Early diagnosis of risk for developing calcium oxalate urolithiasis
- Authors: Apolikhin O.I1, Sivkov A.V1, Konstantinova O.V1, Slominskii P.A2, Tupitsyna T.V2, Kalinichenko D.N3
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Affiliations:
- N.A. Lopatkin Scientific Research Institute of Urology and Interventional Radiology - branch of National Medical Radiological Research Center of Minzdrav of Russia
- Institute of Molecular Genetics of RAS
- Hospital for War Veterans № 3, Moscow Health Department
- Issue: No 3 (2017)
- Pages: 5-9
- Section: Articles
- URL: https://journals.eco-vector.com/1728-2985/article/view/289244
- DOI: https://doi.org/10.18565/urol.2017.3.05-8
- ID: 289244
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Abstract
Aim To identify risk groups for calcium oxalate urolithiasis among healthy individuals and patients with urolithiasis in the Russian population using molecular genetics. Materials and methods The study comprised 72 patients with calcium oxalate urolithiasis (study group) and 189 healthy adults from the general Russian population (control group). The study group consisted of 39 (54.2%) men and 33 (45.8%) women. The mean age of urolithiasis patients was 41.5+12.4 years. Analysis of polymorphic variants of 8 candidate urolithiasis genes: tumor necrosis factor 11B (TNFRSF11B, rs3134057), а-subunit of the nuclear estrogen receptor (ESR1, rs851982), Cloto gene (KL, rs526906), vitamin D receptor (VDR, rs1540339 ), an extracellular calcium-sensing receptor (CASR, rs2202127), membrane anion transporter family 26 (SLC26A6, rs2310996), tumor necrosis factor 11 (TNFSF11, rs9525641), the calcium release-activated calcium modulator 1 (ORAI1, rs7135617) in two groups was performed by real-time PCR using Applied Biosystems test. Statistical analysis was performed using Fisher’s angular transformation and χ2. Results In the polymorphism of the ORAI1 gene (rs7135617), the differences in the frequencies of the GG genotype and the G allele in the control sample and in the sample of patients with calcium oxalate urolithiasis were significant: p=0.0004 and p=0.001, respectively. No statistically significant differences in the genotype and allele frequencies were found in the remaining seven gene polymorphisms. Conclusions Healthy individuals and patients with urolithiasis in the Russian population who have the GG genotype and/or the G allele of the polymorphism of the ORAI1 gene (rs7135617) represent risk groups for the formation of calcium oxalate stones.
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About the authors
O. I Apolikhin
N.A. Lopatkin Scientific Research Institute of Urology and Interventional Radiology - branch of National Medical Radiological Research Center of Minzdrav of Russiaed.Sci, Prof., Director
A. V Sivkov
N.A. Lopatkin Scientific Research Institute of Urology and Interventional Radiology - branch of National Medical Radiological Research Center of Minzdrav of RussiaPh.D., Deputy Director
O. V Konstantinova
N.A. Lopatkin Scientific Research Institute of Urology and Interventional Radiology - branch of National Medical Radiological Research Center of Minzdrav of Russia
Email: konstant-ov@yandex.ru
Dr.Med.Sci., Principal Researcher at the Department of Urolithiasis
P. A Slominskii
Institute of Molecular Genetics of RASDr.Biol.Sci, Prof., Head of the Laboratory of Molecular Genetics
T. V Tupitsyna
Institute of Molecular Genetics of RASPh.D. (biol.sci.), Researcher at the Laboratory of Molecular Genetics
D. N Kalinichenko
Hospital for War Veterans № 3, Moscow Health DepartmentPh.D., Urologist
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