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Dejan Bregar, 2018, doctoral dissertation

Abstract: 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.
Found in: ključnih besedah
Summary of found: ...the candidate genes with selected single nucleotid polymorphisms (SNPs) were included: (EDN1 (rs5370, rs3087459, rs1476046),...
Keywords: 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
Published: 07.09.2018; Views: 2379; Downloads: 127
.pdf Fulltext (3,06 MB)

Confronting two biomolecular techniques to detect NRF2 gene polymorphism biomarkers
Pieranna Chiarella, Renata Sisto, Ario de Marco, 2018, original scientific article

Found in: ključnih besedah
Keywords: biomarkers, gene polymorphism, NRF2, oxidative stress, PCR, RFLP
Published: 11.12.2018; Views: 2388; Downloads: 114
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Regional biodiversity and seasonal dynamics of the bacterial communities in karstic springs of Slovenia
Maja Opalički Slabe, 2019, doctoral dissertation

Abstract: Information on groundwater’s natural bacterial communities is important for evaluating pristine groundwater’s quality, as environmental changes potentially lead to alterations in bacterial community structures. In four seasons, 15 hypothetically pristine springs across five karst eco-regions in Slovenia (Central Europe) were analysed during their low discharge, and their basic physical and chemical parameters were recorded. The diversity of bacterial community structures was assessed with a terminal restriction fragment length polymorphism fingerprinting method. Total cell counts as bacterial abundance and electron transport system activity as bacterial respiratory activity were used for quantitative evaluation of bacterial communities. To detect anthropogenic pollution, spring water was tested by the cultivation of coliform bacteria and Escherichia coli (E. coli). Results indicate distinct regional differences in environmental parameters, bacterial respiratory activity, presence of coliforms and E. coli, bacterial abundances, and qualitative bacterial community structures, but there were no regional differences in the numbers of operational taxonomic units and biodiversity indices (Shannon-Wiener’s and Simpson’s diversity index, Buzas and Gibson’s evenness). The analysis of seasonal environmental parameters showed significant differences in dissolved organic carbon and pH, and also significant changes in bacterial respiratory activity and abundances, as well as differences in bacterial community structures, the numbers of operational taxonomic units, and biodiversity indices. No seasonal variations were shown for coliforms and E. coli. Despite seasonal oscillations, regional differences prevailed among five karst eco-regions and indicate a significant influence on the qualitative and quantitative aspects of groundwater bacterial community structures. The study confirmed both regional and seasonal differences in groundwater bacterial community structures, which should be included in further sustainable management plans of the aquifers.
Found in: ključnih besedah
Summary of found: ...assessed with a terminal restriction fragment length polymorphism fingerprinting method. Total cell counts as bacterial...
Keywords: karst springs, bacterial community structure (BCS), terminal restriction fragment length polymorphism (T-RFLP), total cell counts (TCC), electron transport system activity (ETSA)
Published: 26.06.2019; Views: 2286; Downloads: 101
.pdf Fulltext (3,76 MB)

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