Analiza izbranih genetskih dejavnikov tveganja za nastanek astme.

Fekonja, Simon (author), Kunej, Tanja (mentor), Rijavec, Matija (comentor)

Astma je kompleksna motnja imunskega sistema. Bolezen označujejo kronično vnetje dihal, zoženje dihalnih poti in bronhialna preodzivnost, simptomi so kašelj, težave z dihanjem in tesnoba v prsnem košu. Lahko pride tudi do trajnih sprememb strukture dihalnih poti. Genetsko ozadje astme, ki je izjemno zapleteno, igra ključno vlogo pri tveganju za razvoj astme. Namen magistrske naloge je bil zbrati gene, povezane z astmo pri človeku, jih urediti v podatkovno zbirko, analizirati z bioinformacijskimi orodji ter pridobiti kandidatni gen za dodatno preverjanje v laboratoriju. Zbrali smo 244 genov ter z bioinformacijskimi orodji analizirali genomske lokacije ter vpletenost v biološke poti. Našli smo več kritičnih regij; regij genoma z geni za astmo, oddaljeni manj kot 1 Mbp. Za nadaljnje preverjanje smo izbrali gen CSF2, vnetni mediator, ki se nahaja v eni izmed določenih kritičnih regij, ter je vpleten v več pomembnih bioloških poti. Določili smo genotip na mestu polimorfizma rs25882 ter izražanje gena CSF2 pri slovenskih bolnikih. Ugotovili smo, da alel C poveča možnost za neatopijsko astmo, medtem ko statistično značilna razlika med izražanjem gena CSF2 pri zdravih bolnikih in astmatikih ni bila ugotovljena. Študija je prikazala, da je možno z uporabo bioinformacijskih orodij pridobiti kandidatne gene za preverjanje v laboratoriju. Nadaljnje študije bi lahko uporabile podoben pristop za iskanje novih kandidatnih genov, ki bi lahko privedli do novih pristopov za preprečevanje razvoja bolezni ali terapijo bolezni.

• Language: Slovenian
• Keywords: Genetski dejavniki, astma, bioinformatika, molekularna genetika, imunologija
• Work type: Master's thesis/paper
• Typology: 2.09 - Master's Thesis
• Organization: BF - Biotechnical Faculty
• Publisher: [S. Fekonja]
• Year: 2018
• PID: 20.500.12556/RUL-103035
• UDC: 575.112:577.27:616.248(043.2)
• COBISS.SI-ID: 9045881
• Publication date in RUL: 13.09.2018

FEKONJA, Simon, 2018, Analiza izbranih genetskih dejavnikov tveganja za nastanek astme. [online]. Master’s thesis. S. Fekonja. [Accessed 25 March 2025]. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=103035

Secondary language

• Language: English
• Title: Analysis of selected genetic factors influencing asthma susceptibility

Abstract

Asthma is a complex disease of the immune system, characterized by chronic airway inflammation, narrowing of the airways and chest tightness. Permanent changes in airway structure can occur. The genetic background of asthma is extremely complicated and plays an important role in asthma development risk. The goal of this study was the construction of a database of genes, associated with asthma, the analysis of the database with bioinformatics tools and determining a candidate gene for further analysis in the laboratory. We collected 244 genes, analyzed their genomic locations and involvement in biological pathways with bioinformatics tools. Several critical regions were found, regions on the genome, where asthma associated genes are less than 1 Mbp apart. For further analyses, CSF2, an important inflammation mediator, was chosen. CSF2 lies in one of the critical regions and is involved in several important biological pathways. We investigated the presence of rs25882 polymorphism and the expression of CSF2 in a population of Slovenian patients. We found that the C allele increases the chances of nonatopic asthma, while the difference between expression of CSF2 in asthmatic and healthy patients was not shown to be statistically significant. Our study showed it is possible to obtain candidate genes for laboratory verification using bioinformatics tools. Further studies could use a similar approach, to search for new candidate genes, potentially leading to new approaches for the prevention of asthma development or treatment for the disease.

• Keywords: Genetic factors, asthma, bioinformatics, molecular genetics, immunology