Abstract：
The 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. 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. 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.
摘要：
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的前景。该研究的目的是将蔗糖酶-异麦芽糖酶基因（SI）在调节蔗糖代谢中的作用以及SI突变对蔗糖吸收不良疾病（蔗糖酶-异麦芽糖酶缺乏症，SID）和不同人群中某些形式的肠道病理学。材料和方法。对同行评审的科学文献的回顾，主要在PubMed数据库(https://pubmed.ncbi.nlm.nih.gov）和eLibrary（https://elibrary。ru),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。未指定搜索深度，但特别关注最近的出版物。gnomAD数据库(https://www.ncbi.nlm.nih.gov/snp/rs781470490)也被使用。结果。根据审查结果,已证实150个已知SI基因突变中有37个导致蔗糖酶活性降低或蔗糖酶产量受限。SI基因中的点突变的患病率估计为0.0006%,但SIdelAG删除的载波速率(rs781470490)，表现为SID中的纯合性，在东亚和美洲北极地区的土著人口中，这一比例很高（5-21%）。医学遗传学研究方法提高了原发性和继发性SID以及其他形式的二糖和多糖吸收不良的鉴别诊断的准确性。关于蔗糖酶-异麦芽糖酶不足的遗传决定因素的普遍性的数据库的形成是改进SID流行病学的有希望的方法。在Chukotka中SIdelAG突变的纯合携带者中，SID临床表现的风险增加（0.2-2.3％），堪察加半岛,和北部的Priochotye人口。建议验证与对照组相比，SIdelAG携带者脂质代谢紊乱趋势较不明显的报告。结论。表型中突变SI变体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。SI15Phe变体（rs9290264）可能有助于肠易激综合征的发展。
