Genetic polymorphisms of xenobiotic detoxification system in the populations of Russians and Buryats

Background. Gene polymorphism of the xenobiotic detoxification system is associated with drug resistance and human diseases such as cancer, Parkinson’s disease, Alzheimer’s disease, atherosclerosis, liver cirrhosis, aging, cataract formation, infertility, insomnia. Frequency of the polymorphic variants of GSTs genes varies in different world populations.

The purpose of this study is to characterize the frequency distribution of genotypes of the GSTM1, GSTT1 genes, as well as genotypes and alleles of the Ile105Val, Ala114Val polymorphic variants of the GSTP1 gene in the populations of the Russians and the Buryats living in Eastern Siberia and to establish the ethnic differences in the frequency characteristics of the studied genes.

Methods. The sample included 461 people, including 264 Russians and 197 Buryats. Molecular genetic study of deletion polymorphism of GSTT1 and GSTM1 genes was carried out using the polymerase chain reaction (PCR) method with electrophoretic detection. The Ile105Val (rs1695) and Ala114Val (rs1138272) polymorphism of the GSTP1 gene was studied using the real-time polymerase chain reaction (Real-Time PCR) method.

Results. Comparative analysis of the frequency distribution of genotypes of the GSTM1 and GSTT1 genes did not reveal statistically significant differences between the compared population samples. The frequency of the deletion genotype of the GSTM1 gene in the populations of Russians and Buryats was 44.7 and 48.7%, of the GSTT1 gene 22.4 and 30.5%, respectively. It was shown that there are statistically significant differences in the frequency distribution of genotypes of polymorphic variants Ile105Val (p=0.023) and Ala114Val (p=0.007) of the GSTP1 gene between the compared population samples. The frequency of the rare alleles in the populations of Russians and Buryats was as follows: allele G (Ile 105Val) - 23.67 and 20.56%, allele T (Ala 114 Val) - 10.23 and 4.57% (p=0.002), respectively.

Conclusions. The compared population samples of the Russians and the Buryats do not differ in the frequency of deletion genotypes of the GSTM1, GSTT1 genes. At the same time, significant differences in the frequency distribution of genotypes of the Ile105Val, Ala114Val polymorphic variants of the GSTP1 gene are observed in the compared groups. Comparison of the data obtained in this study with similar data in other world populations showed that the frequency characteristics of GSTs genes in the studied populations of the Russians and the Buryats are within the frequency of these genes in other European and Asian populations.

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