Genetic risk factors for recurrent urolithiasis

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

Aim. To find and determine possible associations of recidivist urolithiasis with candidate gene polymorphism.

Material and methods. 63 adult patients from central Russia (24 females (38,1%) and 39 males (61,9%))s with recidivist urolithiasis and 393 healthy adults from the same region were examined. e mean age of patients from the main group was 42,5 (±13) years. Samples of venous blood were used as the material for the study. Real-time PCR (Applied Biosystems) was used to determine the polymorphic frequency of eight candidate genes for urolithiasis: Tumor Necrosis Factor Receptor Superfamily Member 11B (TNFRSF11B, rs3134057), Vitamin D receptor (VDR, rs1540339), Extracellular Calcium-sensitive Receptor (CASR, rs2202127),Calcium Release-Activated Calcium Channel protein 1 (ORAI1, rs7135617), Clotho gene (KL, rs526906), Estrogen Receptor 1 (ESR1, rs851982), Tumor Necrosis Factor Superfamily Member 11 (TNFSF11, rs9525641), Solute Carrier Family 26 Member 6 (SLC26A6, rs2310996). Statistical data analysis was performed using Fisher's angular transformation and chi-square test.

Results. The allelic association of recurrent urolithiasis with extracellular calcium-sensitive receptor gene (CASR, rs2202127) polymorphism was determined.

Conclusion. Genetic factors may play a role in the development of recurrent urolithiasis in Russian patients, in particular polymorphic variants of CASR gene (rs2202127).

Authors declare lack of the possible conflicts of interests.

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urolithiasis, recurrent urolithiasis, genetic risk factors, gene polymorphism