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Title:VPLIV POLIMORFIZMOV V CELOTNEM GENOMU NA PROFILE MAŠČOBNIH KISLIN PRI BOLNIKIH S KRONIČNO VNETNO ČREVESNO BOLEZNIJO
Authors:ID Jezernik, Gregor (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
ID Repnik, Katja (Comentor)
Files:.pdf MAG_Jezernik_Gregor_2016.pdf (2,10 MB)
MD5: 6E9A05CB2187E55BEF5A74AC2DEC0F02
 
Language:Slovenian
Work type:Master's thesis/paper
Typology:2.09 - Master's Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:V magistrskem delu smo s intenzivno bioinformacijsko analizo preučevali povezave med profili maščobnih kislin in polimorfizmi posameznega nukleotida (SNP-ji), ki so bili genotipizirani na SNP mikromreži, ki obsega več kot 200.000 SNP-jev celotnega genoma. Namen tega dela je bil najti genetske regije, ki vplivajo na deleže maščobnih kislin v membranah rdečih krvnih celic bolnikov s kronično vnetno črevesno boleznijo (KVČB) in razložiti, kako s tem prispevajo k patogenezi bolezni ali njenemu poteku. Pri bioinformacijski analizi smo uporabili več programskih orodij, med njimi PLINK, R in Haploview. Bioinformacijska analiza je pokazala močan statistično značilen signal v FADS regiji, ki vpliva na delež dihomo-γ-linolenske kisline (p = 6.84 × 10-7). Signal je del večjega haplotipskega bloka, katerega vpliv na kinetiko metabolizma maščobnih kislin in eikozanoidov je že dobro opisan. Haplotip D namreč poveča sintezo daljših maščobnih kislin. V prisotnosti moderne zahodnjaške diete bogate s krajšimi ω-6 maščobnimi kislinami vodi do proizvodnje velikih količin arahidonske kisline, katere derivati delujejo vnetno. Ta mehanizem je lahko patogen za kronično vnetno črevesno bolezen. Haplotip D v KVČB deluje negativno tudi s porabo esencialnih maščobnih kislin v času hudega vnetja in s tem vpliva na potek bolezni. Rezultati te asociacijske študije kažejo na vlogo maščobnih kislin v poteku KVČB. Nadaljnje raziskave na tem področju bi prispevale k napovedovanju poteka bolezni in uspešnosti terapij ter odkrivanju novih terapevtskih tarč.
Keywords:kronična vnetna črevesna bolezen, profil maščobnih kislin, asociacijska študija, študija celotnega genoma
Place of publishing:Maribor
Publisher:[G. Jezernik]
Year of publishing:2016
PID:20.500.12556/DKUM-62175 New window
UDC:612.336(043.2)
COBISS.SI-ID:20298518 New window
NUK URN:URN:SI:UM:DK:WTMGA2MD
Publication date in DKUM:05.09.2016
Views:2268
Downloads:144
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
JEZERNIK, Gregor, 2016, VPLIV POLIMORFIZMOV V CELOTNEM GENOMU NA PROFILE MAŠČOBNIH KISLIN PRI BOLNIKIH S KRONIČNO VNETNO ČREVESNO BOLEZNIJO [online]. Master’s thesis. Maribor : G. Jezernik. [Accessed 11 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=62175
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Secondary language

Language:English
Title:INFLUENCE OF GENOME WIDE POLYMORPHISMS ON FATTY ACID PROFILES IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE
Abstract:In this thesis we performed a comprehensive bioinformatical analysis between the fatty acids profiles and single nucleotide polymophisms (SNP), which were genotyped on a genome-wide human SNP microarray consisting of more than 200.000 SNP. The aim of this work was to find genetic regions that affect the fatty acids profile in red blood cell membranes of patients with inflammatory bowel disease and explain how they contribute to the pathogenesis of the disease or its progression. We used several software tools in the bioinformatical analysis, including Plink, R and Haploview. The bioinformatics analysis showed a strong statistically significant signal in the FADS gene region (p = 6.84 x 10-7), which affects the proportion of dihomo-γ-linolenic acid. The signal is part of a larger haplotype block whose effect on the kinetics of fatty acids metabolism and eicosanoids has been well described. Haplotype D increases the synthesis of long chain fatty acids. In the presence of the modern western diet rich in shorter ω-6 fatty acids, it leads to the production of large amounts of arachidonic acid, which produces inflammatory derivatives. This mechanism can be pathogenic for inflammatory bowel disease. Haplotype D in IBD also acts negatively by consuming essential fatty acids during severe colon inflammation and thus influences the course of the disease. The results of the association studies highlight the role of fatty acids in the disease course of IBD. Further research in this field could contribute to better prediction of disease course and therapy success and potential discovery of new therapeutic targets.
Keywords:inflammatory bowel disease, fatty acids profile, association study, genome wide study


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