Studying polymorphic variants of the NAT2 gene ( NAT2*5 and NAT2*7 ) in Nenets populations of Northern Siberia
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RESEARCH
Open Access
Studying polymorphic variants of the NAT2 gene (NAT2*5 and NAT2*7) in Nenets populations of Northern Siberia Roza Pavlovna Tiis1,2* , Ludmila Pavlovna Osipova1,2, Daria Veniaminovna Lichman1,2, Elena Nikolaevna Voronina2,3 and Maxim Leonidovich Filipenko2,3 From 11th International Young Scientists School “Systems Biology and Bioinformatics” – SBB-2019 Novosibirsk, Russia. 24-28 June 2019
Abstract Background: N-acetyltransferase 2 plays a crucial role in the metabolism of a wide range of xenobiotics, including many drugs, carcinogens, and other chemicals in the human environment. The article presents for the first time data on the frequency of two important “slow” variants of NAT2 gene (NAT2*5, rs1801280 and NAT2*7, rs1799931), which significantly affect the rate of xenobiotics acetylation, among representatives of indigenous populations of Forest and Tundra Nenets in Northern Siberia. The aim of this study was to identify the frequencies of these variants and compare them with frequencies in other ethnic populations. Results: NAT2*5 (T341C) genotyping revealed frequencies of 28,0% and 38,6% for Tundra and Forest Nenets, respectively. The frequencies of NAT2*7 (G857A) variant were 9,8% and 8,2% for Tundra and Forest Nenets, respectively. Polymorphic variants frequencies for Nenets are intermediate between those in populations of Europeans and Asians. These results can probably be explained by the presence of both European and Asian components in Nenets gene pools. Conclusions: The results of this study expand the knowledge of NAT2 polymorphism in world populations. These data may also help assess the genetic predisposition of Nenets to multifactorial diseases associated with polymorphism in the NAT2 gene and, in general, contribute to the development of personalized medicine in reference to native people of Siberia. Keywords: Xenobiotics, NAT2 gene, NAT2*5, rs1801280, NAT2*7, rs1799931, Forest and Tundra Nenets, Northern Siberia
Background A person’s life expectancy and quality of life are determined by many factors, including heredity, lifestyle, physical activity, nutrition, stress, and the exposure to foreign substances (xenobiotics). These include exotoxins, mutagens and carcinogens in tobacco smoke, food, air, medicines, industrial and agricultural products [1–3]. * Correspondence: [email protected] 1 Institute of Cytology and Genetics SB RAS, 630090 Novosibirsk, Russia 2 Novosibirsk State University, Russian Federation, 630090 Novosibirsk, Russia Full list of author information is available at the end of the article
Foreign substances entering the body are metabolized by the enzymes of the xenobiotic biotransformation system (XBS). XBS genes are highly polymorphic. Numerous studies have shown that the combination of adverse environmental factors with the inheritance of unfavorable polymorphic variants of genes, which include XBS genes, determines individual sensitivity to various toxins. Such sensitivity may contribute to the development of socially significant diseases in both adults
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