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Title:GENOTIPIZACIJA POLIMORFIZMOV V KANDIDATNIH GENIH PRI SLOVENSKIH BOLNIKIH Z MULTIPLO SKLEROZO
Authors:ID Kremzer, Natalija (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
ID Hojs Fabjan, Tanja (Comentor)
Files:.pdf UNI_Kremzer_Natalija_2014.pdf (2,58 MB)
MD5: 06C2EEDA25B518E8211BBD63D3F6C5D0
 
Language:Slovenian
Work type:Undergraduate thesis
Typology:2.11 - Undergraduate Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:Multipla skleroza (MS, poznana tudi kot diseminirana skleroza ali encephalomyelitis disseminata) je kronična avtoimunska vnetna in demielinizirajoča bolezen centralnega živčnega sistema, na nastanek katere ima velik vpliv genetska zasnova. Pomembno vlogo pri tej bolezni imajo geni, ki vplivajo na imunski sistem posameznika. Namen diplomske naloge je narediti asociacijsko analizo polimorfizmov posameznega nukleotida (SNP), ki so jih kot faktor tveganja za nastanek MS identificirale nedavne GWA študije, ter kandidatnih SNP-jev, ki so z le-temi v visokem vezavnem neravnovesju (LD). Pri diplomski nalogi smo za 179 vzorcev bolnikov in 276 zdravih posameznikov analizirali 5 SNP-jev, ki ležijo na različnih kandidatnih genih oz. področjih. Za genotipizacijo smo uporabili verižno reakcijo s polimerazo (PCR) in tudi restrikcijo fragmentov dolžin polimorfizmov (Restriction Fragment Length Polymorphism, RFLP). Rezultate smo primerjali med obema skupinama s programskim paketom GraphPad Prism 6. Raziskovali smo vpliv določenih genotipov na sam razvoj MS pri bolnikih, na razvoj RRMS pri bolnikih, vpliv teh genotipov na odziv bolnikov na zdravljenje ter na število zagonov. Med predhodno izbranimi SNP-i so pri določenih kriterijih vsi pokazali statistično značilne povezave (p<0,05) in za njih lahko sklepamo, da imajo pomembno vlogo pri MS. Ti SNP-i ležijo na genih IL12A (rs17810546), IL12B (rs6887695), IL23R (rs7517847), IL10 (rs3024505) ter CCR5 (rs 333-del32). Ugotovili smo, da imajo posamezniki na Rebif terapiji z wt/wt genotipom na rs 333-del32 (CCR5) več zagonov kot nosilci mutiranega alela z delecijo del32 (p = 0,0354). Ugotovili smo tudi, da se nosilcem alela G na rs6887695 (IL12B) ob uporabi Tysabri terapije zdravstveno stanje izboljša bolj kot nosilcem C alela (p = 0,0364), ob uporabi Rebif terapije pa se zdravstveno stanje bolj izboljša nosilcem alela C pri genu IL10 (rs3024505) kot nosilcem T alela (p = 0,0156). Ugotovili smo, da je pogostnost alela G na rs17810546 (IL12A) nižja pri bolnikih z MS v primerjavi s kontrolami (p = 0,0356), posamezniki z genotipom GG za SNP rs7517847 (IL23R) pa imajo večjo verjetnost za pojavitev RRMS v primerjavi s heterozigoti in homozigoti za alel T in kontrolami (p = 0,0470). Dobljeni rezultati kažejo, da lahko identificiramo polimorfizme, ki so povezani z nastankom MS, RRMS, z odzivom bolnikov na zdravljenje ter s številom zagonov. To bi nam v prihodnosti omogočilo individualizirano obravnavo in s tem bolnikom omogočilo kakovostnejše življenje.
Keywords:Multipla skleroza, genotipizacija, zdravstveno stanje, nastanek MS.
Place of publishing:Maribor
Publisher:[N. Kremzer]
Year of publishing:2014
PID:20.500.12556/DKUM-46257 New window
UDC:575:57.088.6(043.2)
COBISS.SI-ID:18239766 New window
NUK URN:URN:SI:UM:DK:PDB3K1UW
Publication date in DKUM:26.09.2014
Views:2414
Downloads:171
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
KREMZER, Natalija, 2014, GENOTIPIZACIJA POLIMORFIZMOV V KANDIDATNIH GENIH PRI SLOVENSKIH BOLNIKIH Z MULTIPLO SKLEROZO [online]. Bachelor’s thesis. Maribor : N. Kremzer. [Accessed 23 March 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=46257
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Secondary language

Language:English
Title:GENOTYPING OF POLYMORPHISMS IN CANDIDATE GENES IN SLOVENIAN PATIENTS WITH MULTIPLE SCLEROSIS
Abstract:Multiple sclerosis (MS, also known as disseminated sclerosis or encephalomyelitis disseminata) is a chronic autoimmune inflammatory and demyelinating disease of the central nervous system. Heredity has a major influence on the formation of the disease. Genes that affect the immune system of an individual have an important role in this disease. The purpose of research is to make the associative analysis of Single Nucleotide Polimorphisms (SNP), which have been considered a risk factor for the occurrence of MS in recent GWA studies and also an analysis of candidate SNPs that are in higher linkage disequilibrium (LD) with previously selected SNPs. In the research paper we analysed five SNPs located on different candidate genes or areas for samples of 179 patients and 276 healthy individuals. For genotyping, we used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).The results were compared between the two groups with the software package GraphPad Prism 6. We studied the influence of certain genotypes on the development of MS with patients, on the development of RRMS with patients, the influence of these genotypes on the response to treatment and on the number of relapses. Between pre-selected SNPs, all showed statistically significant correlations (p <0.05) on certain criteria, and we can conclude that they play an important role in MS. These SNPs are located on genes IL12A (rs17810546), IL12B (rs6887695), IL23R (rs7517847), IL10 (rs3024505) and CCR5 (rs-333 del32). We have found that individuals on Rebif therapy with wt/wt genotype at rs 333-del32 (CCR5) experience more relapses than the carrier of mutated alel with deletion del32 D (p = 0.0354). We have also found that the holders of the allele G at rs6887695 (IL12B) using Tysabri therapy improve health condition better than the carrier of the C allele (p = 0.0364) and patients using Rebif therapy improve health condition better as carriers of allele C in the IL10 gene (rs3024505) as the carriers of T allele (p = 0.0156). We found that the frequency of G allele at rs17810546 (IL12A) is lower with patients with MS compared with controls (p = 0.0356) and individuals with GG genotype for SNP rs7517847 (IL23R) have a higher probability of occurrence of RRMS in comparison with heterozygotes and homozygotes for the T allele and controls (p = 0.0470). The obtained results show that is possible to identify polymorphisms that are associated with the development of MS, RRMS, with the response to treatment and with the number of relapses. This would allow us to provide an individualized treatment in the future and with that we could improve the patient quality of life.
Keywords:Multiple sclerosis, genotyping, health condition, the emergence of MS.


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