TY - JOUR

T1 - Studying polymorphic variants of the NAT2 gene (NAT2*5 and NAT2*7) in Nenets populations of Northern Siberia

AU - Tiis, Roza Pavlovna

AU - Osipova, Ludmila Pavlovna

AU - Lichman, Daria Veniaminovna

AU - Voronina, Elena Nikolaevna

AU - Filipenko, Maxim Leonidovich

N1 - Publisher Copyright: © 2020, The Author(s). Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/10/22

Y1 - 2020/10/22

N2 - 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.

AB - 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.

KW - Forest and Tundra Nenets

KW - NAT2 gene

KW - NAT25, rs1801280

KW - NAT27, rs1799931

KW - Northern Siberia

KW - Xenobiotics

KW - BLADDER-CANCER

KW - GSTM1

KW - ACETYLATION

KW - GENOTYPE

KW - SUSCEPTIBILITY

KW - NAT25

KW - RISK

KW - NAT27

KW - DRUG-METABOLIZING-ENZYMES

KW - LUNG-CANCER

KW - ARYLAMINE N-ACETYLTRANSFERASES

KW - N-ACETYLTRANSFERASE-2

KW - rs1799931

KW - rs1801280

UR - http://www.scopus.com/inward/record.url?scp=85093827691&partnerID=8YFLogxK

U2 - 10.1186/s12863-020-00909-4

DO - 10.1186/s12863-020-00909-4

M3 - Article

C2 - 33092525

AN - SCOPUS:85093827691

VL - 21

SP - 115

JO - BMC Genetics

JF - BMC Genetics

SN - 1471-2156

IS - Suppl 1

M1 - 115

ER -