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Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development

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Abstract

Purpose

Oxalate is an excellent calcium ion attractor with great abundance in the human body, and the liver is the major source of oxalate. The Glycolate oxidase-1 (GOX1) gene is solely responsible for the glycolate and glyoxylate metabolism and produces oxalate. This study has been designed to comprehend the association of genetic variants of the GOX1 gene with the risk of hyperoxaluria and renal stone disease in the Indian population.

Method

The present study is a candidate gene approach prospective case–control study carried out on 300 participants (150 cases and 150 controls) at Muljibhai Patel Urological Hospital, Gujarat, India. Biochemical parameters, including serum levels of calcium, creatinine, parathyroid hormone, and 24-h urine metabolites, were performed. The genotyping of GOX1 gene variants rs6086287, rs2235250, rs2255183, and rs2294303 was performed using a customized TaqMan assay probe by RT-PCR.

Result

Parathyroid hormone, serum creatinine, and urine metabolites were significantly elevated in nephrolithiasis compared to healthy individuals. All mutated homozygous genotypes GG (rs6086287), TT (rs2235250), GG (rs2255183), and CC (rs2294303) were significantly associated with a high risk of renal stone disease. Individuals diagnosed with hyperoxaluria and carrying TG (rs6086287), AG (rs2255183), and TT (rs2294303) genotypes have a significantly high risk of renal stone disease. Moreover, haplotype analysis and correlation analysis also confirmed the strong association between genetic variants and nephrolithiasis.

Conclusion

Genetic variants of the GOX1 genes were associated with renal stone disease. In the presence of risk genotype and hyperoxaluria, the susceptibility to develop renal stone disease risk gets modulated.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

We want to thank the knowledge consortium of Gujarat (KCG), India, for providing scholarship and contingency. We are also thankful to Charotar University of Science and Technology (CHARUSAT) for facilitating us with CHARUSAT SEED RESEARCH GRANT(CHARUSATSEEDRESEARCHGRANT/RPCP/SAPA) and Muljibhai Patel Urological Hospital (MPUH) for providing financial assistance (Department of Urology Research Support Grant) to carried out research work.

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Authors and Affiliations

  1. Department of Clinical Pharmacy, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Yash P. Patel

  2. Department of Pharmacology, L.M. College of Pharmacy, Ahmedabad, Gujarat, 380009, India

    Sandip B. Patel

  3. Department of Pharmacology, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Priyal Patel

  4. Department of Urology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India

    Aditya Parikh, Arvind P. Ganpule & Mahesh R. Desai

  5. Department of Pathology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India

    Shailesh Soni & Sachchida Nand Pandey

  6. School of Life Sciences, Department of Biotechnology, Babasaheb Bhimrao Ambedkar University (A Central University), Lucknow, UP, India

    Ratika Srivastava

  7. Department of Information Technology Devang Patel Institute of Advance Technology and Research Charotar, University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Chintal Raval

  8. Department of Pharmaceutical Chemistry and Analysis, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Samir G. Patel

Authors
  1. Yash P. Patel
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  8. Arvind P. Ganpule
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  10. Samir G. Patel
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Contributions

YP: conceptualization, data curation, investigation, resources, visualization, writing—original draft preparation. SBP: conceptualization, visualization, writing—review and editing. PP: investigation. AP: investigation. SS: methodology. RS: writing—review and editing. CR: formal analysis. AG: conceptualization, project administration, supervision, writing—review and editing. MRD: funding acquisition, supervision. SGP: conceptualization, project administration, resources, supervision, visualization, writing—review and editing. SNP: conceptualization, methodology, resources, software, supervision, validation, writing—review and editing.

Corresponding authors

Correspondence to Samir G. Patel or Sachchida Nand Pandey.

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Conflict of interest

The authors declare no conflict of interest.

Human studies

The protocol for this research project has been approved by the Muljibhai Patel Society for Research in Nephro-Urology at Muljibhai Patel Urological Hospital, Nadiad, Gujarat, India, on 29th July 2019, and the approval number is “EC/575/2019 and EC/697/2020”.

Informed consent

All informed consent forms were signed and obtained from the participants.

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Not applicable.

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Patel, Y.P., Patel, S.B., Patel, P. et al. Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development. World J Urol 42, 28 (2024). https://doi.org/10.1007/s00345-023-04718-z

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  • DOI: https://doi.org/10.1007/s00345-023-04718-z

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