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Analysis of the polymorphisms in vitamin D receptor gene and genes associated with thrombophilia in women with idiopathic infertility

dc.contributor.advisorStojković, Oliver
dc.contributor.otherZeljić, Katarina
dc.contributor.otherStamenković, Gorana
dc.creatorĐurović, Jelena Ž.
dc.date.accessioned2017-12-12T15:45:01Z
dc.date.available2017-12-12T15:45:01Z
dc.date.issued2017-10-02
dc.identifier.urihttp://eteze.bg.ac.rs/application/showtheses?thesesId=5421
dc.identifier.urihttps://fedorabg.bg.ac.rs/fedora/get/o:16798/bdef:Content/download
dc.identifier.urihttp://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025171890
dc.identifier.urihttp://nardus.mpn.gov.rs/123456789/8938
dc.description.abstractUvod. Genetičke analize mogu ukazati na uzrok infertiliteta kod ţena kod kojih klinički testovi nisu uspeli da utvrde razloge reproduktivnog neuspeha. Cilj. Cilj ovog rada je da se ispita postojanje veze genskih polimorfizama asociranih sa trombofilijom i polimorfizama u genu za receptor za vitamin D (VDR) sa idiopatskim infertilitetom. Materijal i metode. U studiju je uključeno 117 pacijentkinja sa idiopatskim infertilitetom, kao i 130 ţena sa najmanje jednom trudnoćom realizovanom bez komplikacija. Primenom TaqMan metode uzorci su genotipizirani u odnosu na polimorfizme: FV 1691 G>A, FII 20210 G>A, MTHFR 677 C>T, MTHFR 1298 A>C, PAI-1 -675 4G/5G, ATIII 786 G>A, ACE I/D i ITGB3 1565 T>C, dok su polimorfizmi u VDR genu analizirani primenom restrikcionih enzima (FokI, BsmI, ApaI i TaqI). Rezultati. Ispitivanjem etioloških faktora pokazano je da je porodična anamneza značajan faktor pri proceni individualnog rizika za infertilitet. Utvrđeno je da visokorizične varijante FV 1691A i FII 20210A predstavljaju nezavisne faktore rizika za nastanak primarnog infertiliteta. Analizom multilokusnih interakcija definisani su kompleksniji genotipovi asocirani sa sekundarnim infertilitetom. Ispitivanja polimorfizama u VDR genu pokazala su postojanje protektivne uloge alela F u FokI i alela B u BsmI polimorfizmu. Pored toga, analizom vezanosti markera u VDR genu identifikovano je postojanje haplotipova, od kojih je bAT povećavao rizik za sekundarni infertilitet, dok je BAT imao protektivnu ulogu za nastanak primarnog infertiliteta. Zaključak. Analiza polimorfizama u genima asociranim sa trombofilijom i genu za VDR ne samo da definiše moguće kliničko-genetičke dijagnostičke procedure, već sugeriše moguće mehanizme za odrţavanje hemostatskog i imunološkog balansa u procesu reprodukcije.sr
dc.description.abstractIntroduction. Genetic analysis may indicate cause of infertility in women to whom clinical trials have failed to determine the causes of reproductive failure. Aim. The aim of this study is to investigate a link between polymorphisms associated with thrombophilia and polymorphisms in the vitamin D receptor gene (VDR) with idiopathic infertility. Material and methods. This study included 117 female patients with idiopathic infertility, as well as 130 women with at least one pregnancy without complications. Using TaqMan method, the samples were genotyped for polymorphisms: FV 1691 G>A, FII 20210 G>A, MTHFR 677 C>T, MTHFR 1298 A>C, PAI-1 -675 4G/5G, ATIII 786 G>A, ACE I/D and ITGB3 1565 T>C, while VDR gene polymorphisms were analyzed using restriction enzymes (FokI, BsmI, ApaI and TaqI). Results. Examination of etiological factors has shown that family history is a significant factor in assessing individual risk for infertility. High risk variants FV 1691A and FII 20210A have been shown to be independent risk factors for occurrences of primary infertility. An analysis of multilocus interactions defined more complex genotypes associated with secondary infertility. Polymorphisms testing in VDR gene showed the existence of a protective role of allele F in FokI and allele B in BsmI polymorphisms. In addition, the analysis of the linkage in VDR gene identified the existence of haplotypes, of which bAT increased the risk of secondary infertility, while BAT had a protective role of primary infertility. Conclusions. The analysis of polymorphisms in the genes associated with thrombophilia and the VDR gene not only defines possible clinical-genetic diagnostic procedures, but suggests possible mechanisms for maintaining hemostatic and immune balance in the reproductive process.en
dc.formatapplication/pdf
dc.languagesr
dc.publisherУниверзитет у Београду, Биолошки факултетsr
dc.rightsAutorstvo-Nekomercijalno-Bez prerade 3.0 Srbija (CC BY-NC-ND 3.0)
dc.sourceУниверзитет у Београдуsr
dc.subjectidiopatski infertilitet, geni asocirani sa trombofilijom, VDR gen, multilokusne interakcijesr
dc.subjectidiopathic infertility, genes associated with thrombophilia, VDR gene, multilocus interactionsen
dc.titleAnaliza polimorfizama gena za receptor za vitamin D i gena asociranih sa trombofilijom kod žena sa idiopatskim infertilitetomsr
dc.title.alternativeAnalysis of the polymorphisms in vitamin D receptor gene and genes associated with thrombophilia in women with idiopathic infertilityen
dc.typePhD thesis
dcterms.abstractСтојковић, Оливер; Зељић, Катарина; Стаменковић, Горана; Ђуровић, Јелена Ж.; Aнализа полиморфизама гена за рецептор за витамин Д и гена асоцираних са тромбофилијом код жена са идиопатским инфертилитетом; Aнализа полиморфизама гена за рецептор за витамин Д и гена асоцираних са тромбофилијом код жена са идиопатским инфертилитетом;


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