Correlation of unilateral and bilateral urolithiasis and genetic factors

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

We have investigated the relationship between unilateral and bilateral urolithiasis and single nucleotide polymorphisms (SNP) in known urolithiasis-related genes in Russian population. Overall, 115 adult patients from the Central Russia – 71 male patients (61.7%) and 44 female patients (38.3%) were included as study group, and 188 healthy adults as control group (from the corresponding region). The mean age of the study group patients was 44.5±14 years. Among the patients of study group 41 had unilateral and 74 bilateral urolithiasis. Venous blood was the source of DNA. Real-time PCR (Applied Biosystems) was used to detect spectrum and allele frequency of 3 candidate genes: gene of the vitamin D receptor (VDR, rs1540339), gene of extracellular calcium-sensitive receptor (CASR, rs2202127), and gene-modulator of the calcium release activator 1 (ORAI1, rs7135617). Using Fisher angle transformation and chi-square statistics the relationship was shown for SNPs of ORAI1 and unilateral urolithiasis in the Russian population, and for CASR and bilateral urolithiasis. VDR gene SNPs showed no significant associations to any form of urolithiasis. The results obtained show that the genetic factors could be of significant importance for the development of uniand bilateral urolithiasis in the Russian population, namely SNPs of the genes ORAI1 and CASR, correspondingly.

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