Prevalence of trehalase enzymopathy genetic determinants in Siberian and Russian Far East populations
AbstractTo date, it has been established that the patient’s genotype plays a significant role in the formation of trehalase enzymopathy: the level of enzyme activity decreases when the G→A allele replacement occurs in the rs2276064 locus of the TREH gene. To assess the prevalence of trehalase deficiency, extensive population-based studies are needed. Clinical observations show that the reduced activity of bowel trehalase is more common in the Arctic than in European populations.
The aim of this research was to analyze the frequency of the alleles and variants of trehalase gene (rs2276064 TREH) in the indigenous small-numbered populations of Siberia and the Russian Far East.
Material and methods. Using the Infinium iSelect HD Custom BeadChip biochip on the iScan platform and real-time polymerase chain reaction on a Bio-Rad CFX96 Touch amplifier, genotyping of 1068 DNA samples was carried out, of which 711 represent 10 ethnic groups of the indigenous people of the North of Siberia and the Far East of the Russian Federation. Two reference groups of Russians (n=311) and Yakuts (n=46) represented the “Caucasoid” and “Mongoloid” poles of the Russian population.
Results. The reduced trehalase activity that the heterozygous GA*TREH genotype determines can manifest itself in 19.8–53.7% of indigenous northerners. An additional 1.0 to 19.7% of the population are carriers of the AA*TREH genotype, which is associated with apparent trehalose malabsorption. The carriers may experience nausea, abdominal pain, and other dyspeptic symptoms after eating trehalose containing foods. The total risk of trehalase enzymopathy among the indigenous northerners in the Asian part of the Russian Federation is very high and can reach 60–70%. There is a gradient in the A*TREH allele frequencies in the small-numbered indigenous northern groups of Russia from the west (Khanty, Mansi, Nenets) to the east (peoples of the Far East).
Conclusion. The results are consistent with previously reported data on the higher carriage of the A*TREH mutant allele in Mongoloid populations compared to Caucasoid groups. It was hypothesized that, while the initial A*TREH allele prevalence in Mongoloid groups was moderately high, an adaptation to a low-sugar protein-lipid “high-latitude” diet led to a weaker control over the maintenance of the carriage of the ancestral G allele. Trehalose malabsorption requires special attention of specialists in the field of nutrition, gastroenterology, public health, and medical genetics working in high-latitude regions.
Keywords:indigenous populations of the North; genetic diversity; trehalose; intolerance; intestinal malabsorption; disaccharide absorption; trehalase
Funding. The study was carried out within the framework of the research project Anthropology of Eurasian Populations (АААА-А19-119013090163-2) of the Research Institute and Museum of Anthropology, Moscow State University (medical and anthropological analysis), and the State task for the Research Center of Medical Genetics (geno-geographical analysis). The bioinformatic determination of allele frequencies in most population groups was supported by the Russian Science Foundation (grant 21-14-00363).
Conflict of interest. The authors declare no conflicts of interest.
Contribution. The concept and design of the study – Kozlov A.I., Balanovska E.V.; collection, analysis of the material – all authors, writing the text – Kozlov A.I., Vershubskaya G.G., Balanovska E.V.; editing, approval of the final version of the article, responsibility for the integrity of all parts of the article – all authors.
Acknowledgements. We thank all sample donors who participated in this study. The DNA collection was provided by “Biobank of Northern Eurasia”.
For citation: Kozlov A.I., Vershubskaya G.G., Gorin I.O., Pylev V.Yu., Balanovska E.V. Prevalence of trehalase enzymopathy genetic determinants in Siberian and Russian Far East populations. Voprosy pitaniia [Problems of Nutrition]. 2023; 92 (2): 53–9. DOI: https://doi.org/10.33029/0042-8833-2023-92-2-53-59 (in Russian)
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