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Association of TRPV5 gene polymorphism with calcium urolithiasis: a case–control study from West Bengal, India

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Abstract

Purpose

Present study was intended to investigate the potential contribution of TRPV5 gene polymorphisms with calcium urolithiasis in the population of West Bengal, India.

Methods

A 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.

Results

Urinary 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.

Conclusions

The 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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Acknowledgements

This work was financially supported by the Department of Science and Technology (DST), Government of India (Ref. No. DST/INSPIRE Fellowship/2016/IF160107, awarded to Pubali Mitra) and Indian Council of Medical Research (Ref No. 5/4/7-6/2015-NCD-II) sanctioned to Prof Madhusudan Das. The authors would like to acknowledge the study participants who gave their consent and collaborated in this study. Dr. Siddharth Saraf and Dr. Alankar Jaiswal, Postdoctoral trainees of Department of Urology, IPGME & R, Kolkata deserves special thanks for their cooperation in sample collection.

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Authors and Affiliations

  1. Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata, West Bengal, 700019, India

    Pubali Mitra & Madhusudan Das

  2. Department of Urology, Institute of Post Graduate Medical Education and Research, 244 A.J.C Bose Road, Kolkata, West Bengal, 700020, India

    Dilip Kumar Pal

Authors
  1. Pubali Mitra
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Contributions

PM and MD conceptualized and designed the research study; PM performed the experiments; PM analyzed the data; MD contributed essential reagents/materials/analysis tools; DKP provided blood samples along with clinical data; PM drafted the manuscript with important intellectual inputs from DKP; MD critically revised the manuscript.

Corresponding author

Correspondence to Madhusudan Das.

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Conflict of interest

The authors declare no conflict of interest and do not have anything to disclose.

Ethical approval

This study was approved by the Institutional Ethics Committee [Memo No. INST/IEC/2016/374 dated 06.06.2016] of Institute of Post Graduate Medical Education & Research (IPGME & R), Kolkata, West Bengal, India and was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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Signed informed consent was obtained from each study participant included in the study.

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Mitra, P., Pal, D.K. & Das, M. Association of TRPV5 gene polymorphism with calcium urolithiasis: a case–control study from West Bengal, India. World J Urol 38, 1311–1322 (2020). https://doi.org/10.1007/s00345-019-02911-7

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  • DOI: https://doi.org/10.1007/s00345-019-02911-7

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