Idiopathic short stature: characteristics of polymorphism of the Taql gene of vitamin D receptor
DOI:
https://doi.org/10.15574/SP.2023.136.14Keywords:
vitamin D, vitamin D receptor gene, children, idiopathic short stature, growth hormone, vitamin D receptor polymorphic locus rs731236 TaglAbstract
The causes of idiopathic short stature (IS) are diverse and not well understood, including polymorphisms of the vitamin D receptor (VDR) gene, dysfunction of growth hormone (GH) secretion, or certain structural abnormalities of the GH cannot be denied.
The Taql polymorphism is located at the exon-intron junction and can potentially affect the stability of the VDR gene mRNA and, consequently, the child's height.
Purpose - to study of the influence of the Taql polymorphism of the VDR gene in children with IS on certain indicators of bone metabolism.
Materials and methods. We studied 22 children aged 10.68±3.28 years diagnosed with idiopathic short stature. The following data were taken into account: sex and age of the patient, anthropometric data, blood vitamin D level, bone age, basal and after stimulation tests, and Taql polymorphism of the VDR gene. All data were analyzed by non-parametric methods of variational statistics using the computer program MedCals (2006).
Results. All children with IS had low vitamin D levels, regardless of the Taql polymorphic locus of the vitamin D receptor gene. All children with IS, regardless of the Taql polymorphic locus of the vitamin D receptor gene, were found to have low vitamin D levels. The basal level of GH in all patients was low, while the stimulated level of GH was normal in all patients.
Conclusions. In the group of patients with IS, the frequency of the T/C (TaqI T/C, g.65058 T>C) genotype is 1.63 times higher than in the group of healthy subjects. Carriage of allele C of the polymorphic locus rs731236 Tagl of the VDR gene is significantly associated with the risk of developing idiopathic short stature - OR (Odds ratio) =1.68 (95% CI (confidence interval): 1.41-2.01; p<0.001), and in the presence of the T/C genotype the risk of this pathology is significantly high - OR=3.78 (95% CI: 1.23-11.63; p<0.02). Vitamin D deficiency was found in children with the T/T polymorphism, and vitamin D deficiency was found in patients with the T/C and C/C polymorphisms.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors.
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