The role of genetic factors in the development of recurrent urolithiasis
Introduction. Urolithiasis is a polyethylological disease of the urinary system. Epidemiological data on urolithiasis is disappointing: over the past 30 years, the number of patients with urolithiasis has increased by 48.57%, and the mortality rate has increased by 17.12%. Single nucleotide polymorp...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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Ministry of Health of Russian Federation, Rostov State Medical University, State Budget Educational Institute of Higher Professional Education
2022-10-01
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| Series: | Вестник урологии |
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| Online Access: | https://www.urovest.ru/jour/article/view/581 |
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| author | A. V. Savilov M. Jain D. M. Anokhin M. E. Kotsepuga A. S. Tivtikyan L. M. Samokhodskaya D. A. Okhobotov E. V. Afanasyevskaya V. N. Mamedov A. S. Shurygina S. P. Shershnev A. A. Kamalov |
| author_facet | A. V. Savilov M. Jain D. M. Anokhin M. E. Kotsepuga A. S. Tivtikyan L. M. Samokhodskaya D. A. Okhobotov E. V. Afanasyevskaya V. N. Mamedov A. S. Shurygina S. P. Shershnev A. A. Kamalov |
| author_sort | A. V. Savilov |
| collection | DOAJ |
| description | Introduction. Urolithiasis is a polyethylological disease of the urinary system. Epidemiological data on urolithiasis is disappointing: over the past 30 years, the number of patients with urolithiasis has increased by 48.57%, and the mortality rate has increased by 17.12%. Single nucleotide polymorphisms in various genes can influence the risk of development and recurrence of this disease. Early diagnosis of a patient's genetic predisposition to primary or recurrent urolithiasis is important for the effective prevention of urolithiasis.Objective. To explore the association of SNP (Single Nucleotide Polymorphism) rs3134057 (TNFRS11B), rs851982 (ESR1), rs1540339 (VDR), rs2202127 (CASR), rs526906 (KL) with the development of recurrent urolithiasis.Materials and methods. The observed group consisted of 96 patients with a single-sided ureteral stone, of whom 45 had recurrent urolithiasis; the control group consisted of 51 volunteers. Venous blood samples were collected from all participants, DNA was extracted from the blood and analyzed for each SNP studied by real-time polymerase chain reaction. We analyze the data obtained on genotype and presence or absence of urolithiasis in the participants using a binomial logistic regression model.Results. An association was found between the presence of SNP rs3134057 in the TNFRS11B gene (odds ratio (OR), 1.92; confidence interval (CI): 1.05-3.52; p = 0.031) and the development of recurrent urolithiasis.Conclusion. The association of rs3134057 with urolithiasis relapse leads us to investigating the effect of this SNP on serum osteoprotegerin levels, a product of the TNFRS11B gene. |
| first_indexed | 2024-03-07T14:22:53Z |
| format | Article |
| id | doaj.art-006e935785a240a98319022462bcb45b |
| institution | Directory Open Access Journal |
| issn | 2308-6424 |
| language | Russian |
| last_indexed | 2025-03-14T10:35:56Z |
| publishDate | 2022-10-01 |
| publisher | Ministry of Health of Russian Federation, Rostov State Medical University, State Budget Educational Institute of Higher Professional Education |
| record_format | Article |
| series | Вестник урологии |
