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GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE

Mariana Ryznychuk1, Olena Bolshova2, Dmytro Kvachenyuk2

  • 1BUKOVINIAN STATE MEDICAL UNIVERSITY, CHERNIVTSI, UKRAINE.

Wiadomosci Lekarskie (Warsaw, Poland : 1960)
|April 3, 2023
PubMed

Insights

Genetic variations in the vitamin D receptor (VDR) BsmI gene are linked to idiopathic short stature in children. Specific VDR genotypes increase the risk and are associated with vitamin D deficiency or insufficiency.

Area of Science:

  • Pediatric Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Idiopathic short stature (ISS) affects children's growth and development.
  • The vitamin D receptor (VDR) plays a crucial role in calcium homeostasis and bone metabolism.
  • Genetic variations, specifically VDR gene polymorphism, may influence the risk of ISS.

Purpose of the Study:

  • To investigate the clinical and genetic factors of children with ISS.
  • To analyze the association between VDR gene BsmI polymorphism and ISS.
  • To evaluate vitamin D levels in relation to VDR genotypes in these children.

Main Methods:

  • Study included 18 children diagnosed with ISS.
  • Collected data on patient demographics, anthropometry, bone age, and hormone levels (GH, IGF-1).
  • Analyzed VDR gene BsmI (rs1544410) polymorphism and blood vitamin D, calcium levels.

Main Results:

  • Carriers of the VDR BsmI A allele showed a significantly increased risk of ISS (OR=4.47).
  • The G/A genotype of VDR BsmI was associated with a substantially higher risk (OR=9.33).
  • Vitamin D deficiency was observed in G/G genotype, while insufficiency was noted in G/A and A/A genotypes.

Conclusions:

  • The VDR BsmI polymorphic locus (rs1544410) may be involved in the pathogenesis of ISS.
  • Genetic variations in VDR could contribute to the development of short stature in children.
  • Further research is warranted to elucidate the precise role of VDR gene polymorphisms in ISS.
Abstract

Keywords:
childrenidiopathic short staturepolymorphismVDR gene

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