The complement system is an important component of the innate immune system whose
activity must be tightly regulated, as uncontrolled activation can lead to tissue damage.
Dysregulation of the complement system is associated with the development of
complement-mediated kidney diseases, such as aHUS and C3G. The aim of this master's
thesis was to investigate the genetic background of the complement system in patients
with renal pathology. Patients from a hospital setting were included in the study. SNP
genotyping and haplotype analysis were performed for the CFH and MCP/CD46 genes.
In addition, targeted sequencing using Illumina technology was performed to analyse
selected genes involved in the complement system, and the identified genetic variants
were interpreted using the Franklin platform. The results demonstrated the presence of
selected SNPs and the risk haplotypes CFH-H1, CFH-H3, MCPaaggt and MCPggaac.
Sequence analysis identified genetic variants with different levels of clinical
significance, which were classified as benign, likely benign, variants of uncertain
significance VUS, likely pathogenic, and pathogenic. The technical quality parameters
of sequencing confirmed the reliability of the obtained results. Despite the limitations
of the study, including the relatively small number of subjects and the absence of a
control group, the results indicate an important role of genetic factors in complementmediated kidney diseases. This study contributes to a better understanding of the genetic
background of these diseases and provides a basis for future research and the
improvement of genetic diagnostics.
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