ASSOCIATION OF ALLELIC VARIANTS OF COMBINED GENETIC RISK OF VITAMIN D DEFICIENCY WITH SEVERE IDIOPATHIC SCOLIOSIS IN RUSSIAN PATIENTS

  • K.G. Buslov H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery. 64–68 Parkovaya str., Saint Petersburg, Pushkin 196603 Russian Federation
  • S.E. Khalchitsky H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery. 64–68 Parkovaya str., Saint Petersburg, Pushkin 196603 Russian Federation https://orcid.org/0000-0003-1467-8739
  • M.V. Sogoyan H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery. 64–68 Parkovaya str., Saint Petersburg, Pushkin 196603 Russian Federation
  • S.V. Vissarionov H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery. 64–68 Parkovaya str., Saint Petersburg, Pushkin 196603 Russian Federation
  • Yu.V. Komov Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
  • E.G. Batotsyrenova Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
  • I.A. Srago Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
  • V.A. Kashuro Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
  • E.N. Krasnikova Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
  • T.Yu. Kretser Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
DOI: https://doi.org/10.56871/RBR.2025.33.74.001
Keywords: idiopathic scoliosis, vitamin D deficiency, CYP2R1, GC, mutation

Abstract

Introduction. Idiopathic scoliosis (IS) is a common spinal disorder that affects 2–4% of people worldwide. There is a large research array investigating the relationship between blood vitamin D levels and IS. The purpose of the work — to study the association between polymorphic variants in the CYP2R1 and GC genes and severe idiopathic scoliosis (SIS) in Russian patients. Materials and methods. Patients with IS and controls were selected based on the results of preliminary clinical studies. Blood samples were genotyped using allele-specific polymerase chain reaction (PCR). Results. The distribution of CYP2R1 rs2060793 alleles and the distribution of CYP2R1 rs10766197 genotypes and alleles were statistically different (p <0.05) between patients and controls. No statistically significant differences were found between TIS and the control group for single nucleotide variations in CYP2R1 rs10741657 and GC rs4588, rs842999, rs2282679. Stratification of the combined genetic risk (GSR) score for vitamin D deficiency into three subgroups was performed by dividing the score according to the sum of risk alleles. A statistically significant difference (p <0.05) was found between the groups. Paradoxically, low GSR was detected in patients with TIS more often than in the controls (OR=2.28). The lowest GSR value (0 alleles) was found only in the TIS group, but not in the control group: 0/92 (0%) and 8/91 (9%), respectively. Conclusions. The results obtained in this study are not sufficient to make any clinical decision on the significance of testing vitamin D metabolites in patients with IS or the therapeutic use of vitamin D preparations. Further studies are needed to determine the influence of genetic factors of vitamin D metabolism on the progression of idiopathic scoliosis, prognosis of its course and choice of treatment tactics.

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Published
2025-07-07
How to Cite
Buslov, K., Khalchitsky, S., Sogoyan, M., Vissarionov, S., Komov, Y., Batotsyrenova, E., Srago, I., Kashuro, V., Krasnikova, E., & Kretser, T. (2025). ASSOCIATION OF ALLELIC VARIANTS OF COMBINED GENETIC RISK OF VITAMIN D DEFICIENCY WITH SEVERE IDIOPATHIC SCOLIOSIS IN RUSSIAN PATIENTS. Russian Biomedical Research, 10(2), 7-17. https://doi.org/10.56871/RBR.2025.33.74.001
Issue
Vol 10 No 2 (2025)
Section
ORIGINAL PAPERS

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