Document Type : Review Article
Authors
- Alireza Firouzjahi 1
- Mahdie Taheri 1
- Zahra Ahmadnia 1
- Roja Zaboli 1
- Neda Rajai 1
- Samaneh Rouhi 1
- Sara Ghofrani Tabari 1
- Somayeh Ahmadi 2
- Hossein Ghorbani 1
1 Clinical Research Development Unit of Rouhani Hospital, Babol University of Medical Sciences, Babol, Iran
2 Department of Biostatistics, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract
Background: The precise effect of vitamin D Receptor (VDR) gene polymorphisms on pulmonary tuberculosis (TB) is still a matter of debate. This research aimed to investigate BsmI and ApaI polymorphisms on the susceptibility to TB.
Methods: VDR gene polymorphism prevalence was considered in cases (people with pulmonary TB and polymorphism of VDR genes) and control (healthy people without pulmonary TB and polymorphism of VDR genes) groups during 2010-2023. The evaluation of the quality of the articles was done with the checklist of Joanna Briggs Institute (JBI) systematic reviews checklist for case-control studies and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020. Data were entered into STATA 14 software. Effect size (ES) for polymorphism prevalence and heterogeneity was evaluated based on the random effect model (95% Confidence interval (CI), α = 0.05).
Results: In this review, 17 articles were analyzed. The prevalence of polymorphism between two groups of cases (polymorphism of VDR genes in people with pulmonary TB) and controls (polymorphism of VDR genes in healthy people without pulmonary TB) was different and significant (p<0.001). The highest overall prevalence of polymorphism related to Aa genotypes in the control group (95% CI: 0.34-0.56, ES=0.45, weight: 49.72) and bb in the case group (95% CI: 0.23-0.66, ES=0.45, weight: 47.19).
Conclusion: VDR gene polymorphisms were different between the case and control groups. The most important polymorphisms were associated with Aa and bb genotypes. Human populations with polymorphisms of the VDR genes may be more susceptible to pulmonary TB.
Keywords
Main Subjects
- Yadav S, Rawal G. Understanding the spectrum and management of post-tuberculosis lung disease: a comprehensive review. Cureus 2024;16(6): e63420. doi:10.7759/cureus.63420
- Davidson G, Davidson DU, Okoye OK, Mensah LS, Ukaegbu EC, Agbor DB, et al. Overview of tuberculosis: causes, symptoms and risk factors. Asian J Res Infect Dis 2024;15(9):8- 19. doi:10.9734/ajrid/2024/v15i9370
- Rashedi J, Asgharzadeh M, Moaddab SR, Amani M, Mazani M. ApaI polymorphism of vitamin D receptor gene and association with susceptibility to tuberculosis. J Ardabil Univ Med Sci 2013;13(4):379- 87.
- World Health Organization (WHO). Tuberculosis. WHO; 2026. Available from: https://www.who.int/news-room/fact-sheets/ detail/tuberculosis. Accessed November 7, 2023.
- Chen Q, Liu Q, Li K, Gavotte L, Frutos R, Chen T. Tuberculosis prevalence trends from a predictive modelling study - 10 high-burden countries, 1980-2035. China CDC Wkly 2024;6(12):225-9. doi:10.46234/ccdcw2024.045
- Fallahzadeh H, Khazaei Z, Lari Najafi M, Rahimi Pordanjani S, Goodarzi E. Distribution incidence, mortality of tuberculosis and human development index in Iran: estimates from the global burden of disease study 2019. BMC Public Health 2023;23(1):2404. doi:10.1186/s12889-023-17114-4
- Samsing F, Barnes AC. The rise of the opportunists: what are the drivers of the increase in infectious diseases caused by environmental and commensal bacteria? Rev Aquac 2024;16(4):1787-97. doi:10.1111/raq.12922
- Cobaleda C, Godley LA, Nichols KE, Wlodarski MW, Sanchez-Garcia I. Insights into the molecular mechanisms of genetic predisposition to hematopoietic malignancies: the importance of gene-environment interactions. Cancer Discov 2024;14(3):396-405. doi:10.1158/2159-8290.Cd-23-1091
- Soni J, Sinha S, Pandey R. Understanding bacterial pathogenicity: a closer look at the journey of harmful microbes. Front Microbiol 2024;15:1370818. doi:10.3389/fmicb.2024.1370818
