Vitamin D levels and VDR gene polymorphisms in young men and women: a pilot study

Ovcharenko A.M., Ershova O.B., Shubin L.B., Tsareva I.N.

Yaroslavl State Medical University, Yaroslavl, Russia

Background: The VDR gene is located on chromosome 12, has 11 exons, and approximately 75 kilobases of genomic DNA. It encodes the vitamin D receptor. The receptor is located in the cell nucleus and binds to the active form of vitamin D, 1,25-dihydroxyvitamin D. Binding of vitamin D to the receptor triggers vitamin D functions, including regulation of phosphorus-calcium metabolism, modulation of the immune response, effects on antitumor activity, cardiovascular function, and other effects. The VDR gene has sequence variations—single nucleotide polymorphisms, or SNPs. Polymorphisms, or SNPs, of the VDR gene do not encode disease but affect receptor function. The most studied polymorphisms include FokI, Bsml, ApaI, and TaqI. It is believed that polymorphisms in the FokI region may play a role in the absorption of cholecalciferol.
Objective: Evaluation of a possible association between the development of vitamin D deficiency and single nucleotide polymorphisms of the VDR gene in young men and women, as well as the effectiveness of treating D deficiency with cholecalciferol.
Materials and methods: 91 men and women were laboratory tested. VDR: rs1544410 (BsmI, A>G) и rs10735810 (FokI, A>G) were determined in whole blood using polymerase chain reaction. The base 25-hydroxyvitamin D level  was measured by immunochromatographic assay. Additional patients, who had vitamin D deficiency were laboratory tested again after colecalciferol treatment. 
Results: As for SNP BsmI, the following results are shown: in individuals with insufficiency/deficiency of  vitamin D (<30 ng/ml) – genotype AA – 16.33%, individuals with normal level of vitamin D (≥30 ng/ml) genotype AA – 19.05%. For SNP FokI the phenotype GG  was presented in 32.65% cases in individuals with insufficiency/deficiency of  vitamin D (<30 ng/ml) and 23.81% in individuals with normal level of vitamin D (≥30 ng/ml). Restoration of 25-hydroxyvitamin D level was not dependent on variant of genotype in SNPs BsmI and FokI of the gene VDR. Failure to achieve target level 25-hydroxyvitamin D  also was not associated with the presence of the AA genotype  in the SNP BsmI. However, among individuals who didn’t reach the target level 25-hydroxyvitamin D was found as GG genotype in SNP FokI in more than half of the subjects – 54.55% cases. This result relies on the association between the restoration of 25-hydroxyvitamin D and FokI polymorphism of the gene VDR. Statistical analysis revealed a significant association for the FokI polymorphism. The overdominant inheritance model of the heterozygous AG genotype was associated with a 2.45-hold increased risk of vitamin D deficiency compared to homozygous (P=0.036).
Conclusion: Based on the analysis of VDR polymorphisms associations a curtain relationship with vitamin D level was established in young people of 18 to 35 years. The statistical significance associated was demonstrated between the FokI polimorphism of gene VDR and vitamin D status. In the overdominant inheritance model, the heterozygous AG genotype was associated with a 2.45-fold increased risk of vitamin D deficiency compared with homozygous genotypes (OR=2.45; 95% CI: 1.05–5.76; P=0.036), suggesting an influence of heterozygous status for the FokI polymorphism on vitamin D metabolism. The results require confirmation in independent samples.

For citations: Ovcharenko A.M., Ershova O.B., Shubin L.B., Tsareva I.N. Vitamin D levels and VDR gene polymorphisms in young men and women: a pilot study. Pharmateca. 2026;33(2):71-81. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2026.2.71-81

Authors’ contribution: Ovcharenko A.M. – research, data collection and processing, writing, and paper design. Ershova O.B. – research concept, research supervision, proofreading and writing, and paper design. Tsareva I.N. – laboratory genetic testing. Shubin L.B. – statistical analysis of the data and paper design.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.
Ethical Approval: The study was approved by the Ethics Committee of the Yaroslavl State University of the Ministry of Health of the Russian Federation, extract from protocol No. 64 dated October 13, 2023.
Patient Consent for Publication: All patients provided informed consent for the publication of their data.
Authors’ Data Sharing Statement: The data supporting the findings of this study are available upon request from the corresponding author after approval from the principal investigator.

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About the Authors

Alena M. Ovcharenko, Teaching Assistant at the Department of Therapy, Faculty of Pediatrics, Yaroslavl State Medical University, Yaroslavl, Russia;
alenaovcharenko111@gmail.com, ORCID: https://orcid.org/0009-0008-2402-8258, SPIN code: 1253-2419
Olga B. Ershova, Dr. Sci. (Med.), Professor, Professor of the Department of Therapy named after E.N. Dormidontova Institute of Postgraduate Education, Yaroslavl State Medical University, Yaroslavl, Russia; yarosteoporosis@list.ru, ORCID: https://orcid.org/0000-0001-7167-2187, SPIN: 8238-8201 (corresponding author)
Leonid B. Shubin, Cand. Sci. (Med.), Associate Professor, Associate Professor of the Department of Public Health and Healthcare, Yaroslavl State Medical University, Yaroslavl, Russia; lbsh@yandex.ru, ORCID: https://orcid.org/0000-0003-4562-7731, SPIN: 8021-7289
Irina N. Tsareva, Medical Laboratory Scientist of the Highest Qualification Category, Head of the Clinical Diagnostic Laboratory, Yaroslavl State Medical University, Yaroslavl, Russia; arina1mai@rambler.ru

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