Povezava med polimorfizmi in geni oksidativnega stresa pri bolnikih s pogostimi kompleksnimi boleznimi

Broz, Matic

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Title:	Povezava med polimorfizmi in geni oksidativnega stresa pri bolnikih s pogostimi kompleksnimi boleznimi
Authors:	ID Broz, Matic (Author) ID Potočnik, Uroš (Mentor) More about this mentor... ID Repnik, Katja (Comentor)
Files:	UN_Broz_Matic_2017.pdf (1,61 MB) MD5: 5695094C4DED9AE3E8FF875F9034809A PID: 20.500.12556/dkum/089920f1-b0d3-4fc3-a2da-53f783c8bf39
Language:	Slovenian
Work type:	Bachelor thesis/paper
Typology:	2.11 - Undergraduate Thesis
Organization:	FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:	Avtoimune kompleksne bolezni, kot so kronična vnetna črevesna bolezen, multipla skleroza in astma, nastanejo kot posledica delovanja genetskih in okoljskih dejavnikov. Pomembno vlogo pri nastanku teh bolezni ima oksidativni stres, saj poveča vnetje, sproži apoptozo celic ter zniža imunsko odpornost. Diplomsko delo prikazuje vpliv sprememb v genih oksidativnega stresa na razvoj astme, multiple skleroze in kronične vnetne črevesne bolezni v slovenski populaciji. V diplomskem delu smo pri slovenskih bolnikih z astmo, multiplo sklerozo in kronično vnetno črevesno bolezenijo ter pri kontrolni skupini zdravih posameznikov s tehniko talilne krivulje visoke ločljivosti genotipizirali polimorfizme posameznega nukleotida (SNP) v genih oksidativnega stresa, in sicer SNP rs4880 na genu SOD2 in SNP rs2107538 na genu CCL5. Ugotovili smo statistično značilno povezavo med polimorfizmom SNP rs4880 na genu SOD2 in multiplo sklerozo. Pri bolnikih z multiplo sklerozo je bila frekvenca alela C višja (0,559) v primerjavi s kontrolno skupino (0,471, p=0,019). To pripišemo izgubi funkcije MnSOD, do katere pride zaradi zamenjave timina s citozinom na 47. mestu. Povezave med rs2107538 na genu CCL5 in analizirami boleznimi nismo potrdili. Ugotovili smo, da SNP rs4880 na genu oksidativnega stresa SOD2 prispeva k patogenezi multiple skleroze in prav tako nakazuje na povezavo z razvojem astme. Rezultati diplomskega dela nakazujejo na vlogo genov oksidativnega stresa pri nastanku kompleksnih bolezni.
Keywords:	oksidativni stres, multipla skleroza, astma, kronična vnetna črevesna bolezen, HRM
Place of publishing:	Maribor
Publisher:	[M. Broz]
Year of publishing:	2017
PID:	20.500.12556/DKUM-67584
UDC:	575.16(043.2)
COBISS.SI-ID:	21039382
NUK URN:	URN:SI:UM:DK:INYNKT7E
Publication date in DKUM:	14.09.2017
Views:	2185
Downloads:	219
Metadata:
Categories:	KTFMB - FKKT
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Licences

License:	CC BY-ND 4.0, Creative Commons Attribution-NoDerivatives 4.0 International

Link:	http://creativecommons.org/licenses/by-nd/4.0/
Description:	Under the NoDerivatives Creative Commons license one can take a work released under this license and re-distribute it, but it cannot be shared with others in adapted form, and credit must be provided to the author.
Licensing start date:	23.08.2017

Secondary language

Language:	English
Title:	Association between polymorphisms and oxidative stress genes in patients with common complex diseases
Abstract:	Autoimmune complex diseases, such as chronic inflammatory bowel disease, multiple sclerosis and asthma, develop as a result of genetic and environmental factors. Oxidative stress has an important role in the development of these diseases as it increases inflammation, triggers apoptosis and weakens the immune system. Diploma thesis demonstrates influence of damaged oxidative stress genes on the development of asthma, multiple sclerosis and chronic inflammatory bowel disease in Slovenian population. In diploma we genotyped single nucleotide polymorphisms (SNP) rs4880 on SOD2 gene and rs2107538 on CCL5 gene, with a high resolution melting technique on patients with asthma, multiple sclerosis and chronic inflammatory bowel disease in Slovenian population. We found a statistically significant correlation among SNP rs4880 on SOD2 gene and multiple sclerosis. Multiple sclerosis patients had a higher allele C frequency (0,559) in comparison to control group (0,471, p=0,019). The cause of MnSOD function loss was attributed to thymine swap with cytosine on 47th nucleotide. There is no noticeable connection among rs2107538 and any of the diseases. We discovered that SNP rs4880 on SOD2 gene contributes to MS pathogenesis, as well as connection to the development of asthma. Results of the diploma thesis represent that genes of oxidative stress play a significant role in the development of complex diseases.
Keywords:	Oxidative stress, multiple sclerosis, asthma, chronic inflammatory bowel disease, HRM

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