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.