Standard

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome. / 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.

In: Frontiers in Genetics, Vol. 11, 551220, 29.09.2020.

Research output: Contribution to journal › Article › peer-review

Harvard

Shikov, AE, Barbitoff, YA, Glotov, AS, Danilova, MM, Tonyan, ZN, Nasykhova, YA, Mikhailova, AA, Bespalova, ON, Kalinin, RS, Mirzorustamova, AM, Kogan, IY, Baranov, VS, Chernov, AN, Pavlovich, DM, Azarenko, SV, Fedyakov, MA, Tsay, VV, Eismont, YA, Romanova, OV, Hobotnikov, DN, Vologzhanin, DA, Mosenko, SV, Ponomareva, TA, Talts, YA, Anisenkova, AU, Lisovets, DG, Sarana, AM, Urazov, SP, Scherbak, SG & Glotov, OS 2020, 'Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome', Frontiers in Genetics, vol. 11, 551220. https://doi.org/10.3389/fgene.2020.551220

APA

Shikov, A. E., Barbitoff, Y. A., Glotov, A. S., Danilova, M. M., Tonyan, Z. N., Nasykhova, Y. A., Mikhailova, A. A., Bespalova, O. N., Kalinin, R. S., Mirzorustamova, A. M., Kogan, I. Y., Baranov, V. S., Chernov, A. N., Pavlovich, D. M., Azarenko, S. V., Fedyakov, M. A., Tsay, V. V., Eismont, Y. A., Romanova, O. V., ... Glotov, O. S. (2020). Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome. Frontiers in Genetics, 11, [551220]. https://doi.org/10.3389/fgene.2020.551220

Vancouver

Shikov AE, Barbitoff YA, Glotov AS, Danilova MM, Tonyan ZN, Nasykhova YA et al. Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome. Frontiers in Genetics. 2020 Sep 29;11. 551220. https://doi.org/10.3389/fgene.2020.551220

Author

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. / Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome. In: Frontiers in Genetics. 2020 ; Vol. 11.

BibTeX

@article{1f4b6754fe3c4c30993ce27a96594195,
title = "Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome",
abstract = "Objectives: 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 angiotensin-converting enzyme-2 (ACE2) gene on the susceptibility to COVID-19 and the severity of disease outcome. Results: We demonstrate that the European populations slightly differ in alternative allele frequencies at the 2,754 variant sites in ACE2 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 ACE2 variants. Evaluation of the effect of various classes of ACE2 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 ACE2 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 ACE2 may partially explain the differences in severity of the COVID-19 outcome.",
keywords = "ACE2, allele frequency, COVID-19, eQTL, gnomAD, mutations, Russia, whole-exome sequencing, SARS-COV-2, AMINO-ACID SUBSTITUTIONS, RECEPTOR, GENOME, POLYMORPHISMS, SERVER, CORONAVIRUS",
author = "Shikov, {Anton E.} and Barbitoff, {Yury A.} and Glotov, {Andrey S.} and Danilova, {Maria M.} and Tonyan, {Ziravard N.} and Nasykhova, {Yulia A.} and Mikhailova, {Anastasia A.} and Bespalova, {Olesya N.} and Kalinin, {Roman S.} and Mirzorustamova, {Azizahon M.} and Kogan, {Igor Yu} and Baranov, {Vladislav S.} and Chernov, {Alexander N.} and Pavlovich, {Dragana M.} and Azarenko, {Sergey V.} and Fedyakov, {Mikhail A.} and Tsay, {Victoria V.} and Eismont, {Yuri A.} and Romanova, {Olga V.} and Hobotnikov, {Dmitry N.} and Vologzhanin, {Dmitry A.} and Mosenko, {Sergei V.} and Ponomareva, {Tatiana A.} and Talts, {Yana A.} and Anisenkova, {Anna U.} and Lisovets, {Dmitrii G.} and Sarana, {Andrey M.} and Urazov, {Stanislav P.} and Scherbak, {Sergey G.} and Glotov, {Oleg S.}",
note = "Funding Information: Funding. ACE2 sequencing methodology development and analysis was supported by the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, project no. AAAA-A19- 119021290033-1. Exomes data were done using the equipment of Biobank of the Research Park of SPBU. Publisher Copyright: {\textcopyright} Copyright {\textcopyright} 2020 Shikov, Barbitoff, Glotov, Danilova, Tonyan, Nasykhova, Mikhailova, Bespalova, Kalinin, Mirzorustamova, Kogan, Baranov, Chernov, Pavlovich, Azarenko, Fedyakov, Tsay, Eismont, Romanova, Hobotnikov, Vologzhanin, Mosenko, Ponomareva, Talts, Anisenkova, Lisovets, Sarana, Urazov, Scherbak and Glotov. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = sep,
day = "29",
doi = "10.3389/fgene.2020.551220",
language = "English",
volume = "11",
journal = "Frontiers in Genetics",
issn = "1664-8021",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

