The influence of VDR gene polymorphisms on the state of the skeletal system in children with gastroduodenal pathology

Authors

DOI:

https://doi.org/10.15574/PS.2025.2(87).3943

Keywords:

bone mineral density, VDR gene polymorphism, gastroduodenal pathology, children

Abstract

Bone health, which is formed during childhood, largely depends on bone mineral density (BMD). Gastroduodenal pathology in children can impair nutrient absorption, which affects BMD. Genetic factors, particularly polymorphisms of the vitamin D receptor (VDR) gene, play a significant role in the regulation of BMD.

Aim - to study the relationship between BMD indicators and the ApaI and TaqI polymorphisms of the VDR gene in children with diseases of the gastroduodenal area.

Materials and methods. A total of 146 children aged 6 to 17 years with gastroduodenal pathology (main group) and 38 apparently healthy children (control group) were examined. BMD was determined using ultrasound densitometry. Genotyping of the ApaI and TaqI polymorphisms of the VDR gene was performed for 104 children from the main group and all children in the control group using the polymerase chain reaction method. Statistical processing of the research results was carried out using the application software packages for statistical analysis of medical and biological research data: «Microsoft Excel», «IBM SPSS Statistics V27» and «Statistica Version 10».

Results. A statistically significant decrease in the median BMD was found in the main group of children compared to the control group - respectively 84% versus 92,5%. A statistically significant difference was recorded in the distribution of genotypes of the ApaI polymorphism between the main and control groups with a predominance of the aa genotype in the main group. Among patients with gastroduodenal pathology, a statistically significant difference was established between subgroups based on BMD levels and the ApaI and TaqI polymorphisms. The AA and Aa genotypes of the ApaI polymorphism and the TT genotype of the TaqI polymorphism were associated with reduced BMD, whereas the aa (ApaI) and tt (TaqI) genotypes were associated with normal BMD indicators.

Conclusions. Children with gastroduodenal pathology have a high risk of decreased BMD. The AA and Aa genotypes of the ApaI polymorphism and the TT genotype of the TaqI polymorphism of the VDR gene are genetic predictors of reduced BMD in this patient cohort, while the aa (ApaI) and tt (TaqI) genotypes exhibit a protective effect.

This study was conducted in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the local ethics committee of the institution. Informed consent was obtained from all patients (parents or legal guardians).

The author declares no conflict of interest.

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Published

2025-06-28

Issue

Section

Original articles. Abdominal surgery