VDR gene polymorphism in susceptibility to urolithiasis among the Asian population: A systematic review and meta-analysis

Authors

DOI:

https://doi.org/10.18778/1898-6773.87.3.07

Keywords:

vitamin D receptor, genetic polymorphism, SNPs, urinary stones disease, allele, genotype

Abstract

Urolithiasis is one of the most prevalent urinary diseases worldwide. Several studies have reported VDR gene polymorphisms to have a contributing genetic factor in susceptibility to urolithiasis and suggested its possibility of being a good candidate marker for urolithiasis. However, results across numerous studies centred on the relationship between the VDR gene polymorphism and urolithiasis have been inconclusive. To perform a meta-analysis concerning the association between the risk of urolithiasis and VDR gene polymorphismsviz., ApaI, BsmI, FokI, and TaqI among the Asian population. A comprehensive electronic search was conducted to identify published studies that investigates the relationship between four polymorphisms (ApaI, BsmI, FokI and TaqI) in the VDR gene and the risk of urinary stone disease using electronic databases. VDR ApaI and FokI polymorphisms were found to be associated with urolithiasis risk. Results from pooled analysis indicated ApaI aa genotype to be associated with urolithiasis compared to AA or Aa genotypes. In addition, the minor f allele of FokI variant was identified to be the risk allele in susceptibility to urolithiasis while F allele to be protective. Moreover, from the subgroup analysis, the ff genotype of FokI and aa genotype of ApaI were associated with higher risk of urolithiasis among the East Asian but not among the Southwest Asians.

Downloads

Download data is not yet available.

References

Amar A, Afzal A, Hussain SA, Hameed A, Khan AR, Shakoor M, et al. 2020. Association of Vitamin D Receptor Gene Polymorphisms and Risk of Urolithiasis: Results of a Genetic Epidemiology Study and Comprehensive Meta-Analysis. Urolithiasis 48 (5): 385–401. https://doi.org/10.1007/s00240-019-01157-7
View in Google Scholar

Arababadi MK, Abousaidi H, Hassanshahi G, Pourfathollah AA, Daneshmandi S, Akbarpour V, et al. 2011. Polymorphisms within Exon 9, But Not Intron 8, of the Vitamin D Receptor Gene Are Associated with Asthma. Iranian Journal of Basic Medical Sciences 14 (3): 225–230.
View in Google Scholar

Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K, et al. 1997. A Vitamin D Receptor Gene Polymorphism in the Translation Initiation Codon: Effect on Protein Activity and Relation to Bone Mineral Density in Japanese Women. Journal of Bone and Mineral Research 12 (6): 915–921.
View in Google Scholar

Bid HK, Chaudhary H, Mittal RD. 2005a. Association of Vitamin-D and Calcitonin Receptor Gene Polymorphism in Paediatric Nephrolithiasis. Pediatric Nephrology 20 (6): 773–776. https://doi.org/10.1007/s00467-005-1846-4
View in Google Scholar

Bid HK, Kumar A, Kapoor R, Mittal RD. 2005b. Association of Vitamin D Receptor-Gene (FokI) Polymorphism with Calcium Oxalate Nephrolithiasis. Journal of Endourology 19 (1): 111–115.
View in Google Scholar

Cakir OO, Yilmaz A, Demir E, Incekara K, Kose MO, Tunali NE. 2016. Association of the BsmI, ApaI, TaqI, Tru9I and FokI Polymorphisms of the Vitamin D Receptor Gene with Nephrolithiasis in the Turkish Popula-Tion. Endourology and Stone Disease 13 (1): 2509–2518.
View in Google Scholar

Carling T, Rastad J, Åkerström G, Westin G. 1998. Vitamin D Receptor (VDR) and Parathyroid Hormone Messenger Ribonucleic Acid Levels Correspond to Polymorphic VDR Alleles in Human Parathyroid Tumors. Journal of Clinical Endocrinology and Metabolism 83 (7): 2255–2259. https://academic.oup.com/jcem/article/83/7/2255/2865167
View in Google Scholar

Chen G, Hu C, Song Y, Xiu M, Liang W, Ou N, et al. 2020. Relationship between the Apai (Rs7975232), Bsmi (Rs1544410), Foki (Rs2228570), and Taqi (Rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis. Frontiers in Genetics 11. https://doi.org/10.3389/fgene.2020.00234
View in Google Scholar

Chen W.-C, Chen H.-Y, Lu H.-F, Hsu C.-D, Tsai F.-J. 2001a. Association of the Vitamin D Receptor Gene Start Codon Fok I Polymorphism with Calcium Oxalate Stone Disease. BJU International 87:168–171
View in Google Scholar

Chen W-C, Chen H-Y, Hsu C-D, Wu J-Y, Tsai F-J. 2001b. No Association of Vitamin D Receptor Gene BsmI Polymorphisms with Calcium Oxalate Stone Formation. Molecular Urology 5 (1): 7–10.
View in Google Scholar

