Laboratory of Molecular Biology, MK Ammosov North-Eastern Federal University, Yakutsk, Russia.
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia.
PLoS One. 2020 Nov 30;15(11):e0242219. doi: 10.1371/journal.pone.0242219. eCollection 2020.
The absence of comparable epidemiological data challenges the correct estimation of the prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known as the main type of communication of deaf people. We suggest that the distribution of SL can be interpreted as an indirect indicator of the prevalence of congenital HL. Since a significant part of congenital HL is due to genetic causes, an assessment of the distribution of SL users can reveal regions with an extensive accumulation of hereditary HL. For the first time, we analyzed the data on the distribution of SL users that became available for the total population of Russia by the 2010 census. Seventy-three out of 85 federal regions of Russia were ranked into three groups by the 25th and 75th percentiles of the proportion of SL users: 14 regions-"low proportion"; 48 regions-"average proportion"; and 11 regions-"high proportion". We consider that the observed uneven prevalence of SL users can reflect underlying hereditary forms of congenital HL accumulated in certain populations by specific genetic background and population structure. At least, the data from this study indicate that the highest proportions of SL users detected in some Siberian regions are consistent with the reported accumulation of specific hereditary HL forms in indigenous Yakut, Tuvinian and Altaian populations.
缺乏可比的流行病学数据,使得正确估计全球先天性听力损失 (HL) 的患病率变得具有挑战性。手语 (SL) 被认为是聋人的主要交流方式。我们认为,SL 的分布可以被解释为先天性 HL 患病率的间接指标。由于先天性 HL 的很大一部分是由遗传原因引起的,因此对 SL 用户分布的评估可以揭示遗传性 HL 广泛积累的地区。我们首次分析了 2010 年俄罗斯人口普查中可获得的俄罗斯总人口中 SL 用户分布的数据。根据 SL 用户比例的第 25 和 75 百分位数,俄罗斯 85 个联邦区中的 73 个被分为三组:14 个地区为“低比例”;48 个地区为“中等比例”;11 个地区为“高比例”。我们认为,观察到的 SL 用户分布不均可能反映了特定遗传背景和人口结构下某些人群中积累的潜在遗传性先天性 HL 形式。至少,这项研究的数据表明,在一些西伯利亚地区检测到的 SL 用户的最高比例与报告的在当地雅库特人、图瓦人和阿尔泰人中积累的特定遗传性 HL 形式是一致的。