Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East

ABSTRACT

In 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%.

KEYWORDS:

• Trehalose
• intolerance
• intestinal malabsorption
• disaccharide absorption

Acknowledgements

This article is an output of a research project implemented as part of the Basic Research Program at the National Research University Higher School of Economics (HSE University, Moscow). The study was partly conducted under the Anthropology of Eurasian Populations Project (ID: АААА-А19-119013090163-2) implemented by Anuchin Research Institute and Museum of Anthropology (Moscow State University) and was part of the State Assignment for the Research Centre of Medical Genetics. The study was also supported by Grant 21-14-00363 of the Russian Science Foundation.

We thank the Research Institute of Medical Genetics (Tomsk National Research Medical Centre of RAS, Tomsk), Vadim Stepanov and Vladimir Kharkov for the collection of DNA samples that expanded our Nenets dataset.

We also thank all donors who took part in the study. The collection of DNA samples was provided by the independent non-profit organization “Biobank of North Eurasia”.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by the Anthropology of Eurasian Populations Project [ID: АААА-А19-119013090163-2]; Russian Science Foundation [Grant 21-14-00363].