title: [GENETIC RISK FACTORS FOR MULTIPLE KIDNEY STONE FORMATION IN THE RUSSIAN POPULATION].
abstract: This study examines the association of multiple kidney stones with polymorphisms of urolithiasis candidate genes in the Russian population. A total of 75 adult patients with multiple stones (the main group) residing in the Central Russia and 189 healthy adults (control group) from the same region underwent genetic testing. The study group consisted of 41 (54.7%) males and 34 (45.3%) females with mean age 44.5 ± 14 years. The material for the study was samples of venous blood. Spectrum and frequency of polymorphic variants of four urolithiasis candidate genes were determined using real time PCR: the Klotho gene (KL, rs526906), vitamin D receptor gene (VDR, rs1540339), gene of the extracellular calcium-sensitive receptor (CASR, rs2202127), calcium release-activated calcium modulator 1 (ORAI1, rs7135617). Fisher angular conversion and χ2 tests showed association between the genetic polymorphisms of ORAI1 and multiple kidney stone formation in the Russian population. No association was found between multiple kidney stones and polymorphisms of genes encoding KL, VDR, CASR. These results indicate that genetic factors, in particular polymorphic variants of the ORAI calcium release-activated calcium modulator 1 (ORAI1, rs7135617), may affect multiple kidney stone formation in the Russian population.
authors.forename: O I
authors.initials: OI
authors.lastname: Apolihin
authors.forename: A V
authors.initials: AV
authors.lastname: Sivkov
authors.forename: O V
authors.initials: OV
authors.lastname: Konstantinova
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskij
authors.forename: T V
authors.initials: TV
authors.lastname: Tupicyna
authors.forename: D N
authors.initials: DN
authors.lastname: Kalinichenko
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D000090265:Klotho Proteins; D008297:Male; D008875:Middle Aged; D000071740:ORAI1 Protein; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D012307:Risk Factors; D012426:Russia / Q000453:epidemiology; D052878:Urolithiasis / Q000453:epidemiology / Q000235:genetics*
chemical_list: C095550:CASR protein, human; D015220:Calcium Channels; D000071740:ORAI1 Protein; C510746:ORAI1 protein, human; D018167:Receptors, Calcitriol; D044169:Receptors, Calcium-Sensing; C579457:VDR protein, human; D005966:Glucuronidase; D000090265:Klotho Proteins