Background: Positioned as one of the central members in cellular antioxidant defense, glutathione reductase (GSR) determines the oxidative status of a cell. The level of its activity changes in certain physiological and pathological conditions. The rs1002149 polymorphic loci of the GSR gene, associated with the level of enzyme activity, is a potential molecular-genetic marker of complexly inherited traits (aging, multifactorial diseases). Since the glutathione system is responsible for the interaction with environmental factors, it is important to take into account the specifics of these system components actions, in particular GSR, in populations living in environments with different technogenic load. The aim of the study: The purpose of the study was the population-genetic analysis of the allelic state by the polymorphic marker rs1002149 (-386C>A) of the GSR gene in different ethnic groups living in contrasting environmental conditions – Russians, Bashkirs and Tatars (residents of the Republic of Bashkortostan) and Abkhazians. Materials and methods: The material was DNA samples from 1649 men and women aged 21 to 89, not related to each other, representatives of four ethnic groups – Russians (N=443), Bashkirs (N=453), Tatars (N=615), Abkhazians (N=138). Allelic variants of the GSR gene were identified by RT-PCR using TaqMan probes. For statistical analysis of the results of the study, computer programs SPSS (v. 13.0), GENEPOP, and Arlequin 3.0 were used. Ethnic heterogeneity was assessed using the Fisher test. Results: All four ethnic groups showed the absence of statistically significant differences in the genotypes distribution (P>0.05). The T allele in the ethnic group of Tatars is more frequent than in the ethnic group of the Bashkirs (22.68% vs. 18.65%, P=0.024). The genotype frequencies of Russians and Bashkirs (but not Tatars and Abkhazians) correspond to those of Europeans. All four ethnic groups are no different from South Americans. Significant heterogeneity is observed (except the Japanese, Bengalis and Nigerians) between the four studied ethnic groups and populations of East, South Asia and Africa. Conclusion: The minor T allele associated with a higher activity of the glutathione reductase is more frequent in the Tatars ethnic group than in Bashkirs.
Background: Positioned as one of the central members in cellular antioxidant defense, glutathione reductase (GSR) determines the oxidative status of a cell. The level of its activity changes in certain physiological and pathological conditions. The rs1002149 polymorphic loci of the GSR gene, associated with the level of enzyme activity, is a potential molecular-genetic marker of complexly inherited traits (aging, multifactorial diseases). Since the glutathione system is responsible for the interaction with environmental factors, it is important to take into account the specifics of these system components actions, in particular GSR, in populations living in environments with different technogenic load. The aim of the study: The purpose of the study was the population-genetic analysis of the allelic state by the polymorphic marker rs1002149 (-386C>A) of the GSR gene in different ethnic groups living in contrasting environmental conditions – Russians, Bashkirs and Tatars (residents of the Republic of Bashkortostan) and Abkhazians. Materials and methods: The material was DNA samples from 1649 men and women aged 21 to 89, not related to each other, representatives of four ethnic groups – Russians (N=443), Bashkirs (N=453), Tatars (N=615), Abkhazians (N=138). Allelic variants of the GSR gene were identified by RT-PCR using TaqMan probes. For statistical analysis of the results of the study, computer programs SPSS (v. 13.0), GENEPOP, and Arlequin 3.0 were used. Ethnic heterogeneity was assessed using the Fisher test. Results: All four ethnic groups showed the absence of statistically significant differences in the genotypes distribution (P>0.05). The T allele in the ethnic group of Tatars is more frequent than in the ethnic group of the Bashkirs (22.68% vs. 18.65%, P=0.024). The genotype frequencies of Russians and Bashkirs (but not Tatars and Abkhazians) correspond to those of Europeans. All four ethnic groups are no different from South Americans. Significant heterogeneity is observed (except the Japanese, Bengalis and Nigerians) between the four studied ethnic groups and populations of East, South Asia and Africa. Conclusion: The minor T allele associated with a higher activity of the glutathione reductase is more frequent in the Tatars ethnic group than in Bashkirs.
The study was carried out with the financial support of the Russian Foundation for Basic Research and the Abkhazian Academy of Sciences (Project No. 19-54-40007); the biological material (DNA) for research was taken from the collection of human biological materials of the Federal State Budgetary Institution of Science, The Institute of Biochemistry and Genetics, Ufa Scientific Center, The Russian Academy of Sciences, supported by the program of bioresource collections of the Federal Agency of Scientific Organizations of Russia (Agreement No. 007-030164/2); the work was done using the equipment of the Center for collective use «Biomika» and the unique scientific installation «KODINK» (The Federal State Budgetary Institution of Science “Institute of Biochemistry and Genetics”, Ufa Scientific Center, Russian Academy of Sciences).