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Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development.
Patel, Yash P; Patel, Sandip B; Patel, Priyal; Parikh, Aditya; Soni, Shailesh; Srivastava, Ratika; Raval, Chintal; Ganpule, Arvind P; Desai, Mahesh R; Patel, Samir G; Pandey, Sachchida Nand.
Afiliación
  • Patel YP; Department of Clinical Pharmacy, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India.
  • Patel SB; Department of Pharmacology, L.M. College of Pharmacy, Ahmedabad, Gujarat, 380009, India.
  • Patel P; Department of Pharmacology, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India.
  • Parikh A; Department of Urology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India.
  • Soni S; Department of Pathology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India.
  • Srivastava R; School of Life Sciences, Department of Biotechnology, Babasaheb Bhimrao Ambedkar University (A Central University), Lucknow, UP, India.
  • Raval C; Department of Information Technology Devang Patel Institute of Advance Technology and Research Charotar, University of Science and Technology, Changa, Anand, Gujarat, 388421, India.
  • Ganpule AP; Department of Urology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India.
  • Desai MR; Department of Urology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India.
  • Patel SG; Department of Pharmaceutical Chemistry and Analysis, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India. samirpatel.ph@charusat.ac.in.
  • Pandey SN; Department of Pathology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India. sachidanandpandey@gmail.com.
World J Urol ; 42(1): 28, 2024 Jan 12.
Article en En | MEDLINE | ID: mdl-38214752
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperoxaluria / Cálculos Renales / Oxidorreductasas de Alcohol Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: World J Urol Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperoxaluria / Cálculos Renales / Oxidorreductasas de Alcohol Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: World J Urol Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania