THE ROLE OF BSMI AND APAI POLYMORPHISMS OF THE VITAMIN D RECEPTOR GENE IN THE DEVELOPMENT OF LOW BONE MINERAL DENSITY IN ADULTS. LITERATURE REVIEW
Background. Osteoporosis is a systemic skeletal disease characterized by a decrease in bone mineral density (BMD), which leads to an increased risk of fractures and greater bone fragility [1]. The global prevalence of osteoporosis is estimated to be 18.3%. Gender and genetics are non-modifiable risk factors for osteoporosis, whereas other factors (modifiable ones) can be influenced, such as diet, physical activity, and lifestyle. Vitamin D plays a crucial role in bone metabolism and is essential for the prevention of osteoporosis (OP). In recent years, numerous studies have been conducted to explore the correlation between VDR gene variants and osteoporosis risk, suggesting the presence of ethnic differences in the genetic association with osteoporosis. However, there is still no definitive evidence confirming their impact in the studies conducted so far.
The aim was of this review is to examine the available literature on the role of vitamin D and the association of BsmI and ApaI polymorphisms in the development of low mineral density.
Search Strategy: A systematic search was conducted in the electronic databases PubMed and Google Scholar using the following keywords: “osteoporosis,” “BsmI,” “ApaI,” “VDR gene,” “bone mineral density, and “vitamin D.” The search was limited to English-language studies published between 2014 and 2024. A total of 24 sources were reviewed. The article selection for this review was conducted by the authors, who identified relevant studies and excluded those that did not meet the inclusion criteria.
Conclusion. Although some studies on various populations have identified an association between several VDR gene polymorphisms and bone mineral density (BMD), many questions in this area remain unresolved. Research on VDR gene polymorphisms has shown that their impact on low BMD can yield different results across populations.
Madina Madiyeva1, https://orcid.org/0000-0001-6431-9713
Alida Kaskabayeva1, https://orcid.org/0000-0002-5184-214X
Nurgul Kultumanova1, https://orcid.org/0009-0005-2475-2009
Gulzhan Bersimbekova1, https://orcid.org/0000-0002-9416-5054
Gulnur Kanapiyanova1, https://orcid.org/0000-0002-8102-5220
Zhanna Sarmanova1, https://orcid.org/0009-0000-4728-511X
Makpal Sabyrkyzy1, https://orcid.org/0009-0006-8902-7593
1 NCJSC «Semey Medical University»,
Semey, Republic of Kazakhstan.
1. Ahmad I., Jafar T., Mahdi F. et al. Association of Vitamin D Receptor (FokI and BsmI) Gene Polymorphism with Bone Mineral Density and Their Effect on 25-Hydroxyvitamin D Level in North Indian Postmenopausal Women with Osteoporosis. Indian J Clin Biochem. 2018. 33(4):429-437. https://doi.org/10.1007/s12291-017-0706-x
2. Ansari M.G.A., Mohammed A.K., Wani K.A., Hussain S.D., Alnaami A.M., Abdi S., Aljohani N.J., Al-Daghri N.M.. Vitamin D. Receptor Gene Variants Susceptible to Osteoporosis in Arab Post-Menopausal Women. Curr Issues Mol Biol. 2021 Sep 27. 43(3):1325-1334. https://doi.org/10.3390/cimb43030094
3. Chen B., Zhu W.F., Mu Y.Y., Liu B., Li H.Z., He X.F. Association between vitamin D receptor BsmI, FokI, and Cdx2 polymorphisms and osteoporosis risk: an updated meta-analysis. Biosci Rep. 2020 Jul 31.40(7):BSR20201200. doi: 10.1042/BSR20201200.
4. Dehghan M., Pourahmad-Jaktaji R. The Effect of Some Polymorphisms in Vitamin D Receptor Gene in Menopausal Women with Osteoporosis. J Clin Diagn Res. 2016 Jun. 10(6):RC06-10. doi: 10.7860/JCDR/2016/17147.8006
5. Fleet J.C. Vitamin D-Mediated Regulation of Intestinal Calcium Absorption. Nutrients. 2022 Aug 16.14(16):3351. https://doi.org/10.3390/nu14163351.
6. Gao J., Wang L., Zhu J. Influence of BsmI polymorphism in vitamin D receptor gene on the risk of fracture in Caucasian populations: a meta-analysis. Int J Clin Exp Med. 2015 Jan 15;8(1):589-97.
7. Gasperini B., Visconti V.V., Ciccacci C., Falvino A., Gasbarra E., Iundusi R., Brandi M.L., Botta A., Tarantino U. Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study. Genes (Basel). 2023 Feb 21.14(3):542. https://doi.org/10.3390/genes14030542
8. 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):219-225 https://doi.org/10.1080/17410541.2024.2366152
9. Israr Ahmad, Tabrez Jafar, Farzana Mahdi, Keerti Ameta, Md. Arshad, Siddharth Kumar Das, Shah Waliullah, Imran Rizvi, Abbas Ali Mahdi. Association of vitamin D receptor gene polymorphism (TaqI and Apa1) with bone mineral density in North Indian postmenopausal women. Gene, Volume 659, 2018, Pages 123-127, ISSN 0378-1119, https://doi.org/10.1016/j.gene.2018.03.052.
10. Kanis J.A., McCloskey E.V., Harvey N.C., Johansson H., Leslie W.D. Intervention Thresholds and the Diagnosis of Osteoporosis. J Bone Miner Res. 2015 Oct.30(10):1747-53. doi: 10.1002/jbmr.2531.
