The influence of gene polymorphisms on the progression of renal insufficiency

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,..