Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphism in patients with venous thromboembolism: Croatian case control study

Abstract

Frequen cy of fac tor II G20210A, factor V Lei den, MTHFR C677T and PAI-1 5G/4G polymor phi sm in patien ts wi th venous throm boem bo li sm: Croa tian case-con trol stu dy Ab stra ctIn tro duc tion: Venous throm boem bo lic di sea se is one of the lea di ng cau ses of mor bi di ty and mor ta li ty in the de ve lo ped wor ld. Iden ti ca tion of he re di ta ry fac to rs of throm bop hi lia is con tri bu ti ng to a bet ter un der stan di ng of the etio lo gy and di sea se pre ven tion. The aim of this stu dy was to as se ss the pre va le nce of fac tor II G20210A, fac tor V Lei den, MTHFR (met hyle ne tet ra hydro fo la te re duc ta se) C677T and PAI-1 (plas mi no gen ac ti va tor in hi bi to r-1) 5G/4G po lymor phis ms in heal thy Croa tian sub jec ts and pa tien ts wi th throm boem bo li sm. Ma te ria ls and met ho ds: This pros pec ti ve stu dy in clu ded 100 throm boem bo lic pa tien ts con se cu ti ve ly ad mit ted to the In ten si ve Ca re Unit, Ses tre Mi los r dni ce Uni ver si ty Hos pi tal and 106 heal thy sub jec ts. Ge no typi ng of fac tor II G20210A, fac tor V Lei den, MTHFR C677T and PAI-1 5G/4G po lymorphis ms was do ne usi ng mel ti ng cur ve ana lysis on Lig ht Cycler 1.2 ana lyzer. Re sul ts: Hete ro zygo tes for Fac tor V Lei den po lymor phi sm we re mo re freque nt in the group of pa tien ts wi th the throm boem bo lic di sea se (16%) than in the con trol heal thy sub jec ts (2.9%), OR (95% CI) = 6.41 (1.81-22.8); P = 0.004. Al le le and ge no type frequen cies of ot her stu died po lymorphis ms did not di er be tween ca ses and con tro ls. Con clu sion: This stu dy con r med the as so cia tion of fac tor V Lei den po lymor phi sm wi th the throm boem bo lic di sea se in Croa tian po pu la tion. Key wor ds: throm bop hi lia; coa gu la tion di sor de rs; po lymor phi sm; FV Lei den; fac tor II; plas mi no gen ac ti va tor in hi bi to r-1; met hyle ne tet ra hydro fo late re duc ta se Re cei ved: De cem ber

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

“…Our study shows a T allele frequency of 51.1% in VTE patients, which is similar to studies performed in South and Eastern European countries on the same pathology: 54% in Croatia, 52.6% in Russia, and 42.5% in Macedonia (23)(24)(25). It is well known that the frequency of the T allele varies in the general population as well as in VTE, concordant to geographical and ethnic factors.…”

“…A similar frequency of the homozygous genotype in VTE was found in Turkey (23.8%), Spain (23.7%), in Israel (22.8%) and France (21.8%) (10,(33)(34)(35), concordant with the frequency peak in Southern regions. A peculiar situation appears in Croatia, with a 9% prevalence of the MTHFR 677TT genotype in VTE (23).…”

“…Several studies regarding MTHFR polymorphisms and VTE were also performed in our geographic area, the Balkans and Eastern Europe (10,(23)(24)(25)(26), but as far as we know, no Romanian data have been previously reported.…”

The prevalence of PAI-1 4G/5G gene variant in Serbian population

“…U estalost PAI-1 4G/5G genske varijante varira zavisno od etni ke pripadnosti (17)(18)(19)(20)(21)(22). Frekvenca ove genske varijante odre ivana je za veliki broj populacija, ali do sada nema objavljenih podataka za srpsku populaciju.…”

“…Rezultati su pokazali da u estalost 4G alela iznosi 0,58, što je u saglasnosti sa rezultatima dobijenim za okolne populacije (17)(18)(19). Ista u estalost za 4G alel utvr ena je u studiji Al revi a i saradnika u hrvatskoj populaciji (17) (tabela 2).…”