Involvement of the vitamin D receptor gene in the development of idiopathic short stature

Background. The vitamin D receptor (VDR) gene is localized in the chromosome 12 (region 12q13). Its polymorphic variants BsmI and FokI are most promising clinical diagnostic terms. During normal ontogenesis, VDR affects total bone content body its resulting length determined by development of skeleton. aim study was to assess genotypic features children with idiopathic short stature. Materials methods. Determination polymorphism (rs1544410) performed polymerase chain reaction followed analysis restriction fragments when detected agarose gel electrophoresis 18 prepubertal Results. In group stature, proportion GG genotype four times higher than control group. G/A heterozygotes, risk stature significantly high (odds ratio (OR)=6.00; 95% confidence interval (CI) 2.06–17.48; p<0.01); G/G variant, it but not significant (OR=4.54; CI 0.70–29.31; p=0.11). Patients AA were three less group, indicating that homozygotes have a threefold reduction compared an empirical risk. frequency G allele patients (qG=0.444) almost healthy individuals (qG=0.152), carriage rs1544410 locus associated developing (OR=4.46; 3.60–5.51; p<0.001). Conclusions. genotypes, increases, presence A/A protective against Carriage despite perfect distribution genotypes.