| spelling | doaj.art-006e935785a240a98319022462bcb45b2025-03-02T10:59:29ZrusMinistry of Health of Russian Federation, Rostov State Medical University, State Budget Educational Institute of Higher Professional EducationВестник урологии2308-64242022-10-01103546410.21886/2308-6424-2022-10-3-54-64386The role of genetic factors in the development of recurrent urolithiasisA. V. Savilov0M. Jain1D. M. Anokhin2M. E. Kotsepuga3A. S. Tivtikyan4L. M. Samokhodskaya5D. A. Okhobotov6E. V. Afanasyevskaya7V. N. Mamedov8A. S. Shurygina9S. P. Shershnev10A. A. Kamalov11Mandryk Central Military Clinical HospitalLomonosov Moscow State University — Medical Research and Education Center; Lomonosov Moscow State University — Faculty of Fundamental MedicineLomonosov Moscow State University — Faculty of Fundamental MedicineLomonosov Moscow State University — Faculty of Fundamental MedicineLomonosov Moscow State University — Medical Research and Education CenterLomonosov Moscow State University — Medical Research and Education Center; Lomonosov Moscow State University — Faculty of Fundamental MedicineLomonosov Moscow State University — Medical Research and Education Center; Lomonosov Moscow State University — Faculty of Fundamental MedicineLomonosov Moscow State University — Faculty of Fundamental MedicineCity Clinical Hospital No. 31— the Healthcare Department of MoscowLomonosov Moscow State University — Faculty of Fundamental MedicineMandryk Central Military Clinical HospitalMandryk Central Military Clinical Hospital; Lomonosov Moscow State University — Faculty of Fundamental MedicineIntroduction. Urolithiasis is a polyethylological disease of the urinary system. Epidemiological data on urolithiasis is disappointing: over the past 30 years, the number of patients with urolithiasis has increased by 48.57%, and the mortality rate has increased by 17.12%. Single nucleotide polymorphisms in various genes can influence the risk of development and recurrence of this disease. Early diagnosis of a patient's genetic predisposition to primary or recurrent urolithiasis is important for the effective prevention of urolithiasis.Objective. To explore the association of SNP (Single Nucleotide Polymorphism) rs3134057 (TNFRS11B), rs851982 (ESR1), rs1540339 (VDR), rs2202127 (CASR), rs526906 (KL) with the development of recurrent urolithiasis.Materials and methods. The observed group consisted of 96 patients with a single-sided ureteral stone, of whom 45 had recurrent urolithiasis; the control group consisted of 51 volunteers. Venous blood samples were collected from all participants, DNA was extracted from the blood and analyzed for each SNP studied by real-time polymerase chain reaction. We analyze the data obtained on genotype and presence or absence of urolithiasis in the participants using a binomial logistic regression model.Results. An association was found between the presence of SNP rs3134057 in the TNFRS11B gene (odds ratio (OR), 1.92; confidence interval (CI): 1.05-3.52; p = 0.031) and the development of recurrent urolithiasis.Conclusion. The association of rs3134057 with urolithiasis relapse leads us to investigating the effect of this SNP on serum osteoprotegerin levels, a product of the TNFRS11B gene.https://www.urovest.ru/jour/article/view/581single nucleotide polymorphismrecurrent urolithiasistnf receptor superfamily member 11bestrogen receptor type ivitamin d receptorcalcium-sensing receptorklotho |
| spellingShingle | A. V. Savilov M. Jain D. M. Anokhin M. E. Kotsepuga A. S. Tivtikyan L. M. Samokhodskaya D. A. Okhobotov E. V. Afanasyevskaya V. N. Mamedov A. S. Shurygina S. P. Shershnev A. A. Kamalov The role of genetic factors in the development of recurrent urolithiasis Вестник урологии single nucleotide polymorphism recurrent urolithiasis tnf receptor superfamily member 11b estrogen receptor type i vitamin d receptor calcium-sensing receptor klotho |
| title | The role of genetic factors in the development of recurrent urolithiasis |
| title_full | The role of genetic factors in the development of recurrent urolithiasis |
| title_fullStr | The role of genetic factors in the development of recurrent urolithiasis |
| title_full_unstemmed | The role of genetic factors in the development of recurrent urolithiasis |
| title_short | The role of genetic factors in the development of recurrent urolithiasis |
| title_sort | role of genetic factors in the development of recurrent urolithiasis |
| topic | single nucleotide polymorphism recurrent urolithiasis tnf receptor superfamily member 11b estrogen receptor type i vitamin d receptor calcium-sensing receptor klotho |
| url | https://www.urovest.ru/jour/article/view/581 |
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