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Title:GENOTIPIZACIJA SLOVENSKIH BOLNIKOV Z REVMATOIDNIM ARTRITISOM ZA DNA POLIMORFIZME PREDHODNO POVEZANE Z BOLEZNIJO V ASOCIACIJSKIH ŠTUDIJAH V CELOTNEM GENOMU
Authors:ID Gselman, Doroteja (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
ID Pahor, Artur (Comentor)
Files:.pdf MAG_Gselman_Doroteja_2016.pdf (2,29 MB)
MD5: 9CAB6FA68BB61375F4D202666ACDA2F8
 
Language:Slovenian
Work type:Master's thesis/paper
Typology:2.09 - Master's Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:Revmatoidni artritis je kronična avtoimunska bolezen s kompleksno genetsko etiolologijo. Prizadene vse sklepne dele telesa. Študije so pokazale da poleg okoljskih dejavnikov k razvoju bolezni pomemben delež prispevajo tudi genetski dejavniki. Ocenjen prispevek dednega dejavnika je 60 %. V patogenezo bolezni je vpleteno veliko število polimorfizmov posameznega nukleotida (SNP). Namen magistrskega dela je ugotoviti ali so SNP-ji, ki so bili najbolj statistično značilni v GWA študijah statistično značilni tudi za slovenske bolnike z RA. V raziskavi smo izbrali rs1571878 (CCR6), rs7574865 (STAT4), rs909685 (SYNGR1), rs2476601 (PTPN22) in rs3087243 (CTLA4). Izvedli smo genotipizacijo s PCR-RFLP metodo in HRM metodo na 276 vzorcih bolnikov in 276 vzorcih zdravih kontrol. Rezultate smo analizirali s statistično analizo. Statistična analiza je pokazala povezavo med RA in SNP-jema rs2476601 (PTPN22) (p=0,000013) in rs3087243 (CTLA4) (p=0,002). Alel A za SNP rs2476601 zvišuje tveganje za nastanek RA. Za SNP rs3087243 ima alel G zaščitno vlogo proti nastanku RA.
Keywords:revmatoidni artritis, asociacijske študije na celotnem genomu, verižna reakcija s polimerazo, polimorfizem dolžin celotnega genoma, genotipizacija
Place of publishing:Maribor
Publisher:[D. Gselman]
Year of publishing:2016
PID:20.500.12556/DKUM-61042 New window
UDC:575.22:616.72-002(043.2)
COBISS.SI-ID:20298774 New window
NUK URN:URN:SI:UM:DK:KNOD8NZW
Publication date in DKUM:06.09.2016
Views:1793
Downloads:162
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
GSELMAN, Doroteja, 2016, GENOTIPIZACIJA SLOVENSKIH BOLNIKOV Z REVMATOIDNIM ARTRITISOM ZA DNA POLIMORFIZME PREDHODNO POVEZANE Z BOLEZNIJO V ASOCIACIJSKIH ŠTUDIJAH V CELOTNEM GENOMU [online]. Master’s thesis. Maribor : D. Gselman. [Accessed 26 March 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=61042
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Secondary language

Language:English
Title:GENOTYPING OF SLOVENIAN PATIENTS WITH RHEUMATOID ARTHRITIS FOR DNA POLYMORPHISMS PREVIOUSLY ASSOCIATED WITH THE DISEASE IN GENOME WIDE ASSOCIATION STUDIES
Abstract:Rheumatoid arthritis is a chronic an autoimmune disease with a complex genetic etiololoy. It affects all joints of the body. Studies have shown that in addition to the environmental factors genetic factors also contribute an important proportion to the development of the disease. The estimated contribution of hereditary factors is 60%. However, it is known that a substantial number of single nucleotid polymorphisms (SNP) are involved in the pathogenesis of the disease. The aim of the master thesis was to find out whether are the most strongly associated SNP-s in the GWA studies also associated with the slovenian patients with RA. In this study, we have chosen rs1571878 (CCR6), rs7574865 (STAT4), rs909685 (SYNGR1), rs2476601 (PTPN22) and rs3087243 (CTLA4). We performed genotypization using PCR-RFLP method and HRM method in 276 samples of patients and 276 samples of healthy controls. Results have been analyzed with the statistical analysis. In the assignment we have confirmed associations between SNPs rs2476601 (PTPN22) (p=0,000013) and rs3087243 (CTLA4) (p=0.002). Allele A for SNP-rs2476601 increases the risk of developing RA. For SNP-rs3087243, allel G has a protective role in the development of RA.
Keywords:rheumatoid arthritis, Genome Wide Association Studies, Polymerase Chain Reaction, Restriction Fragment Lenght Polymorphism, genotyping


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