Posukh Olga L
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia, 630090.
Novosibirsk State University, Novosibirsk, Russia, 630090.
Hum Genet. 2022 Apr;141(3-4):649-663. doi: 10.1007/s00439-021-02327-7. Epub 2021 Aug 6.
Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the hereditary HL diversity and the evaluation of the factors determining the region-specific landscapes of genetic HL are important for local healthcare and medical genetic services. This review presents the summarized data from the published studies concerning the genetic etiology of HL in different populations of Russia. Multiethnic population of Russia (in total, about 146 million on 2021) includes over 180 different ethnic groups, the number of which varies from millions to just several thousand people. Among them, Russians are the largest group (about 111 million). The contribution of GJB2 gene in the HL etiology in patients of different ethnicities and ethnic-specific prevalence of the GJB2 pathogenic variants were studied in many local populations of Russia. However, the investigation of other "deafness" genes is still limited to a relatively small number of studies on patients with HL of unsolved etiology.
遗传性听力损失（HL）的患病率以及基因座/等位基因异质性在不同人群中存在显著差异。研究遗传性HL的多样性以及评估决定遗传性HL区域特异性格局的因素，对于当地医疗保健和医学遗传服务而言至关重要。本综述呈现了已发表研究中有关俄罗斯不同人群HL遗传病因的汇总数据。俄罗斯的多民族人口（截至2021年总计约1.46亿）包括180多个不同民族，其数量从数百万到仅几千人不等。其中，俄罗斯人是最大的群体（约1.11亿）。在俄罗斯的许多当地人群中，研究了GJB2基因在不同种族患者HL病因中的作用以及GJB2致病变体的种族特异性患病率。然而，对其他“耳聋”基因的研究仍局限于相对较少的针对病因未明的HL患者的研究。
