Kozlov A I, Malyarchuk B A
D. Anuchin Institute and Museum of Anthropology, Lomonosov Moscow State University, 125009, Moscow, Russian Federation.
International Laboratory for Social Integration Studies, National Research University - Higher School of Economics, 101000, Moscow, Russian Federation.
Vopr Pitan. 2024;93(2):52-62. doi: 10.33029/0042-8833-2024-93-2-52-62. Epub 2024 Mar 25.
The study of the genetic determinants of the disaccharidase activity opens up new prospects for improving diagnostics and choosing medical tactics in gastroenterology. 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. . 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. . 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. Medicalgenetic 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. . 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.
对双糖酶活性的遗传决定因素的研究为改善胃肠病学的诊断和选择医疗策略开辟了新前景。本研究的目的是系统整理关于蔗糖酶-异麦芽糖酶基因（SI）在调节蔗糖代谢中的作用的数据，以及SI突变对不同人群中蔗糖吸收不良疾病（蔗糖酶-异麦芽糖酶缺乏症，SID）和某些形式的肠道病理学患病率的影响。使用关键词“碳水化合物吸收不良”“蔗糖酶”“蔗糖酶-异麦芽糖酶缺乏症”“蔗糖酶-异麦芽糖酶SI基因”，对主要在PubMed数据库（https://pubmed.ncbi.nlm.nih.gov）和电子图书馆（https://elibrary.ru）中的同行评审科学文献进行了综述。未指定搜索深度，但特别关注近期出版物。还使用了gnomAD数据库（https://www.ncbi.nlm.nih.gov/snp/rs781470490）。根据综述结果，已证实150个已知的SI基因突变中有37个会导致蔗糖酶活性降低或蔗糖酶产生受限。SI基因点突变的患病率估计为0.0006%，但SI delAG缺失（rs781470490）的携带率在东亚和美洲北极地区的原住民中非常高（5%-21%），在SID中表现为纯合子。医学遗传学研究方法提高了原发性和继发性SID以及其他形式的双糖和多糖吸收不良鉴别诊断的准确性。建立蔗糖酶-异麦芽糖酶不足的遗传决定因素患病率数据库是完善SID流行病学的一种有前景的方法。在楚科奇、堪察加和北滨海边疆区人群中，SI delAG突变纯合携带者出现SID临床表现的风险增加（0.2%-2.3%）。建议验证关于SI delAG携带者与对照组相比脂质代谢紊乱倾向不太明显的报道。突变型SI变体在表型中的表现与伴随的碳水化合物吸收不良变体和特定肠道微生物群的存在有关。SI 15Phe变体（rs9290264）可能有助于肠易激综合征的发展。
