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Title:Integracija genske ontologije, transkriptomike in genomike za identifikacijo genetskih lokusov povezanih s pljučno funkcijo pri otrocih z astmo, ki se zdravijo z inhalacijskimi kortikosteroidi
Authors:ID Krušič, Martina (Author)
ID Gorenjak, Mario (Mentor) More about this mentor... New window
ID Potočnik, Uroš (Comentor)
Files:.pdf MAG_Krusic_Martina_2021.pdf (2,78 MB)
MD5: E6231AD4E489230E924A60C3C836FE97
PID: 20.500.12556/dkum/9015f77c-54ad-44fe-9cc8-bd53e257f3fa
 
Language:Slovenian
Work type:Master's thesis/paper
Typology:2.09 - Master's Thesis
Organization:FZV - Faculty of Health Sciences
Abstract:Uvod: Astma je heterogena respiratorna bolezen, ki pogosto prizadene tudi otroško populacijo. Simptomi astme se glede na resnost razlikujejo, zdravljenje pa najpogosteje poteka z inhalacijskimi kortikosteroidi (ICS). Odziv na zdravljenje je heterogen in genetsko pogojen. V okviru naše študije smo z uporabo integracije - omik identificirali nove genetske lokuse, povezane z odzivom na ICS. Metode: Z uporabo različnih podatkovnih baz smo pridobili podatke o genih, ki smo jih analizirali z različnimi pristopi znotraj orodij in aplikacij. Statistično značilne signale smo preverili z RNA-seq analizo, v katero smo vključili šest posameznikov slovenskega porekla. Za tri najbolj statistično značilne gene smo izvedli še asociacijsko analizo in jih funkcijsko ovrednotili. Rezultati: S pojmi genske ontologije smo povezali 47 različnih genov, v nadaljevanju pa smo z RNA-seq analizo potrdili tri gene, GNAS (p = 9,18 × 10^-4), CREBBP (p = 1,28 × 10^-3) in EP300 (p = 2,73 × 10^-3), statistično značilno povezane z odzivom na ICS. Z asociacijsko analizo smo pregledali področje ±100 kbp od predhodno navedenih genov, pri čemer je šest SNP-jev doseglo statistično značilno povezavo z ICS-jem. SNP-ja rs236729 in rs118065748 smo v nadaljevanju tudi ovrednotili z uporabo in silico funkcijske analize. Razprava in sklep: Z integracijo - omik smo uspešno identificirali šest SNP-jev, ki so povezani z odzivom na ICS.
Keywords:otroška astma, FEV1, inhalacijski kortikosteroidi, pljučna funkcija
Place of publishing:Maribor
Publisher:[M. Krušič]
Year of publishing:2021
PID:20.500.12556/DKUM-80101 New window
UDC:575.111:616.248-053.2(043.2)
COBISS.SI-ID:75856131 New window
Publication date in DKUM:09.09.2021
Views:1182
Downloads:132
Metadata:XML DC-XML DC-RDF
Categories:FZV
:
KRUŠIČ, Martina, 2021, Integracija genske ontologije, transkriptomike in genomike za identifikacijo genetskih lokusov povezanih s pljučno funkcijo pri otrocih z astmo, ki se zdravijo z inhalacijskimi kortikosteroidi [online]. Master’s thesis. Maribor : M. Krušič. [Accessed 13 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=80101
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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:30.08.2021

Secondary language

Language:English
Title:Combined analysis of gene ontology, transcriptomics and genomics for identification of loci associated with lung function in asthmatic children treated with inhaled corticosteroids
Abstract:Introduction: Asthma is a heterogeneous respiratory disease, which frequently affects pediatric population. Asthma symptoms vary in severity and are treated with inhaled corticosteroids (ICS). Treatment response is heterogeneous, and it is also impacted by genetic factors. In our study we used multi-omic's approach to identify new genetic loci involved in response to ICS. Methods: We used different databases to extract gene data, which were further analyzed with different approaches within tools and applications. Significant signals were analyzed using RNA-seq analysis for six Slovenian patients. Association and functional analyses were performed for three most significant genes. Results: We associated 47 different genes with GO terms, further three genes, GNAS (p = 9,18 × 10^-4), CREBBP (p = 1,28 × 10^-3) and EP300 (p = 2,73 × 10^-3) were confirmed with RNA-seq as statistically significantly associated with response to ICS. Association analysis was used for examination of genetic variants located within ±100 kbp from listed genes, where six SNPs were significantly associated with ICS. Subsequently, functional analysis was performed for SNPs rs236729 and rs118065748. Discussion and conclusion: Using a multi-omic approach we identified six SNPs, which are associated with ICS response.
Keywords:childhood asthma, FEV1, inhaled corticosteroids, lung function


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