Genetic Aspects of Bone Remodelling in Children under One Year of Age in the Kazakh Population
Abstract
Background
This study investigates genetic markers, such as polymorphisms in the vitamin D receptor (VDR) and receptor activator of nuclear factor-kappa B ligand (RANKL) genes, to determine if they can serve as prognostic indicators for the development of bone-tissue pathologies in childhood.
Material and Methods
The study included 104 healthy children aged from birth to 12 months. Genetic testing was conducted to identify polymorphisms in the VDR and RANKL genes.
Results
78% of the 104 children from the Kazakh population showed a decrease in the level of vitamin D, with particularly promising results in infants seven to 12 months old. Indicators of total calcium and phosphorus in children were uninformative for bone-metabolism analysis. The homozygous C/C type according to RANKL rs9594759 was detected in 17% of children; the homozygous T/T variant according to RANKL rs9594738 was detected in 28%; the homozygous T/T according to VDR rs2228570 was detected in 17%; and the homozygous A/A according to VDR rs2228570 was detected in 4%. These variant polymorphisms are associated with reduced bone density. RANKL rs9594738 and RANKL rs9594759 have shown a moderate connection with vitamin D serum concentration.
Conclusion
A relatively strong relationship was found between the T/T and C/T genotypes of the VDR gene and the concentration of vitamin D falling below the norm, and there is a direct relationship between vitamin D levels and bone pathology risk in children.
© 2025 Akmaral Zhumalina, Irina Kim, Balash Tusupkaliev, Mairamkul Zharlykasinova, Svetlana Sakhanova, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.