Genetics of sucrose metabolism disorders in different population groups
AbstractThe study of the genetic determinants of the disaccharidase activity opens up new prospects for improving diagnostics and choosing medical tactics in gastroenterology.
The aim of the study was to systematize the data on the role of the sucrase-isomaltase gene (SI) in regulating sucrose metabolism and the contribution of SI mutations to the prevalence of sucrose malabsorption disorders (sucrase-isomaltase deficiency, SID) and certain forms of enterological pathology in different population groups.
Material and methods. A review of the peer-reviewed scientific literature, mainly in the PubMed database (https://pubmed.ncbi.nlm.nih.gov) and eLibrary (https://elibrary.ru), was conducted using key words: carbohydrate malabsorption, sucrase, sucrase-isomaltase deficiency, sucrase-isomaltase SI gene. The search depth was not specified, but particular attention was paid to recent publications. The gnomAD database (https://www.ncbi.nlm.nih.gov/snp/rs781470490) was also used.
Results. According to the review results, 37 out of 150 known SI gene mutations have been confirmed to contribute to reduced sucrase activity or restricted sucrase production. The prevalence of point mutations in the SI gene is estimated at 0.0006%, but carrier rates of the SI delAG deletion (rs781470490), manifested as homozygosity in SID, are very high (5–21%) in indigenous populations of Arctic regions in East Asia and America. Medical-genetic research methods improve the accuracy of differential diagnosis of primary and secondary SID and other forms of disaccharide and polysaccharide malabsorption. The formation of databases on the prevalence of genetic determinants of sucrase-isomaltase insufficiency is a promising way to refine the epidemiology of SID. There is an increased (0.2–2.3%) risk of clinical manifestations of SID in homozygous carriers of the SI delAG mutation in the Chukotka, Kamchatka, and Northern Priochotye populations. Verification of reports on a less pronounced tendency to lipid metabolism disorders in SI delAG carriers compared with the control group is recommended.
Conclusion. Manifestations of mutant SI variants in the phenotype are associated with the presence of accompanying carbohydrate malabsorption variants and specific gut microbiota. The SI 15Phe variant (rs9290264) may contribute to the development of irritable bowel syndrome.
Keywords:malabsorption; carbohydrates; disaccharides; sucrase; sucrase-isomaltase deficiency; SI gene; irritable bowel syndrome; genetic variation
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, Lomonosov Moscow State University, the framework of the Basic Research Program at HSE University, and the State tasks for the Research Center of Medical Genetics (Moscow) and the Institute of Biological Problems of the North (Magadan).
Conflict of interest. The authors declare no conflicts of interest.
Contribution. The concept of the study – Kozlov A.I.; collection, analysis of the material, writing and editing the text – all authors; approval of the final version of the article – Kozlov A.I.; responsibility for the integrity of all parts of the article – all authors.
For citation: Kozlov A.I., Malyarchuk B.A. Genetics of sucrose metabolism disorders in different population groups. Voprosy pitaniia [Problems of Nutrition]. 2024; 93 (2): 52–62. DOI: https://doi.org/10.33029/0042-8833-2024-93-2-52-62 (in Russian)
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