Daryanto B, Purnomo BB, Gunawan A, Mayasari ED, Kusumaningrum AG, Tamara F, et al. 2020. The Association between Vitamin D Receptor Gene Polymorphisms and the Risk of Nephrolithiasis: A Meta-Analysis. Meta Gene 23 (February). https://doi.org/10.1016/j.mgene.2019.100628
View in Google Scholar

Dastani Z, Li R, Richards B. 2013. Genetic Regulation of Vitamin D Levels. Calcified Tissue International 92 (2): 106–117. https://doi.org/10.1007/s00223-012-9660-z
View in Google Scholar

González-Castro TB, Blachman-Braun R, Hernández-Díaz Y, Tovilla-Zárate CA, Pérez-Hernández N, Moscardi PRM, et al. 2019a. Association of Vitamin D Receptor Polymorphisms and Nephrolithiasis: A Meta-Analysis. Gene 711 (August):143936. https://doi.org/10.1016/j.gene.2019.06.026
View in Google Scholar

Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao X-Y, Feldman D. 1998. The Vitamin D Receptor Gene Start Codon Polymorphism: A Functional Analysis of FokI Variants. Journal of Bone and Mineral Research 13 (11): 1691–1699.
View in Google Scholar

Guha M, Bankura B, Ghosh S, Pattanayak AK, Ghosh S, Pal DK, et al. 2015. Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India. PLoS ONE 10 (6): e0130790. https://doi.org/10.1371/journal.pone.0130790
View in Google Scholar

Fallahzadeh MH, Zare J, Al-Hashemi GH, Derakhshan A, Basiratnia M, Arasteh MA, et al. 2012. Elevated Serum Levels of Vitamin D in Infants With Urolithiasis. Iranian Journal of Kidney Diseases 6:186–191. www.ijkd.org
View in Google Scholar

Huang Y, Peng Q, Bao M, Liu C, Wu K, Zhou S. 2019. Biochemical Metabolic Levels and Vitamin D Receptor FokⅠ Gene Polymorphisms in Uyghur Children with Urolithiasis. PLoS ONE 14 (2). https://doi.org/10.1371/journal.pone.0212183
View in Google Scholar

Imani D , Razi R, Khosrojerdi A, Lorian K, Motallebnezhad M, Rezaei R, et al. 2020a. Vitamin D Receptor Gene Polymorphisms and Susceptibility to Urolithiasis: A Meta-Regression and Meta-Analysis. BMC Nephrology 21 (1): 263. https://doi.org/10.1186/s12882-020-01919-1
View in Google Scholar

Jawad ZN, Awad W. 2020a. Association of Urokinase and Vitamin D Receptor Genes SNPs and Urolithiasis in an Iraqi Population. Meta Gene 24 (June). https://doi.org/10.1016/j.mgene.2020.100679
View in Google Scholar

Jurutka PW, Whitfield GK, Hsieh J-C, Thompson PD, Haussler CA, Haussler MR. 2001. Molecular Nature of the Vitamin D Receptor and Its Role in Regulation of Gene Expression. Reviews in Endocrine & Metabolic Disorders 2:203–216
View in Google Scholar

Labuda M, Fujiwara TM, Ross MV, Glorieux FH, Morgan K, Garcia-heras J, et al. 1992. Two Hereditary Defects Related to Vitamin D Metabolism Map to the Same Region of Human Chromosome 12q13-14. Journal of Bone and Mineral Research 7 (12): 1447–1453.
View in Google Scholar

Lee Y-H, Huang W-C, Tsai J-Y, Lu C-M, Chen W-C, Lee M-H, et al. 2002. Epidemiological Studies on the Prevalence of Upper Urinary Calculi in Taiwan. Urolgia Internationalis 68:172–177. www.karger.com/journals/uin
View in Google Scholar

Lin Y, Mao Q, Zheng X, Chen H, Yang K, Xie L. 2011. Vitamin D Receptor Genetic Polymorphisms and the Risk of Urolithiasis: A Meta-Analysis. Urologia Internationalis 86 (3): 249–255. https://doi.org/10.1159/000323949
View in Google Scholar

Liu CC, Huang CH, Wu WJ, Huang SP, Chou YH, Li CC, et al. 2007. Association of Vitamin D Receptor (Fok-I) Polymorphism with the Clinical Presentation of Calcium Urolithiasis. BJU International 99 (6): 1534–1538.
View in Google Scholar

Luchini C, Stubbs B, Solmi M, Veronese N. 2017. Assessing the quality of studies in meta-analyses: Advantages and limitations of the Newcastle Ottawa Scale. World J Meta-Anal 5(4): 80-84.
View in Google Scholar

Martorell-Marugan J, Toro-Dominguez D, Alarcon-Riquelme ME, Carmona-Saez P. 2017. MetaGenyo: A Web Tool for Meta-Analysis of Genetic Association Studies. BMC Bioinformatics 18 (1). https://doi.org/10.1186/s12859-017-1990-4
View in Google Scholar

Mittal R D, Mishra D K, Srivastava P, Manchanda P, Bid H K, Kapoor R, et al. 2010. Polymorphisms in the Vitamin D Receptor and the Androgen Receptor Gene Associated with the Risk of Urolithiasis. Indian Journal of Clinical Biochemistry 25 (2): 119–126.
View in Google Scholar