11. Marozik P., Rudenka A., Kobets K., Rudenka E. Vitamin D. Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women. Nutrients. 2021.13(3):837. Published 2021 Mar 4. https://doi.org/10.3390/nu13030837
12. Marozik P.M., Tamulaitiene M., Rudenka E. et al. Association of Vitamin D Receptor Gene Variation With Osteoporosis Risk in Belarusian and Lithuanian Postmenopausal Women. Front Endocrinol (Lausanne). 2018. 9:305. Published 2018 Jun 5. https://doi.org/10.3389/fendo.2018.00305
13. Meng D., Ding X., Lan J., et al. Association of vitamin D receptor ApaI gene polymorphism with osteoporosis susceptibility in postmenopausal Han Chinese women in Xinjiang. Biomed Rep. 2018. 9(6):483-490. https://www.spandidos-publications.com/10.3892/br.2018. doi.org/10.3892/br.2018.1155
14. Moran J.M., Pedrera-Canal M., Rodriguez-Velasco F.J., Vera V., Lavado-Garcia J.M., Fernandez P., Pedrera-Zamorano J.D. Lack of association of vitamin D receptor BsmI gene polymorphism with bone mineral density in Spanish postmenopausal women. PeerJ. 2015 Jul 2. 3:e953. doi: 10.7717/peerj.953.
15. Mu Y.Y., Liu B., Chen B., Zhu W.F., Ye X.H., Li H.Z., He X.F. Evaluation of Association Studies and an Updated Meta-Analysis of VDR Polymorphisms in Osteoporotic Fracture Risk. Front Genet. 2022 Jan 7.12:791368. doi: 10.3389/fgene.2021.791368.
16. Rashki Kemmak A., Rezapour A., Jahangiri R., Nikjoo S., Farabi H., Soleimanpour S. Economic burden of osteoporosis in the world: A systematic review. Med J Islam Repub Iran. 2020 Nov 12. 34:154 https://doi.org/10.34171/mjiri.34.154
17. Techapatiphandee M., Tammachote N., Tammachote R., Wongkularb A., Yanatatsaneejit P. "VDR and TNFSF11 polymorphisms are associated with osteoporosis in Thai patients". Biomedical Reports 9, no. 4 (2018): 350-356. https://doi.org/10.3892/br.2018.1137
18. Wang Q., Zhao Sh., Zhou Ya., Zhang Ch. Lack of association between vitamin D receptor genes BsmI as well as ApaI polymorphisms and osteoporosis risk: A pooled analysis on Chinese individuals. https://doi.org/10.1111/1756-185X.13282
19. Wawrzyniak A., Skrzypczak-Zielińska M., Michalak M., Kaczmarek-Ryś M., Ratajczak A.E., Rychter A.M., Skoracka K., Marcinkowska M., Słomski R., Dobrowolska A., Krela-Kaźmierczak I. Does the VDR gene polymorphism influence the efficacy of denosumab therapy in postmenopausal osteoporosis? Front Endocrinol (Lausanne). 2023 Jan 13. 13:1063762. https://doi.org/10.3389/fendo.2022.1063762
20. Wu F., Zhou D., Shen G., Cui Y., Lv Q., Wei F. Association of VDR and OPG gene polymorphism with osteoporosis risk in Chinese postmenopausal women. Climacteric. 2019 Apr. 22(2):208-212. https://doi.org/10.1080/13697137.2018.1554643.
21. Yaghoobi M.M., Samare Gholami A. Association of rs4516035 Polymorphism with Osteoporosis in the Southeastern Iranian Population: A Case-Control Study. J Res Health Sci. 2024. 24(1):e00603. https://doi.org/10.34172/jrhs.2024.138
22. Yang L., Wu L., Fan Y., Ma J. Associations among four polymorphisms (BsmI, FokI, TaqI and ApaI) of vitamin D receptor gene and end-stage renal disease: a meta-analysis. Arch Med Res. 2015 Jan. 46(1):1-7. https://doi.org/10.1016/j.arcmed.2014.11.017
23. Yu M., Chen G.Q., Yu F. Lack of association between vitamin D receptor polymorphisms ApaI (rs7975232) and BsmI (rs1544410) and osteoporosis among the Han Chinese population: A meta-analysis. Kaohsiung J Med Sci. 2016. 32(12):599-606. https://doi.org/10.1016/j.kjms.2016.10.002
24. Zhang L., Yin X., Wang J., Xu D., Wang Y., Yang J., Tao Y., Zhang S., Feng X., Yan C. Associations between VDR Gene Polymorphisms and Osteoporosis Risk and Bone Mineral Density in Postmenopausal Women: A systematic review and Meta-Analysis. Sci Rep. 2018 Jan 17. 8(1):981. https://doi.org/10.1038/s41598-017-18670-7
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Madiyeva M., Kaskabayeva A., Kultumanova N., Bersimbekova G., Kanapiyanova G., Sarmanova Zh., Sabyrkyzy M. The Role of BsmI and ApaI Polymorphisms of the Vitamin D Receptor Gene in the Development of Low Bone Mineral Density in Adults. Literature Review // Nauka i Zdravookhranenie [Science & Healthcare]. 2024. Vol.26 (6), pp. 160-176. doi 10.34689/SH.2024.26.6.017Похожие публикации:
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