The frequency of allelic variants of the VDR gene and the level vitamin D in children under one year old in the Kazakh population

Akmaral Zhumalina 1, Balash Tussupkaliyev 1, Svetlana Sakhanova 2, Irina Kim 1 * , Mairamkul Zharlykassinova 1
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1 No 1 Department of Pediatric Diseases with Neonatology, West Kazakhstan Medical University named after Marat Ospanov, Aktobe, Kazakhstan
2 Scientific and Practical Center, West Kazakhstan Medical University named after Marat Ospanov, Aktobe, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 20, Issue 1, pp. 61-64. https://doi.org/10.23950/jcmk/12931
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ABSTRACT

Introduction: The study of the genetic aspects of bone metabolism disorders in children is a theoretical and practical interest for pediatrics, especially according to the age and ethnic positions. There is a number of gene polymorphisms (primarily the vitamin D receptor (VDR) gene) that determine the norm and pathology of bone tissue formation. Calcium absorption worsens when there is no functional VDR and active forms of vitamin D. As a result the level of bone mineralization decreases. In children such disorders lead to the development of osteopenia.
Objective: To determine the frequency of allelic variants of the VDR gene (rs1544410, rs2228570) and to evaluate its relationship with the level of vitamin D in children under one year old in the Kazakh population.
Material and methods: 197 children under one year of age were examined for vitamin D by electrochemiluminescent immunoassay and genotyping of the VDR polymorphism (rs1544410, rs2228570) by PCR.
Results: It was found out that children with the C allele of the VDR rs2228570 gene have a reduced level of vitamin D by 1.84 times (95% CI 1.10 - 3.07) and CC - by 2.3 times compared with children with normal vitamin D levels.
Statistical analysis by the Kruskal-Wallis method showed that the serum level of vitamin D in AA carriers for the VDR rs1544410 was significantly reduced comparing to the level in GG and GA carriers (p=0.03).
Conclusion: The study confirms the need for further in-depth study of the genetic aspects of bone metabolism disorders in children for the development of personalized medicine.
Keywords: vitamin D, VDR gene polymorphism, children, osteopenia.

CITATION

Zhumalina A, Tussupkaliyev B, Sakhanova S, Kim I, Zharlykassinova M. The frequency of allelic variants of the VDR gene and the level vitamin D in children under one year old in the Kazakh population. J CLIN MED KAZ. 2023;20(1):61-4. https://doi.org/10.23950/jcmk/12931

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