AU - Shikov, Anton E.

AU - Barbitoff, Yury A.

AU - Glotov, Andrey S.

AU - Danilova, Maria M.

AU - Tonyan, Ziravard N.

AU - Nasykhova, Yulia A.

AU - Mikhailova, Anastasia A.

AU - Bespalova, Olesya N.

AU - Kalinin, Roman S.

AU - Mirzorustamova, Azizahon M.

AU - Kogan, Igor Yu

AU - Baranov, Vladislav S.

AU - Chernov, Alexander N.

AU - Pavlovich, Dragana M.

AU - Azarenko, Sergey V.

AU - Fedyakov, Mikhail A.

AU - Tsay, Victoria V.

AU - Eismont, Yuri A.

AU - Romanova, Olga V.

AU - Hobotnikov, Dmitry N.

AU - Vologzhanin, Dmitry A.

AU - Mosenko, Sergei V.

AU - Ponomareva, Tatiana A.

AU - Talts, Yana A.

AU - Anisenkova, Anna U.

AU - Lisovets, Dmitrii G.

AU - Sarana, Andrey M.

AU - Urazov, Stanislav P.

AU - Scherbak, Sergey G.

AU - Glotov, Oleg S.

N1 - Funding Information: Funding. ACE2 sequencing methodology development and analysis was supported by the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, project no. AAAA-A19- 119021290033-1. Exomes data were done using the equipment of Biobank of the Research Park of SPBU. Publisher Copyright: © Copyright © 2020 Shikov, Barbitoff, Glotov, Danilova, Tonyan, Nasykhova, Mikhailova, Bespalova, Kalinin, Mirzorustamova, Kogan, Baranov, Chernov, Pavlovich, Azarenko, Fedyakov, Tsay, Eismont, Romanova, Hobotnikov, Vologzhanin, Mosenko, Ponomareva, Talts, Anisenkova, Lisovets, Sarana, Urazov, Scherbak and Glotov. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/9/29

Y1 - 2020/9/29

N2 - Objectives: 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 angiotensin-converting enzyme-2 (ACE2) gene on the susceptibility to COVID-19 and the severity of disease outcome. Results: We demonstrate that the European populations slightly differ in alternative allele frequencies at the 2,754 variant sites in ACE2 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 ACE2 variants. Evaluation of the effect of various classes of ACE2 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 ACE2 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 ACE2 may partially explain the differences in severity of the COVID-19 outcome.

AB - Objectives: 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 angiotensin-converting enzyme-2 (ACE2) gene on the susceptibility to COVID-19 and the severity of disease outcome. Results: We demonstrate that the European populations slightly differ in alternative allele frequencies at the 2,754 variant sites in ACE2 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 ACE2 variants. Evaluation of the effect of various classes of ACE2 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 ACE2 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 ACE2 may partially explain the differences in severity of the COVID-19 outcome.

KW - ACE2

KW - allele frequency

KW - COVID-19

KW - eQTL

KW - gnomAD

KW - mutations

KW - Russia

KW - whole-exome sequencing

KW - SARS-COV-2

KW - AMINO-ACID SUBSTITUTIONS

KW - RECEPTOR

KW - GENOME

KW - POLYMORPHISMS

KW - SERVER

KW - CORONAVIRUS

UR - http://www.scopus.com/inward/record.url?scp=85092472216&partnerID=8YFLogxK

U2 - 10.3389/fgene.2020.551220

DO - 10.3389/fgene.2020.551220

M3 - Article

AN - SCOPUS:85092472216

VL - 11

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 551220

ER -

ID: 70416511