Populace structure of Kharkiv region on polymorphic APAI and TAQI variants of the VDR3 gene

Abstract

Aim. Vitamin D has a wide range of fundamental biological functions, and gene for vitamin D3 receptor is regarded as a predictor of a number of multifactorial diseases. However, the results of testing people in different regions of the world cited in literature concerning VDR3 gene are ambiguous, therefore the purpose of the study was to determine the allele and genotype frequencies of polymorphic ApaI and TaqI variants of VDR3 gene in populace of Kharkiv region. Methods. DNA samples from 61 healthy human were studied for 61888G> T (ApaI) and 61968T> C (TaqI) single nucleotide polymorphisms of VDR3 gene in residents of Kharkiv region. Results. The frequency of allele A was 0.62, while that of a – 0.38, T – 0,68, t – 0,32; results are comparable with the data on Western-Ukrainian and European populations. The frequencies of AA, Aa, aa genotypes made up 25 %, 75 %, 0 %, similar to those reported for Western-Ukrainian population, but statistically significantly differ from the frequency distribution in European countries. Excess of heterozygotes and absence of homozygotes by a allele may be indicative of selective significance of rs7975232 locus among the studied populace. Genotype frequencies of TT, Tt and tt accounted for 51 %, 34 % and 15 %, statistically significant differences from the distribution of genotypes in the Western Ukraine and Europe were not observed. Conclusions. Information about the frequencies of alleles and genotypes for the studied gene in the populace of Kharkiv region can be used to analyze their association with abnormalities, populace structure and population processes.

Key words: VDR3 gene, polymorphic variants 61888G>T (ApaI) and 61968T>C (TaqI), the frequency of genes and genotypes.