ArticleWorld journal of urology2020
Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
Article in World journal of urology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Calmodulin regulates TRPV5 intracellular trafficking and plasma membrane abundance.The Journal of physiology · 2024Article
- A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria.European journal of human genetics : EJHG · 2024Article
- Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.Urolithiasis · 2022Article
- Metabolic and Genetic Evaluation in Children with Nephrolithiasis.Indian journal of pediatrics · 2022Article
- Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.Frontiers in molecular biosciences · 2022Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposePresent study was intended to investigate the potential contribution of TRPV5 gene polymorphisms with calcium urolithiasis in the population of West Bengal, India.
methodsA case-control study was performed with 152 calcium urolithiasis patients and 144 corresponding healthy controls. Epidemiological and clinical parameters were documented as well as peripheral blood sample was collected from each individual, followed by genomic DNA isolation. Then to identify genetic variants of TRPV5, the entire coding region and exon-intron boundaries of the gene were amplified by polymerase chain reaction using specific oligonucleotide primers and then genotypes were determined by bi-directional DNA sequencing and sequence alignment between case and control individuals.
resultsUrinary calcium excretion was found to be significantly high (p value < 0.0001) in urolithiasis patients as compared to controls. A total of 14 SNPs were obtained of which one non-synonymous (rs4236480; p.Arg154His; CGT > CAT), one synonymous (rs4252417; p.Tyr278Tyr; TAC > TAT) and three intronic (rs4252400, rs4252402, rs4236481) SNPs were found to be significantly associated with increased risk of urolithiasis. For non-synonymous SNP rs4236480, 'A' was found to be the risk allele (OR 1.77, 95% CI 1.24-2.51; p value 0.001) and genotype frequency analysis revealed that individuals carrying variant genotype AA were more prone to the disease than individuals with wild genotype GG (OR 3.09, 95% CI 1.26-7.59; p value 0.0136), indicating AA as the risk genotype.
conclusionsThe non-synonymous SNP rs4236480 showed significant association with urolithiasis risk in West Bengal population of India. Future translational and larger population-based studies are required to validate our finding.
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