контроля была отобрана из двух популяционных выборок жителей двух административных районов г. Новосибирска, обследованных в рамках популяционных программ MONICA и HAPIEE. Изучены мутации в генах протромбина (G20210A, (rs 179996), гена F5 (лейденская, А506G, (rs 6025), полиморфизм С677Т (rs 1801133) в гене метилентетрагидрофолатредуктазы MTHFR. Заключение. Лейденская мутация выявлена у двух лиц основной группы, мутации протромбина не обнаружено. Установлено достоверное повышение частоты встречаемости генотипа аллелей ТТ полиморфизма С677Т гена MTHFR, ассоциированных с нарушениями фолатного цикла, проявляющимися гомоцистеинемией, у лиц с ОТГВНК, что может служить особенностью региона.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.

Keywords

ОСТРЫЙ ТРОМБОЗ ГЛУБОКИХ ВЕН НИЖНИХ КОНЕЧНОСТЕЙ, ТРОМБОФИЛИЯ, ЛЕЙДЕНСКАЯ МУТАЦИЯ, МУТАЦИЯ ПРОТРОМБИНА, ГОМОЦИСТЕИНЕМИЯ

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average