Link between urolithiasis in patients with various types of familial history and single nucleotide polymorphisms in Russian population

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

In this study we have evaluated the link between the urolithiasis and burdened familial history and single nucleotide polymorphisms (SNP) of the candidate genes without familial anamnesis. We have investigated 125 adult patients with urolithiasis (main study group) from Central Russia and 188 healthy adults from the same region (control group). Among the patients from the main group 43 had healthy relatives (27 male and 16 female patients) and 82 with familial history of urolithiasis (52 male and 30 female patients). Material for investigations was venous blood. Using real-time polymerase chain reaction with assays from “ Applied Biosystems” three SNPs were evaluated for the following genes: solute carrier family 26 (anion exchanger), member 2 (SLC26A6, rs2310996), tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11, rs9525641), ORAI calcium releaseactivated calcium modulator 1 (ORAI1, rs7135617). Using angle transformation method of Fisher we have determined the connection between SNPs of ORAI1 and urolithiasis in patients from Russian population both with and without urolithiasis familial history. No such connection was found for SKC26A6 and TNFSF11. The results obtained from the study show that independent of the familial history the presence of the certain SNPs (ORAI1) could influence the morbidity with urolithiasis.

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