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https://doi.org/10.14300/mnnc.2026.00003

Associations between polymorphic variants of genes responsible for bone mineral density and phenotypes of inflammatory bowel diseases

[Pediatrics]
Maria Erohina; Elena Ivanovna Kondratieva; Elena Loshkova; Ekaterina Yablokova;

The aim of the study was to establish associative links between single nucleotide polymorphic variants of genes VDR, CALCR and COL1A1 and clinical phenotypes of inflammatory bowel diseases and their effect on the state of bone metabolism in children. It has been shown that gene polymorphisms of the VDR (TaqI) CC and (BsmI) AA genes are associated with an increased risk of Crohn’s disease, (TaqI) TT and (BsmI) GG are associated with minimal disease activity, (ApaI) GT is associated with the development of perianal lesions (OR=4.4). Patients with genotypes GG (BsmI) and TT (FokI) of the VDR gene had the lowest calcidiol values; carriers of genotypes GG COL1A1 and TT CALCR were more likely to have a body weight deficiency on the background of ulcerative colitis. It has been established that polymorphisms of the VDR, COL1A1, and CALCR genes are not markers of a general predisposition to inflammatory bowel diseases, but they influence individual phenotypic manifestations: disease activity, nutritional status disorders, perianal lesions, and vitamin D metabolism.

