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Title:POVEZAVA MED POLIMORFIZMI IN IZRAŽANJEM GENOV TRIM35 IN EPHX2 Z OTROŠKO ASTMO
Authors:ID Mlinarič, Luka (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
ID Berce, Vojko (Comentor)
Files:.pdf UN_Mlinaric_Luka_2016.pdf (1,82 MB)
MD5: F611C657192B0A0474E8E054CC4B69E9
 
Language:Slovenian
Work type:Undergraduate thesis
Typology:2.11 - Undergraduate Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:Astma je najpogostejša resna kronična bolezen dihal. V razvitem svetu se pojavlja okrog 10 % obolelih otrok do 18. leta starosti. Kljub številnim raziskavam in razvoju novih zdravil, astme zaenkrat še ni mogoče preprečiti in ne pozdraviti. K nastanku astme poleg okoljskega dejavnika prispeva do danes znanih več kot 100 genov, zato je astma kompleksna bolezen. K razlagi genetskega dejavnika tveganja za nastanek astme so velik napredek prinesle asociacijske študije celotnega genoma (GWA). V letu 2009 so v GWA študiji potrdili povezavo med astmo in polimorfizmom posameznega nukleotida (SNP) rs11778371, ki je lociran na kromosomu 8 v bližini genov EPHX2 in TRIM35, na izražanje katerih vplivajo bližnji SNP-ji. Namen diplomske naloge je bil ugotoviti povezavo in vlogo lokusa na kromosomu 8 pri slovenskih otrocih z astmo. V okviru naloge smo genotipizirali 3 SNP-je ter izmerili izražanje genov EPHX2 in TRIM35. V raziskavo je bilo vključenih 383 otrok z astmo ter 276 zdravih oseb, ki so šteli kot kontrolni vzorci. Izbrane SNP-je smo genotipizirali z verižno reakcijo s polimerazo (PCR), ki ji je sledila tehnika analize talilne krivulje visoke ločljivosti (HRM) ali metoda polimorfizmov dolžin restrikcijskih fragmentov (RFLP), Izražanje genov pa smo izmerili s tehniko PCR v realnem času (qPCR). V diplomske delu smo potrdili povezavo med SNP-jem rs11778371 in otroško astmo v slovenski populaciji ter povezavo med analiziranima SNP-joma rs7017417 in rs4534095 in kliničnimi parametri ter odzivom na terapijo. eQTL vpliva izbranih SNP-jev na izražanje genov EPHX2 in TRIM35 nismo potrdili. Naša študija in pridobljeni rezultati bi tako v bodoče pripomogla k boljši patogenezi astme in k boljši prepoznavnosti obravnavanih polimorfizmov ter omenjenih genov. Tako bi lahko pripomogli h kvalitetnejšemu zdravljenju te kompleksne bolezni.
Keywords:rs11778371, EPHX2, TRIM35, GWA študija, astma, asociacijska analiza, farmakogenetska analiza, ekspresija genov, SNP
Place of publishing:Maribor
Publisher:[L. Mlinarič]
Year of publishing:2016
PID:20.500.12556/DKUM-62310 New window
UDC:575.22:616.248(043.2)
COBISS.SI-ID:20300310 New window
NUK URN:URN:SI:UM:DK:OXZ21GXD
Publication date in DKUM:19.09.2016
Views:1848
Downloads:133
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
MLINARIČ, Luka, 2016, POVEZAVA MED POLIMORFIZMI IN IZRAŽANJEM GENOV TRIM35 IN EPHX2  Z OTROŠKO ASTMO [online]. Bachelor’s thesis. Maribor : L. Mlinarič. [Accessed 26 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=62310
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Secondary language

Language:English
Title:ASSOCIATION BETWEEN POLYMORPHISMS AND EXPRESSION OF GENES TRIM35 AND EPHX2 WITH CHILDHOOD ASTHMA
Abstract:Asthma is the most common serious chronic respiratory disease. In the developed world there are 10% of sick children up to 18 years of age. Despite numerous research and development of new drugs, asthma still can not be prevented, nor cured. In addition to environmental factors, more than 100 well known genes contribute to the occurrence of asthma. Therefore asthma is a complex disease. Genome-wide association studies (GWA) have brought great progress to the interpretation of the genetic risk factors for asthma. In 2009, GWA studies have confirmed the link between asthma and a single nucleotide polymorphism (SNP) rs11778371, which is located on chromosome 8 near EPHX2 and TRIM35 genes, which affect the expression of nearby SNPs. The purpose of this study was to identify the link between and the role of the locus on chromosome 8 in Slovenian children with asthma. Therefore we genotyped 3 SNPs and measured the expression of genes EPHX2 and TRIM35. This study included 383 children with asthma and 276 healthy individuals, who were regarded as control samples. Genotyping was done using polymerase chain reaction (PCR), followed by high resolution melting (HRM) or restriction fragment length polymorphism (RFLP). Gene expression was measured with real-time PCR (qPCR). In this thesis, we confirmed the link between the SNP rs11778371 and childhood asthma in the Slovenian population and the link between analyzed SNPs rs7017417 and rs4534095 with clinical parameters and response to therapy. eQTL impact of selected SNPs on gene expression EPHX2 and TRIM35 was not confirmed. Our study and the results obtained would therefore help the pathogenesis of asthma in the future and increase the visibility of the mentioned polymorphisms and genes. This could raise the quality of treatment of this complex disease.
Keywords:rs11778371, EPHX2, TRIM35, GWA study, asthma, associative analysis, pharmacogenetic analysis, gene expression, SNP


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