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doctoral thesis
POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA
Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2022. urn:nbn:hr:152:011887
Kadivnik, Mirta
Josip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek

Institutional repository: Repository of the Faculty of Medicine Osijek

Cite this document

Kadivnik, M. (2022). POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA (Doctoral thesis). Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek. Retrieved from https://urn.nsk.hr/urn:nbn:hr:152:011887

Kadivnik, Mirta. "POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA." Doctoral thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2022. https://urn.nsk.hr/urn:nbn:hr:152:011887

Kadivnik, Mirta. "POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA." Doctoral thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2022. https://urn.nsk.hr/urn:nbn:hr:152:011887

Kadivnik, M. (2022). 'POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA', Doctoral thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, accessed 25 November 2024, https://urn.nsk.hr/urn:nbn:hr:152:011887

Kadivnik M. POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA [Doctoral thesis]. Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek; 2022 [cited 2024 November 25] Available at: https://urn.nsk.hr/urn:nbn:hr:152:011887

M. Kadivnik, "POLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA", Doctoral thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, 2022. Available at: https://urn.nsk.hr/urn:nbn:hr:152:011887

Metadata
TitlePOLIMORFIZMI GENA ZA PROGESTERONSKI RECEPTOR U MODULACIJI RIZIKA IDIOPATSKOG SPONTANOG PRIJEVREMENOG PORODA
Title (english)Progesterone receptor gene polymorphisms in modulation of risk for idiopatic spontaneous premature birth
AuthorMirta Kadivnik
MentorJasenka Wagner Kostadinović (mentor)
Committee memberMario Štefanić (predsjednik povjerenstva)
GranterJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Osijek
Defense date and country2022-09-07, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Gynecology and Obstetrics
Universal decimal classification
(UDC)		61 - Medical sciences
Abstract
Cilj istraživanja: Prijevremeni je porod najčešći uzrok perinatalnog mortaliteta i morbiditeta. Progesteron (P4) je steroidni hormon koji sudjeluje u održavanju trudnoće preko progesteronskih receptora (PR). Cilj ovog straživanja bio je utvrditi ima li šest odabranih polimorfizama jednog nukleotida (SNP) gena za progesteronski receptor (PGR) (rs10895068, rs1042838, rs1042839, rs1942836, rs4754732, rs654752) kod majke i/ili novorođenčadi ulogu u modulaciji rizika za spontani prijevremeni porod (sPP). Nacrt studije: U istraživanje su uključene ukupno 292 majke (141 majka u kontrolnoj skupini te 151 majka sa sPP) te 292 pripadajuće novorođenčadi (141 terminsko novorođenče i 151 prijevremeno novorođenče). U ispitivanoj i kontrolnoj skupini majki izmjerena je serumska koncentracija P4. Analizirane su varijante gena za progesteronski receptor kod svih majki i novorođenčadi. Studija je ustrojena kao istraživanje parova. Ispitanici i metode: Određivanje P4 učinjeno je kombinacijom metoda tekućinske kromatografije i tandemske masene spektrometrije. Varijante gena za progesteronski receptor određene su metodom lančane reakcije polimerazom u stvarnom vremenu uz primjenu Taqman kompleta reagensa. Rezultati: Prisutnost rjeđeg T alela rs1042838 PGR-a u novorođenčadi povezan je s većim omjerom izgleda za sPP u njihovih majki, dok je prisutnost homozigotnog CC genotipa rs653752 u majke u recesivnom modelu nasljeđivanja povezana s većim omjerom izgleda za kasni sPP. Prisutnost TT genotipa rs10423848 te TT genotipa rs1042839 kod majke u aditivnom i recesivnom modelu nasljeđivanja povezani su s većim omjerom izgleda za ekstremno rani sPP-om. Prisutnost heterozigotnog TG genotipa rs1042838 te heterozigotnog TC genotipa rs1042839 u superdominantnom modelu nasljeđivanja u novorođenčadi povezani su s većim omjerom izgleda za ekstremno rani sPP u majki. Prisutnost TG i TT genotipova rs1042838 te TC i TT genotipova