Repozitorij Univerze v Novi Gorici

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Naslov:POLYMORPHISMS IN GENES FOR ENDOTHELIN 1, ENDOTHELIN RECEPTORS AND NITRIC OXIDE SYNTHASE 3 IN PATIENTS WITH DIABETIC RETINOPATHY AND DIABETES MELLITUS TYPE 2 : DISSERTATION
Avtorji:Bregar, Dejan (Avtor)
Globočnik Petrovič, Mojca (Mentor) Več o mentorju... Novo okno
Datoteke:.pdf Dejan_Bregar.pdf (3,06 MB)
 
Jezik:Angleški jezik
Vrsta gradiva:Doktorsko delo/naloga (mb31)
Tipologija:2.08 - Doktorska disertacija
Organizacija:FPŠ - Fakulteta za podiplomski študij
Opis:The major causes of Diabetes Mellitus Type 2 (T2DM) are multi-factorial consequences of complex interactions between environmental, social and genetic factors. We investigated the genetic risk factors in Slovene patients with T2DM on a model of microvascular complication – Diabetic Retinopathy (DR). Retrospective case-control study includes a T2DM Slovene population with clinical risk factors for T2DM and DR. Only some of the candidate genes with selected single nucleotid polymorphisms (SNPs) were included: (EDN1 (rs5370, rs3087459, rs1476046), EDNRA (rs5335, rs1801708), EDNRB (rs10507875, rs4885493), NOS3 (rs869109213). By genotyping with either real-time polymerase chain reaction or standard polymerase chain reaction (PCR) we successfully identified the contribution of variable number of tandem repeats rs869109213 in DR progression (Proliferative Diabetic Retinopathy (PDR)) in Slovene patients with T2DM. The joint effect of individual genotypes of rs10507875 in EDNRB and rs869109213 in NOS3 on DR onset (DR) and DR progression (PDR) was demonstrated as well. The joint effect of the two polymorphisms on DR onset (DR) and DR progression (PDR) was greater than the individual effect of each polymorphism separately in the analyzed genetic models. Despite genetic research contributions in DR, linkage studies, and Genome-wide association studies the identification of susceptible loci through candidate gene approaches still remains in its early stages. The frequent approach with an ultimate focus on SNP associations with phenotype is likely to underestimate the roles of genetics in human diseases by disregarding not only the joint effect of multiple loci but the complex interaction network between them. By identifying polymorphisms in genetic disorders in a more systematic way, we will be able to deepen our understanding of the regulatory mechanisms and disease etiology which should lead to a more effective development of mechanism-based therapies as well.
Ključne besede:endothelin 1, EDN1, endothelin receptor A, EDNRA, endothelin receptor B, EDNRB, nitric oxide synthase 3, NOS3, diabetic retinopathy, DR, diabetes mellitus type 2, T2DM, polymorphism, SNP, genetic model
Leto izida:2018
Izvor:Nova Gorica
COBISS_ID:5215227 Povezava se odpre v novem oknu
URN:URN:SI:UNG:REP:YZ0PSU81
Število ogledov:270
Število prenosov:27
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
Področja:Gradivo ni uvrščeno v področja.
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