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Abstract
Polymorphisms of genes involved in the growth process are an important cause of growth hormone deficiency (isolated form) and short stature. Isolated growth hormone deficiency can be caused by genetic defects in about 10% of patients, in 34% of cases it is a consequence of familial pathology, and 4% are sporadic cases. Aim. The study of vitamin D receptor (VDR) gene polymorphism Taql in children with growth hormone deficiency. Material and methods. The examination of 36 children with growth hormone deficiency of prepubertal age was conducted. Determination of vitamin D receptor TaqI (rs731236) gene polymorphism was performed using polymerase chain reaction method, followed by an analysis of the length of the restriction fragments when they are detected by agarose gel electrophoresis. Results. The largest number of childrenwith growth hormone deficiency had a heterozygous genotype for the Taql polymorphism of the VDR gene (rs731236) (55.56%), homozygotes for T/T alleles accounted for 33.33%, and homozygotes for C/C alleles – 11.11%. The greatest growth retardation was found in children carrying the homozygous C/C genotype, followed by T/T homozygotes, and children heterozygous for T/C alleles had the lowest growth retardation among children with growth hormone deficiency. The level of IGF-1 in examined children was reduced: its lowest level was found in the heterozygous T/C genotype of the Taql (rs731236) polymorphism. Conclusions. A significant number of children with growth hormone deficiency (55.56%) have heterozygous T/C genotype of Taql (rs731236) polymorphism against the background of significantly lower levels of IGF-1 and stimulated
growth hormone in comparison with these parameters in children carrying homozygous C/C genotype. Hypovitaminosis D was detected in all patients with growth hormone deficiency: vitamin D deficiency – in children with homozygous T/T genotype (42.08±15.70 nmol/L), and vitamin D insufficiency – in carriers of heterozygous T/C genotype (56.24±18.60 nmol/L) and homozygous C/C genotype (68.25±16.87 nmol/L).
References
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