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KOMBINOVANO PRISUSTVO GENSKIH POLIMORFIZMA FAKTORA KOAGULACIJE XIII V34L I INHIBITORA PLAZMINOGEN AKTIVATORA 1 4G/5G ZNAČAJNO UTIČE NA RIZIK OD SPONTANOG POBAČAJA U SRPSKOJ POPULACIJI

dc.creatorJoksić, Ivana
dc.creatorMiković, Željko
dc.creatorFilimonović, Dejan
dc.creatorMunjas, Jelena
dc.creatorKaradžov-Orlić, Nataša
dc.creatorEgić, Amira
dc.creatorJoksić, Gordana
dc.date.accessioned2020-06-19T08:50:13Z
dc.date.available2020-06-19T08:50:13Z
dc.date.issued2020
dc.identifier.issn1452-8258
dc.identifier.urihttp://farfar.pharmacy.bg.ac.rs/handle/123456789/3618
dc.description.abstractBackground:Recurrent pregnancy loss (RPL) is a heterogeneous condition affecting up to 5% of women of reproductive age. Inherited thrombophilia have been postulated as one of the causes of RPL. Here we examined the prevalence of nine thrombophilic gene polymorphisms among women with history of recurrent miscarriages and fertile controls.Methods:The study included 70 women with history of at least three early pregnancy losses and 31 fertile controls with no miscarriages. We investigated mutations in genes responsible for clotting and fibrinolysis, including factor V(FV) Leiden, FV H1299R, factor II (FII) G20210A, methyl-ene tetrahydrofolate reductase (MTHFR) C677T and A1298C, factor XIII (FXIII) V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G and endothelial protein C receptor (EPCR) H1 and H3 haplotypes using reverse polymerase chain reaction ViennaLab cardiovascular disease StrippAssays. Results:Our results showed no significant increase inprevalence of tested polymorphisms in women with RPL. However, relative risk for PRL among women heterozygousfor FXIII V34L was 2.81 times increased (OR 2.81, 95% CI1.15–6.87, P=0.023). Haplotype analysis showed that combined presence of high-risk genotypes for FXIII andPAI-1 significantly increases risk for RPL (OR 13.98, CI95% 1.11–17.46, P=0.044).Conclusions:This is the first study in Serbian population that investigated prevalence of FVR2, A1298C, FXIII V34Land EPCR gene variants. Compound heterozygosity forFXIII V34L and PAI-1 4G is significant risk factor for recur-rent miscarriage. Our results should be viewed in context of small case-control study, so further large prospective studies are need for confirmation of our findings.en
dc.description.abstractUvod: Ponavljani spontani pobačaji (PSP) su etiološki heterogeni i javljaju se kod 5% parova u reproduktivnom period. Jedan od mogućih uzroka PSP su i nasledne trombofilije. U okviru ove studije analizirali smo učestalost devet trombofilnih polimorfizama kod pacijentkinja sa ponavljanim spontanim pobačajima. Metode: Ispitanici su u studiji podeljeni u dve grupe na osnovu anamnestičkih podataka o broju spontanih pobačaja (70 u grupi sa PSP i 31 u kontrolnoj grupi). Ispitivani su sledeći genski polimorfizmi: faktor V Lajden (FVL), FVR2, faktor II (FII) G21210A, metilentetrahidrofolat reduktaza (MTHFR) C677T i A1298C polimorfizmi, inhibitor aktivatora plazminogena 1 (PAI-1) 4G/5G, faktor XIII (FXIII) V34L i endotelni protein C receptor (EPRC) H1, H2 i H3 haplotipovi. Za detekciju navedenih polimorfizama je korišćena metoda multipleks reakcije lančanog umnožavanja i reverzne hibridizacije na ViennaLab stripovima. Rezultati: Dobijeni rezultati nisu pokazali povećanu učestalost ispitivanih polimorfizama u grupi sa PSP. Posmatrajući uticaj pojedinačnih polimorfizama na ishod trudnoće pokazano je da polimorfizam FXIII V34L povećava rizik za ponavljane spontane pobačaje (OR 2,81, 95%CI 1,15-6,87, P=0,023). Analizom haplotipova ustanovljeno je da kombinovano prisustvo V34L i PAI-1 4G varijanti značajno povećava rizik za PSP (OR 13,98, CI 95% 1,11-17,46, P=0,044). Zaključak: Ovo je prva studija koja je ispitivala prevalencu FVR2, A1298C, FXIII V34L and EPCR polimorfizama u populaciji žena iz Srbije. Složeni heterozigoti za FXIII V34L i PAI-1 4G polimorfizme imaju značajno povišen rizik sa ponavljane gubitke trudnoće. Radi potvrde dobijenih rezultata potrebne su veće prospektivne studije.sr
dc.language.isoensr
dc.publisherBeograd : Društvo medicinskih biohemičara Srbijesr
dc.relationinfo:eu-repo/grantAgreement/MESTD/Basic Research (BR or ON)/173046/RS//sr
dc.rightsopenAccesssr
dc.sourceJournal of Medical Biochemistrysr
dc.subjectfactor XIIIsr
dc.subjectgene polymorphismsr
dc.subjectinherited thrombophiliasr
dc.subjectplasminogen activator inhibitor-1sr
dc.subjectrecurrent pregnancy losssr
dc.subjectfaktor XIIIsr
dc.subjectinhibitor aktivatora plazminogena-1sr
dc.subjectnasledne trombofilije polimorfizamsr
dc.subjectponavljani spontani pobačajisr
dc.titleCOMBINED PRESENCE OF COAGULATION FACTOR XIII V34L AND PLASMINOGEN ACTIVATOR INHIBITOR 1 4G/5G GENE POLYMORPHISMS SIGNIFICANTLY CONTRIBUTE TO RECURRENT PREGNANCY LOSS IN SERBIAN POPULATIONen
dc.titleKOMBINOVANO PRISUSTVO GENSKIH POLIMORFIZMA FAKTORA KOAGULACIJE XIII V34L I INHIBITORA PLAZMINOGEN AKTIVATORA 1 4G/5G ZNAČAJNO UTIČE NA RIZIK OD SPONTANOG POBAČAJA U SRPSKOJ POPULACIJIsr
dc.typearticlesr
dc.rights.licenseBYsr
dcterms.abstractМиковић, Жељко; Муњас, Јелена; Караджов-Орлић, Наташа; Егић, Aмира; Јоксић, Гордана; Филимоновић, Дејан; Јоксић, Ивана;
dc.citation.volume39
dc.citation.issue2
dc.citation.spage199
dc.citation.epage207
dc.citation.rankM23~
dc.identifier.wos000543793500010
dc.identifier.doi10.2478/jomb-2019-0028
dc.identifier.fulltexthttp://farfar.pharmacy.bg.ac.rs/bitstream/id/7822/COMBINED_PRESENCE_OF_pub_2020.pdf
dc.type.versionpublishedVersionsr


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