The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia
The work concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced...
Published in: | Vavilov Journal of Genetics and Breeding |
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Language: | English Russian |
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Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2016
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Online Access: | https://doi.org/10.18699/VJ16.102 https://doaj.org/article/c8d0af50ce8b4648a9deca81739289ce |
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ftdoajarticles:oai:doaj.org/article:c8d0af50ce8b4648a9deca81739289ce 2024-02-11T10:04:26+01:00 The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia R. P. Tiis L. P. Osipova T. V. Churkina L. E. Tabikhanova D. V. Lichman E. N. Voronina M. L. Filipenko 2016-03-01T00:00:00Z https://doi.org/10.18699/VJ16.102 https://doaj.org/article/c8d0af50ce8b4648a9deca81739289ce EN RU eng rus Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders https://vavilov.elpub.ru/jour/article/view/518 https://doaj.org/toc/2500-3259 2500-3259 doi:10.18699/VJ16.102 https://doaj.org/article/c8d0af50ce8b4648a9deca81739289ce Вавиловский журнал генетики и селекции, Vol 20, Iss 1, Pp 16-22 (2016) tundra nenets nganasans russians xenobiotics real-time pcr cyp1a1 ile462val Genetics QH426-470 article 2016 ftdoajarticles https://doi.org/10.18699/VJ16.102 2024-01-14T01:50:23Z The work concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced carcinogenesis. It has been demonstrated that the 462Val allele may be a risk factor in some oncological and other multifactorial diseases. This study was performed on Tundra Nenets in Yamalo-Nenets Autonomous Okrug (N = 271), Nganasans in the Taimyr Peninsula (N = 186) and Russians in North Siberia (N = 267). The cohorts did not include descendants of mixed marriages. Genotyping was performed using Real-Time PCR with competitive TaqMan allele-specific probes. The frequency of the 462Val allele in the Tundra Nenets cohort was 23.8 % (95 % CI 20.4–27.6 %), which corresponds to the frequency range found in East Asian populations and is higher than the values typical of European populations. The 462Val allele frequency in the Russian cohort was 5.8 % (95 % CI 4.1–8.1 %), which corresponds to the frequency range of European populations. The 462Val allele frequency in the Nganasans cohort was 39.0 % (95 % CI 34.2–44.0 %), which is higher than the frequencies found in European, Asian and African populations. Frequencies of the 462Val variant close to that in Nganasans have been observed in Greenland Inuits, native Americans as a whole and the Southern Chinese. A high-frequency occurrence of the 462Val allele among Tundra Nenets and Nganasans may be indicative of a populationwide risk of diseases influenced by this genetic polymorphism, especially when traditional mainstays are gone or previously unknown ecotoxicants appear in the areas. Article in Journal/Newspaper Greenland inuits nenets Nenets Autonomous Okrug Nganasan* Taimyr Tundra Yamalo Nenets Yamalo-Nenets Autonomous Okrug Siberia Directory of Open Access Journals: DOAJ Articles Greenland Vavilov Journal of Genetics and Breeding 20 1 16 22 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English Russian |
topic |
tundra nenets nganasans russians xenobiotics real-time pcr cyp1a1 ile462val Genetics QH426-470 |
spellingShingle |
tundra nenets nganasans russians xenobiotics real-time pcr cyp1a1 ile462val Genetics QH426-470 R. P. Tiis L. P. Osipova T. V. Churkina L. E. Tabikhanova D. V. Lichman E. N. Voronina M. L. Filipenko The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
topic_facet |
tundra nenets nganasans russians xenobiotics real-time pcr cyp1a1 ile462val Genetics QH426-470 |
description |
The work concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced carcinogenesis. It has been demonstrated that the 462Val allele may be a risk factor in some oncological and other multifactorial diseases. This study was performed on Tundra Nenets in Yamalo-Nenets Autonomous Okrug (N = 271), Nganasans in the Taimyr Peninsula (N = 186) and Russians in North Siberia (N = 267). The cohorts did not include descendants of mixed marriages. Genotyping was performed using Real-Time PCR with competitive TaqMan allele-specific probes. The frequency of the 462Val allele in the Tundra Nenets cohort was 23.8 % (95 % CI 20.4–27.6 %), which corresponds to the frequency range found in East Asian populations and is higher than the values typical of European populations. The 462Val allele frequency in the Russian cohort was 5.8 % (95 % CI 4.1–8.1 %), which corresponds to the frequency range of European populations. The 462Val allele frequency in the Nganasans cohort was 39.0 % (95 % CI 34.2–44.0 %), which is higher than the frequencies found in European, Asian and African populations. Frequencies of the 462Val variant close to that in Nganasans have been observed in Greenland Inuits, native Americans as a whole and the Southern Chinese. A high-frequency occurrence of the 462Val allele among Tundra Nenets and Nganasans may be indicative of a populationwide risk of diseases influenced by this genetic polymorphism, especially when traditional mainstays are gone or previously unknown ecotoxicants appear in the areas. |
format |
Article in Journal/Newspaper |
author |
R. P. Tiis L. P. Osipova T. V. Churkina L. E. Tabikhanova D. V. Lichman E. N. Voronina M. L. Filipenko |
author_facet |
R. P. Tiis L. P. Osipova T. V. Churkina L. E. Tabikhanova D. V. Lichman E. N. Voronina M. L. Filipenko |
author_sort |
R. P. Tiis |
title |
The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
title_short |
The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
title_full |
The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
title_fullStr |
The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
title_full_unstemmed |
The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia |
title_sort |
ile462val polymorphism of the cytochrome p450 cyp1a1 gene among tundra nenets in yamalo-nenets autonomous okrug, nganasans in the taimyr peninsula and russians in siberia |
publisher |
Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
publishDate |
2016 |
url |
https://doi.org/10.18699/VJ16.102 https://doaj.org/article/c8d0af50ce8b4648a9deca81739289ce |
geographic |
Greenland |
geographic_facet |
Greenland |
genre |
Greenland inuits nenets Nenets Autonomous Okrug Nganasan* Taimyr Tundra Yamalo Nenets Yamalo-Nenets Autonomous Okrug Siberia |
genre_facet |
Greenland inuits nenets Nenets Autonomous Okrug Nganasan* Taimyr Tundra Yamalo Nenets Yamalo-Nenets Autonomous Okrug Siberia |
op_source |
Вавиловский журнал генетики и селекции, Vol 20, Iss 1, Pp 16-22 (2016) |
op_relation |
https://vavilov.elpub.ru/jour/article/view/518 https://doaj.org/toc/2500-3259 2500-3259 doi:10.18699/VJ16.102 https://doaj.org/article/c8d0af50ce8b4648a9deca81739289ce |
op_doi |
https://doi.org/10.18699/VJ16.102 |
container_title |
Vavilov Journal of Genetics and Breeding |
container_volume |
20 |
container_issue |
1 |
container_start_page |
16 |
op_container_end_page |
22 |
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1790601038847279104 |