Povezanost polimorfizama za protrombin, FV Leiden i MTHFR gen sa venskim tromboembolizmom kod bolesnika u Crnoj Gori

  • Sladjana Teofilov Clinical Center of Montenegro, Center for Medical Genetics and Immunology, Podgorica, Montenegro
  • Zvonko Magić Military Medical Academy, Institute of Medical Research, Belgrade, Serbia
  • Olivera Miljanović Clinical Center of Montenegro, Center for Medical Genetics and Immunology, Podgorica, Montenegro
  • Tatjana Ostojić Clinical Center of Montenegro, Center for Medical Genetics and Immunology, Podgorica, Montenegro
  • Milena Bulatović Clinical Center of Montenegro, Center for Medical Genetics and Immunology, Podgorica, Montenegro
DOI: https://doi.org/10.2298/VSP190402086T
Ključne reči: faktor v, geni, mutacija, polimorfizam, genetički, protrombin, tromboembolija

Sažetak


Uvod/Cilj. Polimorfizmi u genima koji kodiraju faktor V Leiden (FV G1691A), protrombin (FII G20210A) i metilentetrahidrofolat reduktazu (MTHFR C677T) su najčešće ispitivani nasledni faktori rizika od nastanka venskog tromboembolizma (VTE). Uprkos tome, ne postoji dovoljno podataka o kliničkom značaju i distribuciji tih polimorfizama u crnogorskoj populaciji. Cilj rada bio je da se utvrdi frekvencija tih polimorfizama kod bolesnika sa VTE u Crnoj Gori. Metode. Istraživanje je sprovedeno kao studija tipa slučaj-kontrola na 160 ispitanika kavkaskog porekla. Studijsku grupu sačinjavalo je 80 bolesnika (35 muškaraca i 45 žena) sa VTE, a kontrolna grupa se sastojala od 80 zdravih ispitanika (32 muškarca i 48 žena), koji nisu imali tromboembolijske epizode bolesti. Genotipizacija polimorfizama za FV G1691A, FII G20210A i MTHFR C677T izvršena je alel specifičnom, lančanom reakcijom polimeraze (PCR). Rezultati. Učestalost heterozigota (HET) za FII G20210A i FV G1691А bila je značajno viša u VTE grupi u poređenju sa kontrolnom grupom (χ2 = 11,7; p = 0,001 i χ2 = 17,69; p < 0,001). Potvrđena je povezanost polimorfizama za FII G20210A i FV G1691А sa povećanim rizikom od VTE [odds ratio (OR) 10,5; 95% confidence interval (CI) = 2,34 do 47,27; p = 0,001 i OR 14,8; 95% CI = 3,34 do 65,43; p < 0,001]. Recesivni homozigoti (RH) za FII G20210A i FV G1691А nisu pronađeni ni u jednoj od ispitivanih grupa. Za polimorfizam MTHFR C677T nije pronađena značajna razlika u učestalosti HET i RH između VTE grupe i kontrolne grupe. Zaključak. Naša studija je pokazala da su polimorfizmi za FII G20210A i FV G1691А značajno povezani sa VTE i njihovo pravovremeno otkrivanje može doprineti prevenciji VTE, posebno kod srodnika bolesnika koji su nosioci tih polimorfizama.

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Objavljeno
2021/05/10
Broj časopisa
Vol. 78 Br. 4 (2021): Vojnosanitetski Pregled
Rubrika
Originalni članak