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

Autor: Andrey Kozlov, Galina Vershubskaya, Igor Gorin, Valeria Petrushenko, Maria Lavryashina, Elena Balanovska
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: International Journal of Circumpolar Health, Vol 82, Iss 1 (2023)
Druh dokumentu: article
ISSN: 22423982
2242-3982
DOI: 10.1080/22423982.2023.2183931
Popis: 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%.
Databáze: Directory of Open Access Journals
Externí odkaz: