Polimorfizmi promotora gena za IL-18 u pacijenata oboljelih od šećerne bolesti tipa I u Hrvatskoj

master's thesis

• Title (english): IL-18 gene promoter polymorphisms in patients with type i diabetes in Croatia
• Author: Nikolina Jemin
• Mentor: Marijana Popović Hadžija (mentor)
• Mentor: Ana Galov (mentor)
• Committee member: Ana Galov (predsjednik povjerenstva)
• Committee member: Marijana Popović Hadžija (član povjerenstva)
• Committee member: Gordana Lacković-Venturin (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2012-02-15, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Šećerna bolest tipa 1 je uzrokovana autoimunim uništenjem beta stanica gušterače. IL-18 ima važnu ulogu u autoimunosti, a istraživanja upućuju na povezanost polimorfizama IL-18 s razvojem bolesti u nekim populacijama. U tom smislu hrvatska populacija nije dostatno obrađena. Cilj istraživanja je određivanje učestalosti polimorfizama IL-18 -137 G/C i 607 C/A u oboljelih od šećerne bolesti tipa 1 (N=186) te usporedba sa zdravim ispitanicima (N=236). Polimorfizmi su detektirani PCR metodom. Frekvencije genotipova, alela i haplotipova na obje polimorfne pozicije nisu se značajno razlikovale između oboljelih i kontrolne skupine. Nije pronađena povezanost genotipa sa starosnom dobi dijagnosticiranja bolesti, niti s vrijednošću glikoziliranog hemoglobina.. Međutim, pacijenti nositelji genotipa -607 A/A trebaju značajno manju dnevnu dozu inzulina u usporedbi s nositeljima genotipova C/A i C/C (p=0.031). Rezultati upućuju na uključenost analiziranih polimorfizama u regulaciju glikemije i pronalaženje optimalne terapije u pacijenata sa šećernom bolesti tipa 1 u Hrvatskoj.

Abstract (english)

Type 1 diabetes mellitus (T1DM) is a result of an autoimmune destruction of pancreatic beta cells. IL-18 has an important role in autoimmunity and there is an association of IL-18 polymorphisms with the development of T1DM in some, but not all populations. The aim of our study was to evaluate the Croatian population by determing the frequency of IL-18-137 G/C and 607 C/A polymorphisms in T1DM patients (N=187) compared to healthy subjects (N=236) by PCR method. The allelic genotype and haplotype frequencies of both polymorphisms did not differ significantly between patient and control group. There was no correlation of genotype with the age at T1DM onset and glycolysed hemoglobin. However, patients with the -607 (AA) genotype require lower daily insulin dosage compared to patients with the -607 (CA i CC) genotype (p=0.031).
Results indicate that analyzed polymorphisms may influence insulin dosage, glycemic control and therapy optimisation in Croatian T1DM patients.

• Keywords: šećerna bolest tip 1; autoimunost; interleukin 18; polimorfizam; IL-18-137(G/C); IL-18-607(C/A)
• Keywords (english): type I diabetes; autoimmunity; interleukine-18; polymorphism; IL-18-137(G/C); IL-18-607(C/A)
• Language: croatian
• URN:NBN: urn:nbn:hr:217:222896
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-02 08:30:18