rs1042839 u dominantnom modelu naslijeđivanja u novorođenčadi povezani su s većim omjerom izgleda za ekstremno rani sPP. Prisutnost CC genotipa rs4754732 u novorođenčadi majki koje nose mušku novorođenčad u recesivnom modelu nasljeđivanja povezana je s većom omjerom izgleda za sPP. Prisutnost CC genotipa rs653752 u novorođenčadi majki starijih od 35 godina u recesivnom modelu nasljeđivanja također je povezana s većim omjerom izgleda za sPP. Prisutnost CT genotipa rs1942836 u novorođenčadi majki koje nisu krvarile tijekom trudnoće djeluje protektivno u slučaju sPP-a. Prisutnost TT genotipa rs1942836 u novorođenčeta u multivarijantnoj regresiji istaknula se kao mogući prediktor za sPP. Zaključak: Rs1042838 i rs1042839 u majke i novorođenčeta te rs653752 u majke povezani su u ovom istraživanju sa sPP-om. Rs1942836, rs653752 te rs4754732 povezani su sa sPPom u kombinaciji s određenim rizičnim čimbenicima majke i/ili djeteta za sPP.
Abstract (english)
Objective: Premature birth (PB) is the most common cause of perinatal mortality and morbidity. Progesterone is a steroid hormone that participates in maintaining pregnancy through progesterone receptors. The objective of this research was to determine whether six selected single nucleotide polymorphisms (SNP) of the progesterone receptor gene (PGR) in mothers and neonates (rs10895068, rs1042838, rs1042839, rs1942836, rs4754732, rs654752) has a role in modulation of the risk for PB. Study draft: The study included a total of 292 mothers (141 mothers in the control group and 151 mothers with PB) and 292 newborns (141 term newborns and 151 premature newborns). Progesterone serum concentrations were measured in the case and control groups of mothers. SNPs of the PGR have been determined in mothers and newborns. The study was conducted as a case control study. Subjects and methods: Progesterone serum concentrations were determined using liquid chromatography and tandem mass spectrometry. SNPs of the PGR were analyzed using a real time polymerase chain reaction instrument and TaqMan reagents kits. Results: The presence of the minor T allele of rs1042838 in newborns was associated with a higher odds ratio for PB, while the presence of the homozygous CC genotype of rs653752 (recessive model of inheritance) in mother was associated with a higher odds ratio for late PB. The presence of the TT genotype of rs10423848 and the TT genotype of rs1042839 (additive and recessive model of inheritance) in mothers is associated with a higher odds ratio for extremely early sPB. The presence of the heterozygous TG genotype of rs1042838 and the heterozygous TC genotype of rs1042839 (superdominant inheritance model) in newborns is associated with a higher odds ratio for extremely early PB. The presence of the TG and TT genotypes of rs1042838 and the TC and TT genotypes of rs1042839 (dominant inheritance model) in newborns is associated with a higher odds ratio for extremely early PB. Mothers with male newborns, whose newborns are carriers of CC genotype of rs4754732 (recessive inheritance model), are at higher risk of PB. Mothers above 35 years of age carrying newborns with the rs653752 CC genotype (recessive inheritance model) are at higher risk of PB. Mothers who did not have vaginal bleeding during pregnancy and carry newborns with the rs1942836 CT genotype (overdominant model of inheritance) have a lower risk of PB. The presence of TT genotype of the rs1942836 in newborns in multivariate regression was highlighted as a possible predictor for PB. Conclusion: Rs1042838 and rs1042839 in mothers and newborns and rs653752 in the mothers are associated with higher risk of PB. Rs1942836, rs653752 and rs4754732 in newborns have been associated with PB only when there are certain mothers’ or newborns’ risk factors for PB.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:152:011887
Promotion2022
Study programmeTitle: University Postgraduate Study
Study programme type: university
Study level: postgraduate
Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
Type of resourceText
Extent130
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-12-06 13:46:18