Sentsova T.B.1, Vorozhko I.V.1, Chernyak O.O.1, Revyakina V.A.1, Timofeeva A.G.1,
Mukhortyh V.A.1, Donnikov A.E.2
1 Scientific Research Institute of Nutrition, Moscow, Russia
2 Scientific Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov,
Key words: allergic disease, gene, receptor of vitamin D (VDR), allele polymorphism, of 25-OH-vitamin D
Background. To investigate the frequency of vitamin receptor gene D (VDR) polymorphism in children with
Materials and methods. We enrolled 130 children (66 boys and 64 girls) with allergic diseases aged from 1,5 to
16 years old. All children underwent clinical and allergological examination. 93 children (71,5%) had isolated
allergy, mainly food allergy and atopic dermatitis, 37 children (28,4%) had bronchial asthma, associated with
allergic rhinitis and urticaria. The control group included 41 healthy children aged from 1 to 10 years old. For
DNA allotment the kit «Proba Rapid Genetics» of «DNA Technology» (Russia) was used. Analysis of polymorphic
marker FokI (rs 2228570), BsmI (rs 1544410) and TaqI (rs 731236) of VDR gene was performed by PCR in real
time using the detecting thermocycler DT -96, and kits for DNA diagnostics company «DNA technology» (Russia).
Research metabolite 25- OH (25- hydroxyvitamin D2 and D3) of vitamin D was carried out by ELISA commercial
kit «DIAsource» (Belgium).
Results. Significantly increased frequency of allele A in the VDR gene BsmI site (OR=1,81, p=0,04) and homozygous
A/A, heterozygous G/A genotype (OR=2,03, p=0,05 and OR=1,8, p=0,05, respectively) was found, that enables to
consider it as a prognostic marker associated with the development of allergic disease risk. Statistically significant
reduction in the concentration of 25 -OH- vitamin D (p=0,02) in children with the heterozygous variant A/G and
homozygous G/G in Fok1 VDR gene was found.
Conclusion. There were significant differences in frequencies of genotypes and alleles of DVR gene in children
with allergic diseases in the population. These results create the preconditions for the development of new
methods of prevention of vitamin D deficiency, taking into account the individual characteristics of its metabolism.