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.
|Tipologia:||Articolo su rivista|
|Citazione:||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.|
|Settore Scientifico Disciplinare:||Settore MED/03|
|Revisione (peer review):||Esperti anonimi|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3390/genes11070741|
|Stato di pubblicazione:||Pubblicato|
|Data di pubblicazione:||2020|
|Titolo:||Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications|
|Autori:||Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R|
|Appare nelle tipologie:||01 - Articolo su rivista|