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Своеобразие субэтнических групп ненцев по генетическим детерминантам метаболизма сахарозы, трегалозы и лактозы
Introduction. The diet of indigenous northerners is changing significantly on account of the rapid
growth in volume and variety of consummated food sugars. Concurrently, an arrow of northern aboriginal
groups are known to have an increased percentage of genetically determined disorders of disaccharide
metabolism. The study aimed to assess the polymorphism of genes and alleles that determine production
or activity of sucrase-isomaltase, trehalase and lactase enzymes in the groups of Nenets of Western Si-
beria and European Arctic.
Materials and methods. The genotyping of the samples of biomaterial from 236 unrelated individ-
uals formed the basis of the study. We analyzed the genotype and allele frequencies of the SI
(rs781470490), TREH (rs2276064) and LCT (rs4988235) genes in the groups of Forest, Gydan, Yamal
and European Tundra Nenets.
Results. There were not a single sample with the AG dinucleotide deletion at the rs781470490 locus of
the sucrase-isomaltase gene (SI gene) found. The TREH allele distributions appeared to be extremely close in
all the sub-ethnic groups of Nenets. The frequency of the associated with trehalase deficiency A*TREH allele
in the Nenets groups is at 0.25-0.26, which is significantly higher than in the non-arctic populations of Russia
(0.01-0.06). We have confirmed a high prevalence in the Nenets populations of the CC*LCT variant of the lac-
tase gene, which determines the limited production of the enzyme. The frequencies of the genotype vary in the
Nenets sub-groups from 0.90 in the Gydan and European Tundra Nenets to 0.70 in the Forest (the difference
from the European Tundra group is significant at the level of p = 0.06) and 0.65 in the Yamal Nenets (signifi-
cantly differ from both the Gydan and European Tundra groups, p < 0.05).
Conclusion. The difference in metabolism-related gene complexes can be found not only between
peoples, but even between sub-ethnic groups.