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Studying polymorphic variants of the NAT2 gene (NAT2*5 and NAT2*7) in Nenets populations of Northern Siberia
BMC Genetics ( IF 2.9 ) Pub Date : 2020-10-22 , DOI: 10.1186/s12863-020-00909-4
Roza Pavlovna Tiis , Ludmila Pavlovna Osipova , Daria Veniaminovna Lichman , Elena Nikolaevna Voronina , Maxim Leonidovich Filipenko

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. 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. 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.

中文翻译:

研究北西伯利亚Nenets人群中NAT2基因的多态变异(NAT2 * 5NAT2 * 7

N-乙酰基转移酶2在多种异生素的代谢中起着至关重要的作用,这些异生素包括人类环境中的许多药物,致癌物和其他化学物质。本文首次介绍了两个重要的NAT2基因“慢”变体(NAT2 * 5,rs1801280和NAT2 * 7,rs1799931)的频率,这些频率显着影响异种生物素乙酰化的速率,代表了西伯利亚北部的森林和苔原Nenets。这项研究的目的是识别这些变异的频率,并将其与其他种族人群的频率进行比较。NAT2 * 5(T341C)基因分型显示,苔原和森林涅涅茨人的频率分别为28.0%和38.6%。Tundra和Forest Nenets的NAT2 * 7(G857A)变体的频率分别为9.8%和8.2%。Nenets的多态变体频率介于欧洲人和亚洲人之间。Nenets基因库中欧洲和亚洲成分的存在可能解释了这些结果。这项研究的结果扩展了世界人群中NAT2多态性的知识。这些数据也可能有助于评估Nenets在与NAT2基因多态性相关的多因素疾病的遗传易感性,总的来说,有助于西伯利亚土著人个性化医学的发展。这项研究的结果扩展了世界人群中NAT2多态性的知识。这些数据也可能有助于评估Nenets在与NAT2基因多态性相关的多因素疾病的遗传易感性,总的来说,有助于西伯利亚土著人个性化医学的发展。这项研究的结果扩展了世界人群中NAT2多态性的知识。这些数据也可能有助于评估Nenets在与NAT2基因多态性相关的多因素疾病的遗传易感性,总的来说,有助于西伯利亚土著人个性化医学的发展。
更新日期:2020-10-26
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