Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of the novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2). Structural and sequence variants inACE2gene may affect its expression in different tissues and determine a differential response to SARS-Cov-2 infection and the COVID-19-related phenotype. The present study investigated the genetic variability ofACE2in terms of single nucleotide variants (SNVs), copy number variations (CNVs), and expression quantitative loci (eQTLs) in a cohort of 268 individuals representative of the general Italian population. The analysis identified five SNVs (rs35803318, rs41303171, rs774469453, rs773676270, and rs2285666) in the Italian cohort. Of them, rs35803318 and rs2285666 displayed a significant different frequency distribution in the Italian population with respect to worldwide population. The eQTLs analysis located in and targetingACE2revealed a high distribution of eQTL variants in different brain tissues, suggesting a possible link betweenACE2genetic variability and the neurological complications in patients with COVID-19. Further research is needed to clarify the possible relationship betweenACE2expression and the susceptibility to neurological complications in patients with COVID-19. In fact, patients at higher risk of neurological involvement may need different monitoring and treatment strategies in order to prevent severe, permanent brain injury.

Strafella, C., Caputo, V., Termine, A., Barati, S., Gambardella, S., Borgiani, P., et al. (2020). Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications. GENES, 11(7), 1-10 [10.3390/genes11070741].

Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications

Caputo, Valerio;Gambardella, Stefano;Borgiani, Paola;Caltagirone, Carlo;Novelli, Giuseppe;Giardina, Emiliano;Cascella, Raffaella
2020

Abstract

Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of the novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2). Structural and sequence variants inACE2gene may affect its expression in different tissues and determine a differential response to SARS-Cov-2 infection and the COVID-19-related phenotype. The present study investigated the genetic variability ofACE2in terms of single nucleotide variants (SNVs), copy number variations (CNVs), and expression quantitative loci (eQTLs) in a cohort of 268 individuals representative of the general Italian population. The analysis identified five SNVs (rs35803318, rs41303171, rs774469453, rs773676270, and rs2285666) in the Italian cohort. Of them, rs35803318 and rs2285666 displayed a significant different frequency distribution in the Italian population with respect to worldwide population. The eQTLs analysis located in and targetingACE2revealed a high distribution of eQTL variants in different brain tissues, suggesting a possible link betweenACE2genetic variability and the neurological complications in patients with COVID-19. Further research is needed to clarify the possible relationship betweenACE2expression and the susceptibility to neurological complications in patients with COVID-19. In fact, patients at higher risk of neurological involvement may need different monitoring and treatment strategies in order to prevent severe, permanent brain injury.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03
English
ACE2 gene
COVID-19
SARS-Cov-2
bioinformatic analysis
eQTLs
neurological symptoms
Betacoronavirus
Brain
Computational Biology
Coronavirus Infections
European Continental Ancestry Group
Genotype
Humans
Italy
Nervous System Diseases
Pandemics
Peptidyl-Dipeptidase A
Pneumonia, Viral
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Genetic Variation
Strafella, C., Caputo, V., Termine, A., Barati, S., Gambardella, S., Borgiani, P., et al. (2020). Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications. GENES, 11(7), 1-10 [10.3390/genes11070741].
Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/257005
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