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Smagina I.V.

Altai State Medical University;
Regional Clinical Hospital

Lunev K.V.

Altai State Medical University

Elchaninova S.A.

Altai State Medical University

Elchaninova E.Yu.

Altai State Medical University

Association of vitamin D metabolism enzyme gene polymorphisms with multiple sclerosis risk: pilot study

Authors:

Smagina I.V., Lunev K.V., Elchaninova S.A., Elchaninova E.Yu.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(7‑2): 70‑74

DOI: 10.17116/jnevro202112107270

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Table of contents

ASSOCIATION OF VITAMIN D METABOLISM ENZYME GENE POLYMORPHISMS WITH MULTIPLE SCLEROSIS RISK: PILOT STUDY
ASSOCIATION OF VITAMIN D METABOLISM ENZYME GENE POLYMORPHISMS WITH MULTIPLE SCLEROSIS RISK: PILOT STUDY

To cite this article:

Smagina IV, Lunev KV, Elchaninova SA, Elchaninova EYu. Association of vitamin D metabolism enzyme gene polymorphisms with multiple sclerosis risk: pilot study. S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(7‑2):70‑74. (In Russ.)
https://doi.org/10.17116/jnevro202112107270

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
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Abstract:

OBJECTIVE

To evaluate the association polymorphisms in genes coding for enzymes involved in vitamin D metabolism CYP27B1 (rs703842) and CYP24A1 (rs2248359) with the risk of multiple sclerosis (MS).

MATERIAL AND METHODS

Ninety Caucasian patients with remitting MS and 87 volunteers without MS, born and living in the Altai region of Russia, participated in the study. Genotyping was performed by the TaqMan probe method.

RESULTS

No association of MS with genotypes or alleles of CYP24A1 (rs2248359) is found. CYP27B1C (rs703842) is associated with the risk of MS in women. The TC genotype CYP27B1C (rs703842) is associated with an increased risk of MS (Odd Ratio 3.43; 1.48—7.93, p=0.004), while the TT genotype, on the contrary, has a protective effect on the susceptibility to MS (Odd Ratio 0.31; 0.14—0.72, p=0.005).

CONCLUSION

The results indicate an increased risk of MS in female carriers of the TC genotype CYP27B1 (rs703842) and a low probability of the contribution of the CYP24A1 polymorphism (rs2248359) to the predisposition to MS in Caucasians of the Altai region.

Keywords:

multiple sclerosis
gene
CYP27B1
CYP24A1
vitamin D

Authors:

Smagina I.V.

Altai State Medical University;
Regional Clinical Hospital

Lunev K.V.

Altai State Medical University

Elchaninova S.A.

Altai State Medical University

Elchaninova E.Yu.

Altai State Medical University

Received:

29.04.2021

Accepted:

30.04.2021

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References:

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