id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-274366-t138l6px	Benetti, Elisa	ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population	2020-07-17		.txt	text/plain	4525	247	49	Taking advantage of the Network of Italian Genomes (NIG), a consortium established to generate a public database (NIG-db) containing aggregate variant frequencies data for the Italian population (http://www.nig.cineca.it/), here we describe the genetic variation of ACE2 in the Italian population, one of the newly affected countries by the SARS-CoV-2 outbreak causing COVID-19. In order to shed light on the role of ACE2 variants on interindividual variability and susceptibility to COVID-19 in Italian population we performed WES analysis on a cohort of 131 patients and 258 controls who agreed in participating to the study (see "Materials and methods"). These variants which surround residual essentials for the SARS-CoV-2 spike protein binding were predicted to likely affect the cleavage-dependent virion intake, such as the polymorphic c.2158A>G p.(Asn720Asp) (allele frequency 0.011) which lies four amino acids from the cleavage sequence of TMPRSS2 or to have a substantial impact on protein structure and spike protein interaction by MD simulation (Fig. 3a) .	./cache/cord-274366-t138l6px.txt	./txt/cord-274366-t138l6px.txt