Miyamoto K-I, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S, et al. 1997. Structural Organization of the Human Vitamin D Receptor Chromosomal Gene and Its Promoter. Molecular Endocrinology 11 (8): 1165–1179.
View in Google Scholar

Morrison NA, Oi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, et al. 1994. Prediction of Bone Density from Vitamin D Receptor Alleles. Nature 367:284–287.
View in Google Scholar

Nishijima S, Sugaya K, Naito A, Morozumi M, Hatano T, Ogawa Y. 2002. Association of Vitamin D Receptor Gene Polymorphism with Urolithiasis. The Journal of Urology 167:2188–91.
View in Google Scholar

Ou C, Zhao HL, Zhu B, Huang LS, Li PZ, Lao M. 2014. Association of Vitamin D Receptor Gene Polymorphism with the Risk of Renal Cell Carcinoma: A Meta-Analysis. Journal of Receptors and Signal Transduction 34 (6): 463–468. https://doi.org/10.3109/10799893.2014.919593
View in Google Scholar

Parvaresh S, Kordestani Z, Maftuhi M, Mohammadi M, Miri Karam Z, Salari Nasab S. 2022. Association of Vitamin D Receptor TaqI Gene Polymorphisms and Susceptibility to Pediatric Urolithiasis in the Iranian Population. Gene, Cell and Tissue 9 (4): e121997. https://doi.org/10.5812/gct-121997
View in Google Scholar

Relan V, Khullar M, Singh SK, Sharma SK. 2004. Association of Vitamin d Receptor Genotypes with Calcium Excretion in Nephrolithiatic Subjects in Northern India. Urological Research 32 (3): 236–240. https://doi.org/10.1007/s00240-004-0414-x
View in Google Scholar

Seo IY, Kang IH, Chae SC, Park SC, Lee YJ, Yang YS, et al. 2010. Vitamin D Receptor Gene Alw I, Fok I, Apa I, and Taq I Polymorphisms in Patients With Urinary Stone. Urology 75 (4): 923–927. https://doi.org/10.1016/j.urology.2009.10.006
View in Google Scholar

Shaogang W, Jihong L, Shaoqun L, Zhangqun Y. 2003. Association of Vitamin D Receptor Gene Polymorphisms with Calcium Oxalate Calculus Disease. Journal of Huazhong University of Science and Technology (Med Sci)’ 23 (1): 38–41.
View in Google Scholar

Subaşı B, Gökçe I, Delil K, Alpay H. 2017. Vitamin D Receptor Gene Polymorphisms in Children with Kidney Stone Disease. Turkish Journal of Pediatrics 59 (4): 404–409. https://doi.org/10.24953/turkjped.2017.04.006
View in Google Scholar

Uitterlinden AG, Fang Y, Van Meurs JBJ, Pols HAP, Van Leeuwen JP.T.M. 2004. Genetics and Biology of Vitamin D Receptor Polymorphisms. Gene 338 (2): 143–156. https://doi.org/10.1016/j.gene.2004.05.014
View in Google Scholar

Wang S, Wang X, Wu J, Lin Y, Chen H, Zheng X, et al. 2012. Association of Vitamin D Receptor Gene Polymorphism and Calcium Urolithiasis in the Chinese Han Population. Urological Research 40 (4): 277–284. https://doi.org/10.1007/s00240-011-0438-y
View in Google Scholar

Yang SK, Song N, Wang YY, Li AM, Liu J, Deng F, et al. 2019. Association of Vitamin D Receptor Gene Polymorphism With the Risk of Nephrolithiasis. Therapeutic Apheresis and Dialysis 23 (5): 425–436. https://doi.org/10.1111/1744-9987.12797
View in Google Scholar

Yang Z, Wang Q, Zhong JF, Longkun L. 2019. Polymorphisms of the VDR Gene in Patients with Nephrolithiasis in a Han Chinese Population. Urolithiasis 47:149–154.
View in Google Scholar

Zhang P, Nie W, Jiang H. 2013. Effects of Vitamin D Receptor Polymorphisms on Urolithiasis Risk: A Meta-Analysis. BMC Medical Genetics 14 (1). https://doi.org/10.1186/1471-2350-14-104
View in Google Scholar

Zhou TB, Jiang ZP, Huang MF, Zhang R. 2015. Association of Vitamin D Receptor Gene Polymorphism with the Urine Calcium Level in Nephrolithiasis Patients. Journal of Receptors and Signal Transduction 35 (2): 127–132. https://doi.org/10.3109/10799893.2014.936462
View in Google Scholar

Downloads

Published

2024-10-21

How to Cite

Yumnam, M., & Sanjenbam, Y. (2024). VDR gene polymorphism in susceptibility to urolithiasis among the Asian population: A systematic review and meta-analysis. Anthropological Review, 87(3), 97–115. https://doi.org/10.18778/1898-6773.87.3.07

Issue

Section

Articles

Funding data

Similar Articles

1 2 3 4 5 6 7 8 9 10 > >> 

You may also start an advanced similarity search for this article.