About: Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2

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About: Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2 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	Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2
Creator	Fujikura, K Uesaka, K
Source	Medline; PMC
abstract	AIMS: The recent emergence of novel, pathogenic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) poses a global health emergency. The coronaviral entry requires the spike (S)-protein for attachment to the host cell surface, and employs human angiotensin-converting enzyme 2 (hACE2) for entry and transmembrane protease serine 2 (TMPRSS2) for S-protein priming. Although coronaviruses undergo evolution by mutating themselves, it is also essential to know the host genetic factors. Here, we describe the single nucleotide variations (SNVs) in human ACE2 and TMPRSS2. METHODS: The genetic variants derived from five population-sequencing projects were classified by variant type, allele frequency (AF), ethnic group and estimated pathogenicity. The SNVs in SARS-CoV-2/hACE2 contact residues were investigated. The genetic variability was normalised using non-linear regression and the total number of SNVs was estimated by the derived formulas. RESULTS: We detected 349 and 551 SNVs in ACE2 and TMPRSS2, respectively, in a total of 156 513 individuals. The vast majority (>97%) of the SNVs were very rare (AF <0.1%) and population-specific, and were computationally estimated to be more frequently deleterious than the SNVs with high AF. These SNVs were distributed throughout the coding regions; some ACE2 variants were located in the SARS-CoV-2/hACE2 contact residues, with a hemizygous state occurring in males. Using regression analysis, the total numbers of genetic variations in ACE2 and TMPRSS2 were 1.1×10(3) and 1.5×10(3), respectively, for a population of one million people. CONCLUSION: The majority of SNVs in ACE2 and TMPRSS2 are rare, population-specific and deleterious, and a multitude of very rare SNVs may explain different susceptibility to SARS-CoV-2.
has issue date	2020-07-19(xsd:dateTime)
bibo:doi	10.1136/jclinpath-2020-206867
bibo:pmid	32690544
has license	no-cc
sha1sum (hex)	036959c6dc765ebfd2aae083b1f645d047d3a644
schema:url	https://doi.org/10.1136/jclinpath-2020-206867
resource representing a document's title	Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2
has PubMed Central identifier	PMC7385749
has PubMed identifier	32690544
schema:publication	J Clin Pathol
resource representing a document's body	covid:036959c6dc765ebfd2aae083b1f645d047d3a644#body_text
is schema:about of	named entity 'receptor' named entity 'severe acute respiratory syndrome coronavirus' named entity 'ACE2' named entity 'severe acute respiratory syndrome coronavirus' named entity 'data set' named entity 'genetic variation' named entity 'genetic diversity' named entity 'ACE2' named entity 'SNVs' named entity 'SARS-CoV-2' named entity 'SARS-CoV-2' named entity 'TMPRSS2' named entity 'SNVs' named entity 'protein' named entity 'genetic variations' named entity 'NCBI' named entity 'sourceforge' named entity 'SNVs' named entity 'genetic variations' named entity 'genetic polymorphisms' named entity 'missense' named entity 'SARS-CoV-2' named entity 'CCR5' named entity 'genetic diversity' named entity 'protein' named entity 'NHLBI' named entity 'ACE2' named entity 'coronavirus' named entity 'ToMMo' named entity 'ACE2' named entity 'chemokine receptor' named entity 'ACE2' named entity 'scatter plot' named entity 'sex chromosome' named entity 'SNV' named entity 'genetic variants' named entity 'Cary, North Carolina' named entity 'SARS-CoV' named entity 'exponential decay' named entity 'CCR5-Δ32' named entity 'gastrointestinal symptoms' named entity 'ACE2' named entity 'exome' named entity 'protein' named entity 'dbSNP' named entity 'African-American' named entity 'SNVs' named entity 'genetic variations' named entity 'CCR5' named entity 'TMPRSS2' named entity 'cellular receptor' named entity 'nausea' named entity 'genetic diversity' named entity 'exponential decay' named entity 'allele' named entity 'missense' named entity 'antibody' named entity 'virus' named entity 'COVID' named entity 'genetic variations' named entity '46,XX' named entity 'exposure to the virus' named entity 'SARS-CoV-2' named entity 'human populations' named entity '46,XY' named entity 'angiotensin-converting enzyme 2' named entity 'sequence data' named entity 'coronavirus' named entity 'genetic polymorphism' named entity 'SNVs' named entity 'protein' named entity 'SARS-CoV-2' named entity 'X-chromosome' named entity 'ACE2' named entity 'SNVs' named entity 'gene' named entity 'acute respiratory distress syndrome' named entity 'serine protease' named entity 'SARS-CoV' named entity 'protein'

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