Andrey Kozlov, Galina Vershubskaya, Igor Gorin, Valeria Petrushenko, Maria Lavryashina, Elena Balanovska
{"title":"遗传决定海藻酶缺乏症在西伯利亚和俄罗斯远东地区的流行。","authors":"Andrey Kozlov, Galina Vershubskaya, Igor Gorin, Valeria Petrushenko, Maria Lavryashina, Elena Balanovska","doi":"10.1080/22423982.2023.2183931","DOIUrl":null,"url":null,"abstract":"<p><p>In order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of t<i>TREH</i> gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the <i>AA*TREH</i> genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%.</p>","PeriodicalId":13930,"journal":{"name":"International Journal of Circumpolar Health","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/1b/ZICH_82_2183931.PMC10013436.pdf","citationCount":"0","resultStr":"{\"title\":\"Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East.\",\"authors\":\"Andrey Kozlov, Galina Vershubskaya, Igor Gorin, Valeria Petrushenko, Maria Lavryashina, Elena Balanovska\",\"doi\":\"10.1080/22423982.2023.2183931\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of t<i>TREH</i> gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the <i>AA*TREH</i> genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%.</p>\",\"PeriodicalId\":13930,\"journal\":{\"name\":\"International Journal of Circumpolar Health\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/1b/ZICH_82_2183931.PMC10013436.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Circumpolar Health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/22423982.2023.2183931\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Circumpolar Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/22423982.2023.2183931","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
Prevalence of genetically determined trehalase deficiency in populations of Siberia and Russian Far East.
In order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of tTREH gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the AA*TREH genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%.
期刊介绍:
The International Journal of Circumpolar Health is published by Taylor & Francis on behalf of the Circumpolar Health Research Network [CircHNet]. The journal follows the tradition initiated by its predecessor, Arctic Medical Research. The journal specializes in circumpolar health. It provides a forum for many disciplines, including the biomedical sciences, social sciences, and humanities as they relate to human health in high latitude environments. The journal has a particular interest in the health of indigenous peoples. It is a vehicle for dissemination and exchange of knowledge among researchers, policy makers, practitioners, and those they serve.
International Journal of Circumpolar Health welcomes Original Research Articles, Review Articles, Short Communications, Book Reviews, Dissertation Summaries, History and Biography, Clinical Case Reports, Public Health Practice, Conference and Workshop Reports, and Letters to the Editor.