The search for the polymorphic variants of the gene candidates of urolithiasis in russian population

Apolihin O.I., Sivkov A.V., Konstantinova O.V., Slominskiy P.A., Tupicyna T.V., Kalinichenko D.N.

The study of the genetic risk factors in the development of the urolithiasis was undertaken in russian population. One hundred and one patients were investigated as study group and 393 healthy patients were used as control group. All patients were from Central Russia. Among the patients of the study group 32 had healthy relatives (17 male and 15 female patients) and 69 – had close relatives with urolithiasis (44 men and 25 women). Venous blood was chosen as the material for investigations. Using PCR (test systems, “Applied Byosystems”) the spectrum and the frequency of the polymorphic variants of 5 gene candidates for urolithiasis were investigated: gene of the tumor necrosis factor 11B (TNFRSF11B, rs3134057) , gene of alpha-subparticle of the nuclear estrogen receptor (ESR1, rs851982), clotho gene (KL, rs526906), receptor vitamin D gene (VDR, rs1540339), gene of the extracellular calcium-sensitive receptor (CASR, rs2202127). Significant discrepancies were determined in the frequencies of the allelic variants DNA-markers for the VDR gene in patients with urolithiasis without familiar clasterization in comparison with control group. The conclusion was made regarding the link presence between the presence of the VDR gene and urolithiasis in russian population. Genes TNFRSF11B, ESR1, KL, CASR showed no links to urolithiasis. It was shown, that urolithiasis development without familiar clasterization in russian population could be affected by the genetic factors – especially, by the polymorphism of the vitamin D receptor gene.The connections between the aforementioned genes and familiar clasterization were not evident in russian population.

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