Shikov Anton E, Barbitoff Yury A, Glotov Andrey S, Danilova Maria M, Tonyan Ziravard N, Nasykhova Yulia A, Mikhailova Anastasia A, Bespalova Olesya N, Kalinin Roman S, Mirzorustamova Azizahon M, Kogan Igor Yu, Baranov Vladislav S, Chernov Alexander N, Pavlovich Dragana M, Azarenko Sergey V, Fedyakov Mikhail A, Tsay Victoria V, Eismont Yuri A, Romanova Olga V, Hobotnikov Dmitry N, Vologzhanin Dmitry A, Mosenko Sergei V, Ponomareva Tatiana A, Talts Yana A, Anisenkova Anna U, Lisovets Dmitrii G, Sarana Andrey M, Urazov Stanislav P, Scherbak Sergey G, Glotov Oleg S
Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia.
Saint Petersburg State University, Saint Petersburg, Russia.
Front Genet. 2020 Sep 29;11:551220. doi: 10.3389/fgene.2020.551220. eCollection 2020.
In March 2020, the World Health Organization declared that an infectious respiratory disease caused by a new severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2, causing coronavirus disease 2019 (COVID-19)] became a pandemic. In our study, we have analyzed a large publicly available dataset, the Genome Aggregation Database (gnomAD), as well as a cohort of 37 Russian patients with COVID-19 to assess the influence of different classes of genetic variants in the () gene on the susceptibility to COVID-19 and the severity of disease outcome.
We demonstrate that the European populations slightly differ in alternative allele frequencies at the 2,754 variant sites in identified in the gnomAD database. We find that the Southern European population has a lower frequency of missense variants and slightly higher frequency of regulatory variants. However, we found no statistical support for the significance of these differences. We also show that the Russian population is similar to other European populations when comparing the frequencies of the variants. Evaluation of the effect of various classes of variants on COVID-19 outcome in a cohort of Russian patients showed that common missense and regulatory variants do not explain the differences in disease severity. At the same time, we find several rare variants (including rs146598386, rs73195521, rs755766792, and others) that are likely to affect the outcome of COVID-19. Our results demonstrate that the spectrum of genetic variants in may partially explain the differences in severity of the COVID-19 outcome.
2020年3月，世界卫生组织宣布一种由新型严重急性呼吸综合征冠状病毒2（SARS-CoV-2，引发2019冠状病毒病（COVID-19））引起的传染性呼吸道疾病成为大流行病。在我们的研究中，我们分析了一个大型公开可用数据集——基因组聚合数据库（gnomAD），以及一组37名俄罗斯COVID-19患者，以评估（）基因中不同类别的遗传变异对COVID-19易感性和疾病结局严重程度的影响。
我们证明，在gnomAD数据库中确定的（）基因的2754个变异位点上，欧洲人群的替代等位基因频率略有不同。我们发现，南欧人群的错义变异频率较低，调控变异频率略高。然而，我们没有发现这些差异具有统计学意义的证据。在比较（）基因变异频率时，我们还表明俄罗斯人群与其他欧洲人群相似。对一组俄罗斯患者中各类（）基因变异对COVID-19结局的影响进行评估表明，常见的错义变异和调控变异并不能解释疾病严重程度的差异。同时，我们发现了几个可能影响COVID-19结局的罕见（）基因变异（包括rs146598386、rs73195521、rs755766792等）。我们的结果表明，（）基因中的遗传变异谱可能部分解释了COVID-19结局严重程度的差异。
