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Abstract
Abstract. The +1245 G/T polymorphism of the Collagen type I alpha 1 chain (COL1A1) gene, which is involved in collagen synthesis and bone density formation, is an important cause of growth disorders in children. Growth hormone (GH) deficiency is a very important component of growth retardation in childhood and the formation of osteoporosis in adulthood. The aim of our study was to investigate certain parameters in children with growth hormone deficiency in depending on the +1245 G/T polymorphism of the COL1A1 gene. Material and methods. We studied 28 children of prepubertal age with growth hormone deficiency. Determination of the +1245 G/T (rs1800012) polymorphism in the COL1A1 gene was performed by polymerase chain reaction, followed by analysis of the length of restriction fragments when detected them by agarose gel electrophoresis. Results. The greatest growth retardation was observed in the homozygous T/T genotype; children heterozygous for the T/G alleles had the less growth retardation. Basal GH levels were low in all studied groups regardless of genotype, but they were the lowest in carriers of the homozygous T/T genotype. GH levels after stimulation with clonidine were lowest in children of T/T homozygotes. The level of insulin-like growth factor-1 (IGF-1) was reduced in subjects with the presence of the heterozygous T/G polymorphism, and normal in homozygous children. Conclusions. A significant number of children with GH deficiency (53.57%) have a homozygous G/G genotype of the +1245 G/T polymorphism (rs1800012) in the COL1A1 gene, homozygotes for T/T alleles accounted for 7.14% and heterozygotes for T/G alleles were 39.29%. Hypovitaminosis D was detected in all patients with GH deficiency: deficiency – in children with heterozygous T/G genotype (45.09±8.43 nmol/L), and vitamin D insufficiency – in carriers of homozygous genotypes, namely T/T genotype (57.15±7.57 nmol/L) and homozygous G/G genotype (56.70±5.66 nmol/L).
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