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References:
1. Кондратьева Е. И., Лошкова Е. В., Ильенкова Н. А., Мизерницкий Ю. Л., Климов Л. Я. [и др.]. Роль гена VDR в
формировании клинических проявлений, осложнений и ответа на терапию при бронхиальной астме. Вопросы практической педиатрии. 2023;18(1):43-54. [Kondrateva E. I., Loshkova E. V., Ilenkova N. A., Mizernickii Yu. L., Klimov L. Ya. [et al.]. The role of the VDR gene in the formation of clinical manifestations, complications, and response to therapy in bronchial asthma. Voprosy prakticheskoj pediatrii. – Issues of practical pediatrics. 2023;18(1):43-54. (In Russ.)]. https://doi.org/10.20953/1817-7646-2023-1-43-54
2. Selvaraj V., Sekaran S., Dhanasekaran A., Warrier S. Type 1 collagen: Synthesis, structure and key functions
in bone mineralization. Differentiation. 2024;136:100757. https://doi.org/10.1016/j.diff.2024.100757
3. Jówko E., Długołęcka B., Cieśliński I., Kotowska J. Polymorphisms in Genes Encoding VDR, CALCR and Antioxidant Enzymes as Predictors of Bone Tissue Condition in Young, Healthy Men. Int. J. Mol. Sci. 2023;24(4):3373.
https://doi.org/10.3390/ijms24043373
4. van Rheenen P. F., Aloi M., Assa A., Bronsky J., Escher J. C. [et al.]. The Medical Management of Paediatric Crohn’s
Disease: an ECCO-ESPGHAN Guideline Update. J. Crohns Colitis. 2021;15(2):jjaa161. https://doi.org/10.1093/ecco-jcc/jjaa161
5. Turner D., Ruemmele F. M., Orlanski-Meyer E., Griffiths A. M., de Carpi J. M. [et al.]. Management of Paediatric Ulcerative Colitis, Part 1,2: Ambulatory Care-An Evidence-based Guideline From European Crohn’s and Colitis Organization and European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J. Pediatr. Gastroenterol. Nutr. 2018;67(2):257-291,292-310. https://doi.org/10.1097/MPG.0000000000002035
6. Demay M. B., Pittas A. G., Bikle D. D., Diab D. L., Kiely M. E. [et al.]. Vitamin D for the Prevention of Disease: An Endocrine Society Clinical Practice Guideline. J. Clin. Endocrinol. Metab. 2024;109(8):1907-1947. https://doi.org/10.1210/clinem/dgae290
7. Sun X., Wu Y., Han C., Zhang N., Chen X. [et al.]. Intestinal epithelial vitamin D receptor defense against inflammatory bowel disease via regulating microfold cells. Immunol. Lett. 2024;270:106925.
https://doi.org/10.1016/j.imlet.2024.106925
8. Kafentzi T., Tsounis E. P., Tourkochristou E., Avramopoulou E., Aggeletopoulou I. [et al.]. Genetic Polymorphisms
(ApaI, FokI, BsmI, and TaqI) of the Vitamin D Receptor (VDR) Influence the Natural History and Phenotype of Crohn’s Disease. Int. J. Mol. Sci. 2025;26(5):1848. https://doi.org/10.3390/ijms26051848
9. Jiang P., Zheng C., Xiang Y., Malik S., Su D. [et al.]. The involvement of TH17 cells in the pathogenesis of IBD.
Cytokine Growth Factor Rev. 2023;69:28-42. https://doi.org/10.1016/j.cytogfr.2022.07.005
10. Kim K. B., Kim H. W., Lee J. S., Yoon S. M. [Inflammatory Bowel Disease and Vitamin D]. Korean J. Gastroenterol.
2020;76(6):275-281. https://doi.org/10.4166/kjg.2020.160
11. Cusato J., Cafasso C., Antonucci M., Palermiti A., Manca A. [et al.]. Correlation between Polymorphisms of Vitamin D Metabolism Genes and Perianal Disease in Crohn’s Disease. Biomedicines. 2024;12:320. https://doi.org/10.3390/biomedicines12020320
12. Gisbert-Ferrándiz L., Llau J., Ortiz-Masia D., Cosín-Roger J., Macias-Ceja D. C. [et al.]. ApaI Polymorphism in the Vitamin D Receptor Gene Decreases the Risk of Perianal Fistulas in Crohn’s Disease. Nutrients. 2024;16(20):3485.
https://doi.org/10.3390/nu16203485
13. Sinharay M., Dasgupta A., Karmakar A. Association between Vitamin D Receptor Gene Polymorphism (Fok 1), Vitamin D Status and Autoimmune Thyroiditis. Mymensingh Medical Journal. 2024;33(3):914-922.
14. Кондратьева Е. И., Лошкова Е. В., Ильенкова Н. А., Мизерницкий Ю. Л., Климов Л. Я. [и др.]. Роль гена VDR
в формировании клинических проявлений, осложнений и ответа на терапию при бронхиальной астме. Вопросы практической педиатрии. 2023;18(1):43-54. [Kondrateva E. I., Loshkova E. V., Ilenkova N. A., Mizernitskii Yu. L., Klimov L. Ya. [et al.]. The role of the VDR gene in the formation of clinical manifestations, complications and response to therapy in bronchial asthma. Voprosy prakticheskoy pediatrii. – Issues of Practical Pediatrics. 2023;18(1):43-54. (In Russ.)].
https://doi.org/10.20953/1817-7646-2023-1-43-54
15. Лошкова Е. В., Кондратьева Е. И., Климов Л. Я., Подчерняева Н. С., Ильенкова Н. А. [и др.]. Ассоциации гена VDR с клиническими проявлениями, осложнениями и обеспеченностью витамином D на фоне ювенильного идиопатического артрита у детей. Вопросы детской диетологии. 2023;21(3):42-52. [Loshkova E. V., Kondrateva E. I., Klimov L. Ya., Podchernyaeva N. S., Ilenkova N. A. [et al.]. Associations of the VDR gene with clinical manifestations, complications, and vitamin D
supplementation in juvenile idiopathic arthritis in children. Voprosy detskoj dietologii. – Issues of pediatric dietetics.
2023;21(3):42-52. (In Russ.)]. https://doi.org/10.20953/1727-5784-2023-3-42-52
16. Zhang K., Yang J., Yang Q. Q., Guo J. A., Huang Q. H. [et al.]. ER stress genes (COL1A1, LOXL2, VWF) predicts
IKK-16 as a Candidate therapeutic target for colitis-related inflammation and fibrosis suppression. Front. Immunol.
2025;16:1587860. https://doi.org/10.3389/fimmu.2025.1587860
17. Pawlak M., Kałuzińska-Kołat Ż., Pasieka Z. W., Kołat D., Płuciennik E. The critical role of COL1A1 revealed by integrated bioinformatics analysis of differentially-expressed genes in colorectal cancer and inflammatory bowel
disease. Comput. Biol. Med. 2025;190:110116. https://doi.org/10.1016/j.compbiomed.2025.110116
18. Jabłońska B., Mrowiec S. Nutritional Status and Its Detection in Patients with Inflammatory Bowel Diseases. Nutrients. 2023;15(8):1991. https://doi.org/10.3390/nu15081991

Keywords: polymorphism of VDR, CALCR, COL1A1 genes, phenotype, inflammatory bowel diseases, Crohn’s disease, ulcerative colitis, children, bone mineral density, bone metabolism