• Analysis of the single nucleotide BSMI VDR gene polymorphism and vitamin D status interaction in children with rickets
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Analysis of the single nucleotide BSMI VDR gene polymorphism and vitamin D status interaction in children with rickets

SOVREMENNAYA PEDIATRIYA. 2015.1(65):40-42; doi 10.15574/SP.2015.65.40


Analysis of the single nucleotide BSMI VDR gene polymorphism and vitamin D status interaction in children with rickets


Tocarchyuk N. I., Pugach M. N.

N.I. Pirogov Vinnitsa National Medical University, Ukraine


Objective. To analyze the distribution of variant alleles of single nucleotide of the BSMI VDR gene polymorphism in children with vitamin D-deficient rickets.


Patients and methods. A total of 118 children in the age from 3 to 12 months who had clinical signs of vitamin D-deficient rickets were under observation. A clinical and anamnestic examination of children, determination of serum concentration of 25 (OH) D and genetic study of the BSMI VDR gene polymorphism is conducted.


Results. Determination of the distribution of genotypes of polymorphic marker BsmI as follows: the first group – genotype bb carriers (39 (33%) of children), the second group — genotype Bb carriers (57 (48.3%)), the third group — genotype BB carriers (22 children (18.7%)).Vitamin D deficiency is significantly more frequently diagnosed in people with genotype bb (p<0.05).


Conclusions. The association of BsmI VDR gene polymorphism with vitamin D-deficient rickets in children was analyzed at first. The relation of vitamin D deficiency with the genotype of the BsmI polymorphic marker is found.


Key words: rickets, infants, VDR gene polymorphism, hydroxyvitamin D.


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