Polimorfizem rs1617640 gena za eritropoetin (EPO) in pojav proliferativne diabetične retinopatije pri bolnikih s sladkorno boleznijo tipa 2

diplomsko delo

Matjaž Kordiš (Author), Tanja Kunej (Mentor), Tanja Kunej (Thesis defence commission member), Danijel Petrovič (Thesis defence commission member), Polona Jamnik (Thesis defence commission member), Hrvoje Petković (Thesis defence commission member), Danijel Petrovič (Co-mentor)

Abstract

Trenutni način življenje ljudem ne pušča dovolj časa za gibanje in zdravo ter kvalitetno prehranjevanje, kar vidimo kot porast v pojavnosti sladkorne bolezni tipa 2, debelosti ter bolezni srca in ožilja. Število primerov sladkorne bolezni tipa 2, se je v zadnjih treh desetletjih potrojilo, predvidevanja pa ne kažejo zmanjšanja števila diabetikov. Največji problem predstavljajo razvijajoče se države, kjer naj bi do leta 2030 s sladkorno boleznijo tipa 2 zbolelo 40 % več ljudi kot v razvitih državah. Eden od možnih zapletov te bolezni je proliferativna diabetična retinopatija (PDR), ki se pojavi pri 15 % bolnikov in lahko ob slabem nadzoru bolezni vodi v slepoto. Dosedanje raziskave kažejo, da na razvoj PDR poleg znanih dejavnikov tveganja, kot so povišan krvni sladkor, hipertenzija in hiperholesterolemija, vplivajo tudi spremembe v genih. V naši raziskavi smo se osredotočili na SNP v promotorju gena za eritropoetin (EPO) v slovenski populaciji bolnikov. Primerjali smo dve skupini preiskovancev; prva je vključevala 235 sladkornih bolnikov tipa 2, ki imajo PDR, druga pa je služila kot kontrola in vključevala 664 sladkornih bolnikov tipa 2 brez PDR. S pomočjo molekularno-genetske analize smo preverili ali je polimorfizem rs1617640 gena EPO možni genski označevalec PDR pri bolnikih s sladkorno boleznijo tipa 2. Rezultati razporeditve genotipov in alelov so pokazali, da preiskovan polimorfizem ni povezan s PDR. Razporeditev genotipov med skupinama je bila na meji statistične značilnosti (p = 0,0564), zato bi bilo smiselno analizo razširiti na večji vzorec preiskovancev.

Keywords

polimorfizem;eritropoetin;proliferativna diabetična retinopatija;molekularna genetika;

Data

Language:	Slovenian
Year of publishing:	2019
Typology:	2.11 - Undergraduate Thesis
Organization:	UL BF - Biotechnical Faculty
Publisher:	[M. Kordiš]
UDC:	606:616.379-008.64:601.4:577.21(043.2)
COBISS:	9258617
Views:	696
Downloads:	135
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	English
Secondary title:	Polymorphism rs1617640 of the gene for erythropoietin (EPO) and occurrence of proliferative diabetic retinopathy in patients with type 2 diabetes mellitus
Secondary abstract:	In the modern world, people often lack time for active live-style and healthy and quality nutrition, which we see as increase in the incidence of type 2 diabetes, obesity and cardiovascular disease. The number of cases of type 2 diabetes has tripled over the last three decades, and predictions do not indicate a decrease in the number of diabetics. It is expected that developing countries will face the biggest consequences in the upcoming years, with the 40 % more cases of type 2 diabetes than developed countries. One of the possible complications of this disease is proliferative diabetic retinopathy (PDR), which occurs in 15 % of patients and can lead to blindness if treated incorrectly. Previous studies suggest that expected known risk factors such as blood sugar, hypertension and hypercholesterolaemia cannot be responsible for all the cases of PDR, requesting that changes in genes play a significant role in development of PDR. In our study, we focused on SNP in the promotor of the gene for erythropoietin (EPO). We compared two Slovenian populations, case group containing of 235 type 2 diabetes patients with PDR, and control group with 664 type 2 diabetics without PDR. With molecular-genetic analysis we checked whether the rs1617640 polymorphism in promotor of the EPO gene is a possible PDR marker in patients with type 2 diabetes. The results of the distribution of genotypes and alleles showed that the investigated polymorphism was not associated with PDR. Distribution of genotypes between groups was near significance (p = 0.0564), therefore it would be necessary to perform the analysis on the larger group of participants.
Secondary keywords:	polymorphism;erythropoietin;proliferative diabetic retinopathy;molecular genetics;
Type (COBISS):	Bachelor thesis/paper
Study programme:	0
Embargo end date (OpenAIRE):	1970-01-01
Thesis comment:	Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages:	VIII, 21 str.
ID:	11187519