Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East
ABSTRACTIn order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of treh...
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2023
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ftdoajarticles:oai:doaj.org/article:671cee5610034c0a886413a27ff8067a 2024-01-21T10:04:08+01:00 Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East Andrey Kozlov Galina Vershubskaya Igor Gorin Valeria Petrushenko Maria Lavryashina Elena Balanovska 2023-12-01T00:00:00Z https://doi.org/10.1080/22423982.2023.2183931 https://doaj.org/article/671cee5610034c0a886413a27ff8067a EN eng Taylor & Francis Group https://www.tandfonline.com/doi/10.1080/22423982.2023.2183931 https://doaj.org/toc/2242-3982 doi:10.1080/22423982.2023.2183931 2242-3982 https://doaj.org/article/671cee5610034c0a886413a27ff8067a International Journal of Circumpolar Health, Vol 82, Iss 1 (2023) Trehalose intolerance intestinal malabsorption disaccharide absorption Arctic medicine. Tropical medicine RC955-962 article 2023 ftdoajarticles https://doi.org/10.1080/22423982.2023.2183931 2023-12-24T01:42:47Z ABSTRACTIn order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of tTREH gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the AA*TREH genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%. Article in Journal/Newspaper Arctic Chukchi Circumpolar Health International Journal of Circumpolar Health Koryak Siberia Directory of Open Access Journals: DOAJ Articles Arctic International Journal of Circumpolar Health 82 1 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Trehalose intolerance intestinal malabsorption disaccharide absorption Arctic medicine. Tropical medicine RC955-962 |
spellingShingle |
Trehalose intolerance intestinal malabsorption disaccharide absorption Arctic medicine. Tropical medicine RC955-962 Andrey Kozlov Galina Vershubskaya Igor Gorin Valeria Petrushenko Maria Lavryashina Elena Balanovska Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
topic_facet |
Trehalose intolerance intestinal malabsorption disaccharide absorption Arctic medicine. Tropical medicine RC955-962 |
description |
ABSTRACTIn order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of tTREH gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the AA*TREH genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%. |
format |
Article in Journal/Newspaper |
author |
Andrey Kozlov Galina Vershubskaya Igor Gorin Valeria Petrushenko Maria Lavryashina Elena Balanovska |
author_facet |
Andrey Kozlov Galina Vershubskaya Igor Gorin Valeria Petrushenko Maria Lavryashina Elena Balanovska |
author_sort |
Andrey Kozlov |
title |
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
title_short |
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
title_full |
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
title_fullStr |
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
title_full_unstemmed |
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East |
title_sort |
prevalence of genetically determined trehalase deficiency in populations of siberia and russian far east |
publisher |
Taylor & Francis Group |
publishDate |
2023 |
url |
https://doi.org/10.1080/22423982.2023.2183931 https://doaj.org/article/671cee5610034c0a886413a27ff8067a |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic Chukchi Circumpolar Health International Journal of Circumpolar Health Koryak Siberia |
genre_facet |
Arctic Chukchi Circumpolar Health International Journal of Circumpolar Health Koryak Siberia |
op_source |
International Journal of Circumpolar Health, Vol 82, Iss 1 (2023) |
op_relation |
https://www.tandfonline.com/doi/10.1080/22423982.2023.2183931 https://doaj.org/toc/2242-3982 doi:10.1080/22423982.2023.2183931 2242-3982 https://doaj.org/article/671cee5610034c0a886413a27ff8067a |
op_doi |
https://doi.org/10.1080/22423982.2023.2183931 |
container_title |
International Journal of Circumpolar Health |
container_volume |
82 |
container_issue |
1 |
_version_ |
1788694550680698880 |