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Title:Genetski polimorfizmi in izražanje genov povezanih z nastankom centralnega zdrsa maternice
Authors:ID Bizjak, Tina (Author)
ID But, Igor (Mentor) More about this mentor... New window
ID Potočnik, Uroš (Comentor)
Files:.pdf DOK_Bizjak_Tina_2021.pdf (2,58 MB)
MD5: D823F95EB1094060C581C5D93C92C664
PID: 20.500.12556/dkum/396da629-4fa9-4d07-8d69-72af037cbfd1
 
Language:Slovenian
Work type:Doctoral dissertation
Typology:2.08 - Doctoral Dissertation
Organization:MF - Faculty of Medicine
Abstract:Izhodišče: V preteklih raziskavah je že bila ugotovljena povezava med dednostjo in zdrsom medeničnih organov (ZMO), vendar pa do sedaj še nobena raziskava ni ciljano preučevala pomena dednosti pri izoliranem zdrsu maternice (ZM). V naši raziskavi kandidatnih genov smo skušali ugotoviti, ali genetske različice v šestih predhodno predlaganih lokusih kandidatov za ZMO, ki so bili pri ženskah evropskega porekla identificirani z asociacijsko študijo celotnega genoma, prav tako spremenijo tveganje pri naši skupini bolnic z ZM. Preiskovanke in metode dela: V raziskavo smo vključili 100 bolnic, ki so imele operacijo zaradi izoliranega popolnega ZM, in 105 zdravih žensk. Vse udeleženke so bile stare med 30 in 55 let. Po izolaciji genomske DNA iz periferne krvi smo genotipizirali šest polimorfizmov posameznega nukleotida (SNP), ki so bili predhodno povezani z ZMO. Opravili smo tudi analizo dejavnikov tveganja. Ekspresijo RNA smo določili na RNA in proteinih, ki smo jih izolirali iz sakrouterinih ligamentov pacientk in zdravih žensk s qPCR. Rezultati: Eden od šestih analiziranih SNP-jev je bil statistično povezan z ZM. Na lokusu kromosoma 20p13 smo ugotovili statistično pomembnost za model regresije faktorja tveganja za dominantni model alela T v SNP-ju rs6051098 (p = 0,046; OR: 1,93, CI: 1,01-3,66). Gen IDH3B je bil edini gen v lokusu 20p13, ki je bil v biopsijah sakrouterinega ligamenta pri ženskah z ZM statistično višje izražen v primerjavi s kontrolno skupino (p = 0,034). Analiza proteinov je pokazala trend k povišanemu izražanju proteina IDH3B pri bolnicah z ZM. Zaključek: Po našem najboljšem vedenju, smo kot prvi dokazali, da genetski dejavniki tveganja prispevajo k ZM in predlagali rs6051098 kot najboljši dejavnik tveganja, ki je povezan z ZM. Glede na pridobljene rezultate o ekspresiji predpostavljamo, da gen IDH3B igra vlogo pri patogenezi ZM.
Keywords:kandidatni geni, genetski polimorfizmi, genska ekspresija, zdrs medeničnih organov, zdrs maternice  
Place of publishing:Maribor
Year of publishing:2021
PID:20.500.12556/DKUM-77886 New window
COBISS.SI-ID:77700611 New window
NUK URN:URN:SI:UM:DK:V3EAFFIV
Publication date in DKUM:24.09.2021
Views:1838
Downloads:101
Metadata:XML DC-XML DC-RDF
Categories:MF
:
BIZJAK, Tina, 2021, Genetski polimorfizmi in izražanje genov povezanih z nastankom centralnega zdrsa maternice [online]. Doctoral dissertation. Maribor. [Accessed 1 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=77886
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Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:19.09.2020

Secondary language

Language:English
Title:Genetic polymorphisms and gene expression associated with central uterine prolapse
Abstract:Background: Evidence for a genetic association with pelvic organ prolapse (POP) was found in previous studies but no genetic studies differentiated different types of POP, such as uterine prolapse (UP). We conducted a candidate gene association study to investigate if genetic variants in six previously suggested candidate loci for POP identified in European pedigrees by genome-wide association study also modify the risk in our cohort of UP patients. Patients and methods: In our study, we included 100 patients between 30 and 55 years of age who had surgery due to total UP and 105 matched controls. After extracting the genomic DNA from peripheral blood, six single nucleotide polymorphisms (SNP) previously identified in genome-wide association study for POP were genotyped and the association analysis of contributing risk factors was calculated. RNA expression was determined on RNA isolated from sacrouterine ligaments of patients and controls using qPCR. Results: One out of six SNPs analyzed was associated with uterine prolapse in our cohort. A statistical significance for the dominant model for T allele for rs6051098 at chromosome 20p13 locus was found and remained significant with the risk factor regression model (p = 0.046; OR: 1.93, CI: 1.01-3.66). Gene IDH3B was the only gene in the 20p13 locus that was significantly upregulated in sacrouterine biopsies in women with UP compared to controls (p = 0.034). The protein analysis suggested a trend in the upregulation of the IDH3B protein in UP patients. Conclusions: To the best of our knowledge, we proved for the first time that genetic risk factors contribute to UP and suggested rs6051098 as best candidate risk factor associated with UP. According to expression data in sacrouterine tissue, we were the first to suggest IDH3B gene to play a role in UP pathogenesis.
Keywords:Keywords: candidate genes, genetic polymorphisms, gene expression, pelvic organ prolapse, uterine prolapse


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