COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

被引：80

作者：

Latini, Andrea ^{[1
]}

Agolini, Emanuele ^{[2
]}

Novelli, Antonio ^{[2
]}

Borgiani, Paola ^{[1
]}

Giannini, Rosalinda ^{[3
]}

Gravina, Paolo ^{[3
]}

Smarrazzo, Andrea ^{[4
]}

Dauri, Mario ^{[5
]}

Andreoni, Massimo ^{[6
,7
]}

Rogliani, Paola ^{[8
]}

Bernardini, Sergio ^{[9
]}

Helmer-Citterich, Manuela ^{[10
]}

Biancolella, Michela ^{[3
,10
]}

Novelli, Giuseppe ^{[1
,3
,11
,12
]}

机构：

[1] Tor Vergata Univ Hosp, Dept Biomed & Prevent, I-00133 Rome, Italy

[2] Bambino Gesu Pediat Hosp, Lab Med Genet, IRCCS, I-00165 Rome, Italy

[3] Tor Vergata Univ Hosp, Med Genet Lab, I-00133 Rome, Italy

[4] Bambino Gesu Pediat Hosp, IRCCS, UOC Pediat, I-00165 Rome, Italy

[5] Tor Vergata Univ Hosp, Dept Clin Sci & Translat Med, I-00133 Rome, Italy

[6] Tor Vergata Univ Hosp, Dept Syst Med, I-00133 Rome, Italy

[7] Tor Vergata Univ Hosp, Infect Dis Clin, I-00133 Rome, Italy

[8] Tor Vergata Univ Hosp, Dept Expt Med, Unit Resp Med, I-00133 Rome, Italy

[9] Tor Vergata Univ Hosp, Dept Expt Med & Biochem Sci, I-00133 Rome, Italy

[10] Tor Vergata Univ Hosp, Dept Biol, I-00133 Rome, Italy

[11] IRCCS Neuromed, I-86077 Pozzilli, Italy

[12] Univ Nevada, Sch Med, Dept Pharmacol, Reno, NV 89557 USA

来源：

GENES | 2020年 / 11卷 / 09期

关键词：

COVID-19; SARS-CoV-2; genetic variants; host genetic variability; TMPRSS2; PCSK3;

D O I：

10.3390/genes11091010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The recent global COVID-19 public health emergency is caused by SARS-CoV-2 infections and can manifest extremely variable clinical symptoms. Host human genetic variability could influence susceptibility and response to infection. It is known that ACE2 acts as a receptor for this pathogen, but the viral entry into the target cell also depends on other proteins. The aim of this study was to investigate the variability of genes coding for these proteins involved in the SARS-CoV-2 entry into the cells. We analyzed 131 COVID-19 patients by exome sequencing and examined the genetic variants of TMPRSS2, PCSK3, DPP4, and BSG genes. In total we identified seventeen variants. In PCSK3 gene, we observed a missense variant (c.893G>A) statistically more frequent compared to the EUR GnomAD reference population and a missense mutation (c.1906A>G) not found in the GnomAD database. In TMPRSS2 gene, we observed a significant difference in the frequency of c.331G>A, c.23G>T, and c.589G>A variant alleles in COVID-19 patients, compared to the corresponding allelic frequency in GnomAD. Genetic variants in these genes could influence the entry of the SARS-CoV-2. These data also support the hypothesis that host genetic variability may contribute to the variability in infection susceptibility and severity.

引用

页码：1 / 8

页数：8

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