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

International Journal of Circumpolar Health. 2023. Vol. 82. No. 1. Article 2183931.

Kozlov A., Vershubskaya G., Gorin I., Petrushenko V., Lavryashina M., Balanovska E.

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: intolerance, Trehalose, intestinal malabsorption, disaccharide absorption

Publication based on the results of: Social integration in temporal and spatial dimensions: values, strategies and practices (2023)