BSMI polymorphism (283G>A) VDR gene and phosphorus-calcium exchange parameters


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Abstract

Introduction. Vitamin D is one of the main regulators of phosphorus-calcium metabolism. Vitamin D availability is determined by both external and genetic factors. The genetic contribution to the 25 (OH) D level is estimated to range from 23 to 77%. According to the literature, one of the candidate genes responsible for the efficiency of the endocrine system of vitamin D in the body is the gene encoding the vitamin D receptor (VDR), through which vitamin D realizes his functions. One of the most significant polymorphisms of the VDR gene is BSMI (283G>A). The aim of the study is to evaluate the effect of the BSMI VDR polymorphism on the level of 25 (OH) D and the parameters of calcium-phosphorus metabolism. Methods. A cross-sectional clinical and laboratory study included 124 persons (31 men (27,6%), 93 women (72,4%)). The sample age was of 18,44+0,25 years. During the study, the participants analyzed the level of 25 (OH) D, party hormone, total calcium, phosphorus, alkaline phosphatase, and the BSMI polymorphism of the VDR gene was determined. Results. In the total sample, the prevalence of genotypes of the VDR gene was: AA - 7%, GA - 41%, GG - 52%. The frequency of an occurrence of the A allele was 27,4%, and that of the G allele - 72,6%. The analysis did not reveal statistically significant differences in indices of phosphorus-calcium metabolism in carriers of different genotypes. There were no statistically significant differences between the distribution of genotypes in the presence and absence of vitamin D deficiency, as well as the influence of the genotype on the level ofparathyroid hormone. Conclusion. The results indicate the need to continue research on the role of genetic factors in the regulation of calcium-phosphorus metabolism, taking into account environmental influences.

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About the authors

S. I Malyavskaya

Northern State Medical University

G. N Kostrova

Northern State Medical University

Email: kostrovagn@yandex.ru

A. V Lebedev

Northern State Medical University

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