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The influence of gene polymorphisms on the progression of renal insufficiency
Maixnerová, Dita ; Merta, Miroslav (advisor) ; Kohoutová, Milada (referee) ; Nečas, Emanuel (referee)
I worked on the referred to dissertation thesis in the Department of Biology and Human Genetics in cooperation with the Department of Nephrology of General Teaching Hospital and the First School of Medicine at Charles University. I concentrated on the possible influence of gene polymorphisms on the progression of renal insufficiency of IgAN and ADPKD to ESRD. I investigated the gene polymorphisms of Endothelin and Megsin myself and I participated in examinations of other gene polymorphisms. In our study we were concerned with the gene polymorphisms of G198T, T-1370G a 3A/4A ET-1 and we did not find any differences by comparing genotype frequencies among the IgAN groups with normal renal function and ESRD. The haplotype analysis demonstrated the negative influence of GG4A haplotype (defined as G-198, G-1370 and 4 A allele). The association of GG4A haplotype with the progression of chronic glomerulonephritides, especially IgAN, might be explained by shared interaction of all ET-1 polymorphisms. Then we dealt with the research of C2093T, C2180T Megsin gene polymorphisms on the progression of IgAN in Czech patients. No obvious effect of these polymorphisms was found in single-gene or in haplotype analysis. Nevertheless, the Megsin haplotype reconstruction revealed that the TT haplotype (defined as T-2093,...
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Markers influencing the course of IgA nephropathy.
Neprašová, Michaela ; Maixnerová, Dita (advisor) ; Dusilová Sulková, Sylvie (referee) ; Rychlík, Ivan (referee)
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide with a very severe prognosis, causing kidney failure in up to 50 % of patients in a period of 30 years. For the diagnosis of IgAN it is necessary to perform a renal biopsy, this is an invasive examination that carries number of risks for the patients (the most common is bleeding and others). The aim of our work was to identify markers that could facilitate diagnosis and might help in determining the disease activity with an estimate of prognosis and consequently optimal use of effective therapy. In the pilot project on 19 patients with different types of glomerulonephritides (IgAN, diabetic nephropathy, membranous glomerulonephritis, lupus nephritis, ANCA associated vasculitis) and 19 healthy subjects we demonstrated a panel of 7 biomarkers (8-hydroxyguanosine, dodecanal, leukotriene C4, alpha1-antitrypsin, heparan sulfate , IgA-uromodulin, Gd-IgA1) that were able to completely differentiate patients with IgAN from other types of glomerulonephritides or healthy controls. In a group of 93 Czech patients with IgAN we confirmed the influence of clinical factors (PU, HT, eGFR) on the progression of renal function. Using LDA and logistic regression modelling we found that serum Gd-IgA1 (native without pre-treatment with...
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The influence of gene polymorphisms on the progression of renal insufficiency
Maixnerová, Dita ; Merta, Miroslav (advisor) ; Kohoutová, Milada (referee) ; Nečas, Emanuel (referee)
I worked on the referred to dissertation thesis in the Department of Biology and Human Genetics in cooperation with the Department of Nephrology of General Teaching Hospital and the First School of Medicine at Charles University. I concentrated on the possible influence of gene polymorphisms on the progression of renal insufficiency of IgAN and ADPKD to ESRD. I investigated the gene polymorphisms of Endothelin and Megsin myself and I participated in examinations of other gene polymorphisms. In our study we were concerned with the gene polymorphisms of G198T, T-1370G a 3A/4A ET-1 and we did not find any differences by comparing genotype frequencies among the IgAN groups with normal renal function and ESRD. The haplotype analysis demonstrated the negative influence of GG4A haplotype (defined as G-198, G-1370 and 4 A allele). The association of GG4A haplotype with the progression of chronic glomerulonephritides, especially IgAN, might be explained by shared interaction of all ET-1 polymorphisms. Then we dealt with the research of C2093T, C2180T Megsin gene polymorphisms on the progression of IgAN in Czech patients. No obvious effect of these polymorphisms was found in single-gene or in haplotype analysis. Nevertheless, the Megsin haplotype reconstruction revealed that the TT haplotype (defined as T-2093,...
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