Распространенность генетических детерминант трегалазной энзимопатии в популяциях Сибири и Дальнего Востока России

Вопросы питания. 2023. Т. 92. № 2. С. 53–59.

Kozlov A., Вершубская Г. Г., Горин И. О., Пылев В. Ю., Балановская Е. В.

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: трегалаза, indigenous people of the North, trehalase, intestinal malabsorption, disaccharide absorption, нарушение всасывания в кишечнике, усвоение дисахаридов, genetical diversity, коренное население Севера, генетическая изменчивость

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