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10.1038/s41431-020-0691-z http://scihub22266oqcxt.onion/10.1038/s41431-020-0691-z 32681121!7366459!32681121     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2020 ; 28 (11): 1602-1614 Nephropedia Template TP {{tp|p=32681121|t=2020. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population |pdf=|usr=}}{{32681121}} gab.com Text ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=32681121 #FOAvip In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to a novel coronavirus (SARS-CoV-2) was 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 been shown that SARS-CoV-2 utilizes 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 whole-exome sequencing data of 6930 Italian control individuals from five different centers looking for ACE2 variants. A number of variants with a potential impact on protein stability were identified. Among these, three more common missense changes, p.(Asn720Asp), p.(Lys26Arg), and p.(Gly211Arg) were predicted to interfere with protein structure and stabilization. Rare variants likely interfering with the internalization process, namely p.(Leu351Val) and p.(Pro389His), predicted to interfere with SARS-CoV-2 spike protein binding, were also observed. Comparison of ACE2 WES data between a cohort of 131 patients and 258 controls allowed identifying a statistically significant (P value < 0.029) higher allelic variability in controls compared with patients. These findings suggest that a predisposing genetic background may contribute to the observed interindividual clinical variability associated with COVID-19, allowing an evidence-based risk assessment leading to personalized preventive measures and therapeutic options. Twit Text FOAVip ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=32681121 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=32681121 #FOAvip English Wikipedia <ref>{{Cite pmid|32681121}}</ref> ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population #MMPMID32681121 Benetti E; Tita R; Spiga O; Ciolfi A; Birolo G; Bruselles A; Doddato G; Giliberti A; Marconi C; Musacchia F; Pippucci T; Torella A; Trezza A; Valentino F; Baldassarri M; Brusco A; Asselta R; Bruttini M; Furini S; Seri M; Nigro V; Matullo G; Tartaglia M; Mari F; Renieri A; Pinto AM Eur J Hum Genet 2020[Nov]; 28 (11): 1602-1614 PMID32681121show ga In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to a novel coronavirus (SARS-CoV-2) was 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 been shown that SARS-CoV-2 utilizes 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 whole-exome sequencing data of 6930 Italian control individuals from five different centers looking for ACE2 variants. A number of variants with a potential impact on protein stability were identified. Among these, three more common missense changes, p.(Asn720Asp), p.(Lys26Arg), and p.(Gly211Arg) were predicted to interfere with protein structure and stabilization. Rare variants likely interfering with the internalization process, namely p.(Leu351Val) and p.(Pro389His), predicted to interfere with SARS-CoV-2 spike protein binding, were also observed. Comparison of ACE2 WES data between a cohort of 131 patients and 258 controls allowed identifying a statistically significant (P value < 0.029) higher allelic variability in controls compared with patients. These findings suggest that a predisposing genetic background may contribute to the observed interindividual clinical variability associated with COVID-19, allowing an evidence-based risk assessment leading to personalized preventive measures and therapeutic options. |Aged[MESH] |Angiotensin-Converting Enzyme 2[MESH] |Betacoronavirus/chemistry[MESH] |COVID-19[MESH] |Cohort Studies[MESH] |Coronavirus Infections/epidemiology/*genetics/virology[MESH] |Databases, Genetic[MESH] |Exome Sequencing[MESH] |Female[MESH] |Frameshift Mutation[MESH] |Genetic Predisposition to Disease[MESH] |Humans[MESH] |Italy/epidemiology[MESH] |Male[MESH] |Middle Aged[MESH] |Molecular Dynamics Simulation[MESH] |Mutation, Missense[MESH] |Pandemics[MESH] |Peptidyl-Dipeptidase A/chemistry/*genetics/metabolism[MESH] |Pneumonia, Viral/epidemiology/*genetics/virology[MESH] |Protein Stability[MESH] |SARS-CoV-2[MESH]ACE2 gene variants may underlie interindividual variability and suscep(epmc).pdf DeepDyve Pubget Overpricing