About: ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population
Creator	Alessandra, Renieri Alessandro, Bruselles Alfonso, Trezza Alfredo, Brusco Andrea, Ciolfi Annalaura, Torella Annarita, Giliberti Bracci, Viale Caterina, Marconi Elisa, Benetti Floriana, Valentino Francesca, Mari Francesco, Musacchia Gabriella, Doddato Giovanni, Birolo Giuseppe, Matullo Le Scotte, Policlinico Marco, Seri Marco, Tartaglia Margherita, Baldassarri Maria, Anna Mirella, Bruttini Ottavia, Spiga Renieri, Alessandra Rosanna, Asselta Rossella, Tita Simone, Furini Tommaso, Pippucci Vincenzo, Nigro
Source	MedRxiv
abstract	In December 2019, an initial cluster of unexpected interstitial bilateral pneumonia emerged in Wuhan, Hubei province. A human-to-human transmission was immediately assumed and a previously unrecognized entity, termed coronavirus disease 19 (COVID-19) due to a novel coronavirus (2019-nCov) was suddenly described. The infection has rapidly spread out all over the world and Italy has been the first European Country experiencing the endemic wave with unexpected clinical severity in comparison with Asian countries. It has recently been shown that 2019-nCov utilizes host receptors namely angiotensin converting enzyme 2 (ACE2) as host receptor and host proteases for cell surface binding and internalization. Thus, a predisposing genetic background can give reason for interindividual disease susceptibility and/or severity. Taking advantage of the Network of Italian Genomes (NIG), here we mined around 7000 exomes from 5 different Centers looking for ACE2 variants. A number of variants with a potential impact on protein stability were identified. Among these, three missense changes, p.Asn720Asp, p.Lys26Arg, p.Gly211Arg (MAF 0.002 to 0.015), which have never been reported in the Eastern Asia population, were predicted to interfere with protein cleavage and stabilization. Rare truncating variants likely interfering with the internalization process and one missense variant, p.Trp69Cys, predicted to interfere with 2019-nCov spike protein binding were also observed. These findings suggest that a predisposing genetic background may contribute to the observed inter-individual clinical variability associated with COVID-19. They allow an evidence-based risk assessment opening up the way to personalized preventive measures and therapeutic options.
has issue date	2020-04-06(xsd:dateTime)
bibo:doi	10.1101/2020.04.03.20047977
has license	medrxiv
sha1sum (hex)	82666752849e336b6aa956f147c69e4ac9f6b11b
schema:url	https://doi.org/10.1101/2020.04.03.20047977
resource representing a document's title	ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population
resource representing a document's body	covid:82666752849e336b6aa956f147c69e4ac9f6b11b#body_text
is schema:about of	named entity 'population' named entity 'endemic' named entity 'disease' named entity 'ACE2' named entity 'Asian' named entity 'infection' named entity 'Wuhan' named entity 'coronavirus disease' named entity 'interindividual variability' named entity 'allele frequency' named entity 'preprint' named entity 'doi' named entity 'preprint' named entity 'bilateral pneumonia' named entity 'proteases' named entity 'virion' named entity 'NVIDIA TESLA' named entity '2019-nCov' named entity 'genomic DNA' named entity 'exomes' named entity 'medRxiv' named entity 'Protease' named entity 'infection' named entity 'latin' named entity 'medRxiv' named entity 'preprint' named entity 'preprint' named entity 'preprint' named entity 'TIP3P' named entity 'glycoprotein' named entity 'rare variants' named entity 'ACE2' named entity 'protein' named entity 'SARS-CoV' named entity 'medRxiv' named entity 'WHO' named entity 'allele' named entity 'preprint' named entity 'Italian' named entity 'X-inactivation' named entity 'SIFT' named entity 'peer-reviewed' named entity 'respiratory distress' named entity 'doi' named entity 'medRxiv' named entity 'March 2020' named entity '2019-nCov' named entity 'alveolar cells' named entity 'spike protein' named entity 'leukocytes' named entity 'medRxiv' named entity 'CUDA' named entity 'NPT' named entity 'Bologna' named entity 'World Health Organization' named entity 'hydrophobic core' named entity 'membrane fusion'

Faceted Search & Find service v1.13.91 as of Mar 24 2020

Alternative Linked Data Documents: Sponger | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of Jul 10 2020, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (94 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software