Ryznychuk M. O.

POLYMORPHISM +1245G>T OF THE COL1A1 GENE IN CHILDREN WITH IDIOPATHIC SHORT STATURE

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About the author:

Ryznychuk M. O.

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PEDIATRICS

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Scientific article

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The aim of the study was to determine the +1245G>T gene polymorphism of COL1A1 in children with idiopathic short stature (ISS). A genetic study of 35 children with ISS who were treated at the V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine was conducted. The average age of the examined children was 10.68±3.30 years. The polymorphism of the COL1A1 gene, namely +1245G>T(rs1800012), was determined by standard methods. The G/G genotype was an unreliable risk factor for ISS (OR=1.56, (95%CI 0.66-3.48, p=0.28)). The dominant allele in the group of children studied is G (pG=0.814). The allele frequencies in ISS children (pG=0.814, qT=0.186) do not correlate as 1:1, which indicates a violation of the allele frequency in this sample, which may be due to the small study group. Patients with the T/G genotype have a non-significant risk of ISS (OR=1.17, (95%CI 0.51-2.72; p=0.71)). The G allele of the COL1A1 gene is significantly associated with the risk of ISS OR=1.95 (95%CI 0.99-2.82; p=0.05).

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Publication of the article:

«Bulletin of problems biology and medicine», 2024 Issue 3, 174, 367-374 pages, index UDC 616-053.2-007.21:575.113.2

DOI:

10.29254/2077-4214-2024-3-174-367-374