- Hoseinkhani Z, Rastegari-Pouyani M, Tajemiri F, Yari K, Mansouri K. Association of vitamin D receptor polymorphisms (FokI (Rs2228570), ApaI (Rs7975232), BsmI (Rs1544410), and TaqI (Rs731236)) with gastric cancer in a Kurdish population from West of Iran. Rep Biochem Mol Biol 2021;9(4):435-41. doi:10.52547/rbmb.9.4.435
- Gallo D, Baci D, Kustrimovic N, Lanzo N, Patera B, Tanda ML, et al. How does vitamin D affect immune cells crosstalk in autoimmune diseases? Int J Mol Sci 2023;24(5):4689. doi:10.3390/ijms24054689
- Mohammadi A, Khanbabaei H, Nasiri-Kalmarzi R, Khademi F, Jafari M, Tajik N. Vitamin D receptor ApaI (rs7975232), BsmI (rs1544410), FOK1 (rs2228570), and TaqI (rs731236) gene polymorphisms and susceptibility to pulmonary tuberculosis in an Iranian population: a systematic review and meta-analysis. J Microbiol Immunol Infect 2020;53(6):827-35. doi:10.1016/j. jmii.2019.08.011
- Xu X, Shen M. Associations between vitamin D receptor genetic variants and tuberculosis: a meta-analysis. Innate Immun 2019;25(5):305-13. doi:10.1177/1753425919842643
- Samimi R, Hosseinpanahi A, Zaboli R, Peymani A, Rouhi S, Ahmadi Gooraji S, et al. Prevalence of vitamin D receptor genes polymorphisms in people with pulmonary tuberculosis: a systematic review and meta-analysis. Med J Islam Repub Iran 2024;38:32. doi:10.47176/mjiri.38.32
- Mamadapur VK, Nagaraju S, Prabhu MM. Comparative study of vitamin D levels in newly diagnosed tuberculosis and a normal population. Medicina (Kaunas) 2024;60(5):685. doi:10.3390/ medicina60050685
- Bavi H, Hosseini SA, Ekrami A, Alavi SM, Saki Malehi A. Effect of vitamin D supplementation on the treatment of pulmonary tuberculosis patients in different polymorphisms of the vitamin D receptor. Adv Biomed Res 2024;13:102. doi:10.4103/abr. abr_76_24
- Roshani D, Ramazanzadeh R, Farhadifar F, Ahmadi A, Derakhshan S, Rouhi S, et al. A PRISMA systematic review and meta-analysis on Chlamydia trachomatis infections in Iranian women (1986-2015). Medicine (Baltimore) 2018;97(16): e0335. doi:10.1097/md.0000000000010335
- Ramazanzadeh R, Roshani D, Shakib P, Rouhi S. Prevalence and occurrence rate of Mycobacterium tuberculosis Haarlem family multi-drug resistant in the worldwide population: a systematic review and meta-analysis. J Res Med Sci 2015;20(1):78-88.
- Chinn S. A simple method for converting an odds ratio to effect size for use in meta-analysis. Stat Med 2000;19(22):3127- 31. doi:10.1002/1097-0258(20001130)19:22 < 3127:: aid-sim784 > 3.0.co;2-m
- Wang R. Combining data from multiple studies. NEJM Evid 2023;2(5): EVIDe2300066. doi:10.1056/EVIDe2300066
- Shi L, Lin L. The trim-and-fill method for publication bias: practical guidelines and recommendations based on a large database of meta-analyses. Medicine (Baltimore) 2019;98(23): e15987. doi:10.1097/md.0000000000015987
- Sari DK, Dharmajaya R, Sari MI, Masyithah D. Vitamin D receptor gene polymorphism affecting vitamin D and beta carotene deficiency in tuberculosis patients. Open Access Maced J Med Sci 2022;10(T7):30-7. doi:10.3889/ oamjms.2022.9284
- Marashian SM, Farnia P, Seyf S, Anoosheh S, Velayati AA. Evaluating the role of vitamin D receptor polymorphisms on susceptibility to tuberculosis among Iranian patients: a case-control study. Tuberk Toraks 2010;58(2):147-53.
- Yu J, Liu M, Mijiti X, Liu H, Wang Q, Yin C, et al. Association of single-nucleotide polymorphisms in the VDR gene with tuberculosis and infection of Beijing genotype Mycobacterium tuberculosis. Infect Drug Resist 2023;16:3157-69. doi:10.2147/ idr.S407595
- Kang TJ, Jin SH, Yeum CE, Lee SB, Kim CH, Lee SH, et al. Vitamin D receptor gene TaqI, BsmI and FokI polymorphisms in Korean patients with tuberculosis. Immune Netw 2011;11(5):253-7. doi:10.4110/in.2011.11.5.253
- Alexandra SG, Georgiana DC, Nicoleta C, Daniela PM, Traian S, Veronica S. ApaI and TaqI polymorphisms of VDR (vitamin D receptor) gene in association with susceptibility to tuberculosis in the Romanian population. Rom Biotechnol Lett 2013;18(1):7956-62.
