Kozlov A I, Balanovsky O P, Vershubskaya G G, Gorin I O, Balanovska E V, Lavryashina M B
D. Anuchin Institute and Museum of Anthropology, Lomonosov Moscow State University, 125009, Moscow, Russian Federation.
National University "High School of Economy", 101000, Moscow, Russian Federation.
Vopr Pitan. 2021;90(5):96-103. doi: 10.33029/0042-8833-2021-90-5-96-103. Epub 2021 Sep 1.
Due to the low specificity and sensitivity of non-invasive clinical tests trehalose malabsorption remained out of sight of gastroenterologists. Therefore, the specialists regard this disorder as rare. Trehalose became widely used in the food industry as a harmless sucrose substitute, sweetener and stabilizer. After the discovery of the trehalase gene (rs2276064 TREH), it was found that the ATREH allele is the determinant of the disaccharide absorption disorders, and the allele's carriership may be high in some groups. There is not enough information on the ATREH frequency in the population of Russia. of the study was to analyze the allele and genotype frequencies of the trehalase gene (rs2276064 TREH) in the main population groups of the Russian Federation and neighboring countries. . DNA samples from 1146 unrelated subjects belonging to 21 population groups of Russia, Azerbaijan, Tajikistan and Mongolia were genotyped by the two following methods: 1) using the Infinium iSelect HD Custom Genotyping BeadChip (Illumina, USA) on the iScan platform; 2) by the real time polymer-chain reaction (PCR) method on the Bio-Rad CFX96 Touch amplifier. . It has been found that on the territory of the Russian Federation the frequency of the ATREH allele increases from the west to the east. The frequencies are lowest in the groups of Russians and Finns of the Northwest (0.01-0.03), up to 0.07 in the populations of Central Russia and the Volga region, and even higher toward the Southern Urals (Bashkirs 0.15), in the Transurals and Southern Siberia (0.19 in the Altai people, 0.30 in the Tuvinians and Mongols). Up to 1% of the population of the European part of the Russian Federation have the AATREH genotype (i.e. trehalose intolerance in phenotype), and up to 15% (GA*TREH genotype) have a reduced ability to absorb the disaccharide. In the Asian part of the country (Siberia, Altai, Baikal) the genotypes carriers constitute up to 12 and 46% respectively. . Trehalose malabsorbtion is an underappreciated problem of particular practical importance for regions with high concentrations of indigenous population (Yakutia-Sakha, Buryatia, Tyva, etc.). It would be feasible to consider food labelling of trehalose.
由于非侵入性临床检测的特异性和敏感性较低，海藻糖吸收不良一直未被胃肠病学家所关注。因此，专家们认为这种疾病很罕见。海藻糖作为一种无害的蔗糖替代品、甜味剂和稳定剂，在食品工业中得到了广泛应用。在发现海藻糖酶基因（rs2276064 TREH）后，人们发现ATREH等位基因是二糖吸收障碍的决定因素，并且在某些群体中该等位基因的携带率可能较高。关于俄罗斯人群中ATREH频率的信息不足。本研究的目的是分析俄罗斯联邦主要人群组以及邻国中海藻糖酶基因（rs2276064 TREH）的等位基因和基因型频率。对来自俄罗斯、阿塞拜疆、塔吉克斯坦和蒙古21个人群组的1146名无亲缘关系个体的DNA样本采用以下两种方法进行基因分型：1）在iScan平台上使用Infinium iSelect HD定制基因分型芯片（美国Illumina公司）；2）在Bio-Rad CFX96 Touch扩增仪上通过实时聚合酶链反应（PCR）方法。研究发现，在俄罗斯联邦境内，ATREH等位基因的频率从西向东逐渐增加。西北地区的俄罗斯人和芬兰人群体中频率最低（0.01 - 0.03），俄罗斯中部和伏尔加地区人群中频率高达0.07，往南乌拉尔地区（巴什基尔人0.15）、跨乌拉尔地区和南西伯利亚地区（阿尔泰人0.19，图瓦人和蒙古人0.30）频率更高。俄罗斯联邦欧洲部分高达1%的人口具有AATREH基因型（即表型为海藻糖不耐受），高达15%（GA*TREH基因型）的人口二糖吸收能力下降。在该国亚洲部分（西伯利亚、阿尔泰、贝加尔地区），基因型携带者分别占比高达12%和46%。海藻糖吸收不良是一个未得到充分重视的问题，对于原住民人口高度集中的地区（雅库特 - 萨哈、布里亚特、图瓦等）具有特别重要的实际意义。考虑对海藻糖进行食品标签标注是可行的。
