Comparative analysis of heterogeneity of NPHS1 and NPHS2 in children with nephrotic syndrome of Azerbaijan and other populations

The aim is to determine the frequency of polymorphism of the NPHS1 and NPHS2 genes in children of Azerbaijani nationality with different variants of the nephrotic syndrome caused by chronic glomerulonephritis and comparing the results with the data of other populations. We examined 36 children with NS caused by CGN. The mean age was 7.26 ± 2.88 years. Polymorphism of the NPHS1 and NPHS2 genes is evaluated by amplification of the refractory mutation system-PCR. For sequencing BigDye® Terminator V.3.1 Cycle Sequencing Kits (Applied Biosystems, USA) was used. To compare the sequences with the subsequent determination of their similarity to the NM_004646.1 nucleotide chain of the NPHS1 and NPHS2 genes, the Blast Ce NCB1 program was used. The genotype of the GA gene of the NPHS1 gene dominated in the children examined. The genotypes AG and CT of the NPHS2 gene were almost the same. In the congenital and NS with minimal changes, the GA genotype prevailed, and in the case of steroid-resistant HC, the genotype of the CT of the nephrin gene. The genotypes AG and CT of the podocin gene were found at a frequency of 40.0% and 38.0%, respectively. A comparative analysis of the revealed mutations of genes with the results in other populations was carried out. This is the first study of the identification of mutations in the gene NPHS1 and NPHS2 in Azerbaijani patients with NS. The results broadened the known spectrum of mutations in patients with NS and contribute to a better understanding of NS in different ethnic groups