- Salimi S, Farajian-Mashhadi F, Alavi-Naini R, Talebian G, Narooie-Nejad M. Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis. Biomed Rep 2015;3(2):189-94. doi:10.3892/br.2014.402
- Rathored J, Sharma SK, Singh B, Banavaliker JN, Sreenivas V, Srivastava AK, et al. Risk and outcome of multidrug-resistant tuberculosis: vitamin D receptor polymorphisms and serum 25(OH)D. Int J Tuberc Lung Dis 2012;16(11):1522-8. doi:10.5588/ijtld.12.0122
- Lee SW, Chuang TY, Huang HH, Liu CW, Kao YH, Wu LS. VDR and VDBP genes polymorphisms associated with susceptibility to tuberculosis in a Han Taiwanese population. J Microbiol Immunol Infect 2016;49(5):783-7. doi:10.1016/j. jmii.2015.12.008
- Silva-Ramírez B, Saenz-Saenz CA, Bracho-Vela LA, Peñuelas- Urquides K, Mata-Tijerina V, Escobedo-Guajardo BL, et al. Association between vitamin D receptor gene polymorphisms and pulmonary tuberculosis in a Mexican population. Indian J Tuberc 2019;66(1):70-5. doi:10.1016/j.ijtb.2018.04.005
- Zhang X, Zhang Y, Yin Z, Xia W, Mao H, Bao L, et al. Relationship between vitamin D receptor gene polymorphisms and second acid-fast bacilli smear-positive during treatment for tuberculosis patients. Infect Genet Evol 2022;103:105324. doi:10.1016/j.meegid.2022.105324
- Sibuea C, Pardosi M, Simbolon I, Tampubolon P. Polimorfisme gen vitamin D receptor (VDR) BsmI pada multi drug resistant tuberculosis (MDR TB). NJM 2023;9(1):49-52. doi:10.36655/ njm.v9i1.1199
- Joshi L, Ponnana M, Penmetsa SR, Nallari P, Valluri V, Gaddam S. Serum vitamin D levels and VDR polymorphisms (BsmI and FokI) in patients and their household contacts susceptible to tuberculosis. Scand J Immunol 2014;79(2):113-9. doi:10.1111/ sji.12127
- Ates O, Dolek B, Dalyan L, Musellim B, Ongen G, Topal- Sarikaya A. The association between BsmI variant of vitamin D receptor gene and susceptibility to tuberculosis. Mol Biol Rep 2011;38(4):2633-6. doi:10.1007/s11033-010-0404-8
- Harishankar M, Selvaraj P. Influence of CDX2 and TaqI gene variants on vitamin D3 modulated intracellular chemokine positive T-cell subsets in pulmonary tuberculosis. Clin Ther 2017;39(5):946-57. doi:10.1016/j.clinthera.2017.04.003
- Siregar Y, Sinaga BY. Is there any impact of VDR gene polymorphism in Bataks Ethnic to have tuberculosis? J Health Sci 2017;5:1-8. doi:10.17265/2328-7136/2017.01.001
- Fernández-Mestre M, Villasmil Á, Takiff H, Alcalá ZF. NRAMP1 and VDR gene polymorphisms in susceptibility to tuberculosis in venezuelan population. Dis Markers 2015;2015:860628. doi:10.1155/2015/860628
- Khan M, Bushara NZ, Kumar M, Mandal RK, Ahmad S, Khan S. Frequency of healthy control genotype of VDR gene polymorphisms in the Saudi population of the Ha’il region: a comparative study with worldwide population. J Environ Pathol Toxicol Oncol 2024;43(1):61-9. doi:10.1615/ JEnvironPatholToxicolOncol.2023048813
- Huang Y, Qiu N, Wang Y, Ouyang W, Liang M. Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis. Per Med 2024;21(4):219-25. doi:10.1080/17410541.2024.2366152
- Ismail I, Ratnawati R, Machmud Y, Harliani H. Impact of vitamin D receptor gene polymorphism on susceptibility to tuberculosis infection in Indonesia. Monaldi Arch Chest Dis 2025. doi:10.4081/monaldi.2025.3329
- Shah S, Priyanka, Sharma S. An updated trial sequential meta-analysis of vitamin D receptor gene polymorphism (FokI, BsmI, TaqI and ApaI) and risk to tuberculosis. Indian J Clin Biochem 2024;39(1):60-72. doi:10.1007/s12291-022-01091-3
- Yerezhepov D, Gabdulkayum A, Akhmetova A, Kozhamkulov UA, Rakhimova SE, Kairov UY, et al. Vitamin D status, VDR, and TLR polymorphisms and pulmonary tuberculosis epidemiology in Kazakhstan. Nutrients 2024;16(4):558. doi:10.3390/nu16040558
- Das D, Chaubey G. Reassessing the association of VDR and its polymorphisms with tuberculosis in global populations. bioRxiv [Preprint]. December 11, 2023. Available from: https://www. biorxiv.org/content/10.1101/2023.12.09.570914v1.
- Varahram M, Farnia P, Anoosheh S, Kazampour M, Merza M, Saeif S, et al. The VDR and TNF-α gene polymorphisms in Iranian tuberculosis patients: the study on host susceptibility. Iran J Clin Infect Dis 2009;4(4):207-13.
- Dwivedi SD, Yadav SD, Sahu D, Singh D, Singh MR. Revolutionizing genetic diagnostics: innovative techniques for inherited disease detection. Gene Rep 2024;36:101963. doi:10.1016/j.genrep.2024.101963
- Babb C, van der Merwe L, Beyers N, Pheiffer C, Walzl G, Duncan K, et al. Vitamin D receptor gene polymorphisms and sputum conversion time in pulmonary tuberculosis patients. Tuberculosis (Edinb) 2007;87(4):295-302. doi:10.1016/j. tube.2007.03.001