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Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis Publisher



Mohammadi A1 ; Shabestari AN2 ; Baghdadabad LZ1 ; Khatami F1 ; Reis LO3 ; Pishkuhi MA4 ; Kazem Aghamir SM1
Authors
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Authors Affiliations
  1. 1. Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Geriatric Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. UroScience and Department of Surgery (Urology), School of Medical Sciences, University of Campinas, Unicamp, and, Pontifical Catholic University of Campinas, PUC-Campinas, Campinas, Sao Paulo, Brazil
  4. 4. Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Science, Tehran, Iran

Source: Frontiers in Genetics Published:2022


Abstract

Objective: This study explores associations between recurrent kidney stones and genetic polymorphisms. Methods: Meta-analysis of polymorphisms in renal stone cases versus control groups. Four electronic databases (PubMed, SCOPUS, EMBASE, and Web of Science) were searched up to 30 May 2021, using the keywords: “kidney stone” or “kidney calculi,” or “urolithiasis” or “nephrolithiasis” or “urinary calculi” and “genome” or “genetic” or “mutation” or “single nucleotide polymorphism.” Forrest plots, ORs, 95% CI, Chi-square (χ2)-test, and index of heterogeneity (I2) were calculated. Only studies with Newcastle–Ottawa scale (NOS) ≥ 6 were included for quality control, and Funnel, Begg’s, and Eager’s plots assessed publication bias. PROSPERO: CRD42022250427. Results: Among 7,671 searched articles, 72 were included. Polymorphisms in VDR (OR: 1.20; 95% CI: 1.06–1.36), CASR (OR = 1.24; 95% CI: 1.01–1.52), Osteopontin (OR = 1.38; 95% CI: 1.09–1.74), and Urokinase genes (OR = 1.52; 95% CI: 1.02–2.28) showed a significant association with risk of urinary stone formation, while Klotho gene showed a protective effect (OR = 0.75; 95% CI: 0.57–0.99). The VDR gene polymorphism was frequent in Asians, whereas CASR polymorphism was frequent in European and North American populations. Conclusion: Multifactorial nature of the stone formation, emphasizing the role of environmental factors, might explain contradictory results in the literature. While polymorphisms in VDR, CASR, Osteopontin, and Urokinase genes were associated with urinary stone formation, the Klotho gene showed a protective effect. Copyright © 2022 Mohammadi, Shabestari, Baghdadabad, Khatami, Reis, Pishkuhi and Kazem Aghamir.
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