title: [Genetic risk factors for recurrence-free urolithiasis in the russian population].
abstract: OBJECTIVE
  Search for and identification of possible associations of recurrence-free urolithiasis with polymorphisms of urolithiasis candidate genes in the Russian population.
  
  
  METHODS
  The study involved 43 patients with recurrence-free urolithiasis, 13 (30.2%) women and 30 (69.8%) of men (main group) from Central Russia, and 189 healthy adults (control group) from the same region. The mean age of the main group was 42.5+/-13 years. The venous blood samples were used for the evaluation. Real-time PCR using the "Applied Biosystems" test systems was performed to determine the spectrum and frequency of eight urolithiasis candidate genes polymorphisms: tumor necrosis factor receptor gene (TNFRSF11B (rs3134057), vitamin D receptor gene (VDR, (rs1540339), extracellular calcium-sensing receptor gene (CASR, (rs2202127), calcium release-activatedcalcium modulator 1 gene (ORAI1, rs7135617), Klotho gene (KL, rs526906), nuclear estrogen receptor alpha-subunit gene (ESR1, rs851982), tumor necrosis factor 11 gene (TNFSF11, rs9525641), and 26 gene family anionic membrane transporter gene (SLC26A6, rs2310996). Fishers angular transformation and 2 test were used for statistical analysis of the data.
  
  
  RESULTS
  For ORAI1 gene, differences in genotype and allele frequencies in the control and main groups are significant: p=0.0001 and p=0.013, respectively. For polymorphisms of the other seven genes studied, the differences in genotype and allele frequencies are non-significant. The results indicate the presence of the association between recurrence-free urolithiasis and calcium release-activatedcalcium modulator 1 gene polymorphism (ORAI1, rs7135617), both in genotypes and alleles.
  
  
  CONCLUSIONS
  In Russian population, genetic factors, in particular, ORAI1 (rs7135617) gene polymorphism, can play the role in the development of recurrence-free urolithiasis.
authors.affiliation: SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin Branch of the FSBI National Medical Research Radiological Center of RMH, Moscow.
authors.forename: O I
authors.initials: OI
authors.lastname: Apolikhin
authors.affiliation: SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin Branch of the FSBI National Medical Research Radiological Center of RMH, Moscow.
authors.forename: A V
authors.initials: AV
authors.lastname: Sivkov
authors.affiliation: SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin Branch of the FSBI National Medical Research Radiological Center of RMH, Moscow.
authors.forename: O V
authors.initials: OV
authors.lastname: Konstantinova
authors.affiliation: Institute of Molecular Genetics of RAS.
authors.forename: P A
authors.initials: PA
authors.lastname: Slominsky
authors.affiliation: Institute of Molecular Genetics of RAS.
authors.forename: T V
authors.initials: TV
authors.lastname: Tupitsyna
authors.affiliation: SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin Branch of the FSBI National Medical Research Radiological Center of RMH, Moscow.
authors.forename: D N
authors.initials: DN
authors.lastname: Kalinichenko
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071740:ORAI1 Protein / Q000235:genetics; D011110:Polymorphism, Genetic; D012008:Recurrence; D012307:Risk Factors; D012426:Russia; D052878:Urolithiasis / Q000235:genetics*
chemical_list: D000071740:ORAI1 Protein; C510746:ORAI1 protein, human
keywords: gene polymorphism; genetic risk factors; recurrence-free urolithiasis; urolithiasis