Host genomic information, specifically genomic variations, may characterize susceptibility to disease and identify people with a higher risk of harm, leading to better targeting of care and vaccination. Italy was the epicentre for the spread of COVID-19 in Europe, the first country to go into a national lockdown and has one of the highest COVID-19 associated mortality rates. Qatar, on the other hand has a very low mortality rate. In this study, we compared whole-genome sequencing data of 14398 adults and Qatari-national to 925 Italian individuals. We also included in the comparison whole-exome sequence data from 189 Italian laboratory-confirmed COVID-19 cases. We focused our study on a curated list of 3619 candidate genes involved in innate immunity and host-pathogen interaction. Two population-gene metric scores, the Delta Singleton-Cohort variant score (DSC) and Sum Singleton-Cohort variant score (SSC), were applied to estimate the presence of selective constraints in the Qatari population and in the Italian cohorts. Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction.

Mbarek, H., Cocca, M., Al-Sarraj, Y., Saad, C., Mezzavilla, M., Almuftah, W., et al. (2021). Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations. GENES, 12(11) [10.3390/genes12111842].

Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations

Novelli G.;
2021-11-01

Abstract

Host genomic information, specifically genomic variations, may characterize susceptibility to disease and identify people with a higher risk of harm, leading to better targeting of care and vaccination. Italy was the epicentre for the spread of COVID-19 in Europe, the first country to go into a national lockdown and has one of the highest COVID-19 associated mortality rates. Qatar, on the other hand has a very low mortality rate. In this study, we compared whole-genome sequencing data of 14398 adults and Qatari-national to 925 Italian individuals. We also included in the comparison whole-exome sequence data from 189 Italian laboratory-confirmed COVID-19 cases. We focused our study on a curated list of 3619 candidate genes involved in innate immunity and host-pathogen interaction. Two population-gene metric scores, the Delta Singleton-Cohort variant score (DSC) and Sum Singleton-Cohort variant score (SSC), were applied to estimate the presence of selective constraints in the Qatari population and in the Italian cohorts. Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction.
nov-2021
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - GENETICA MEDICA
English
COVID-19; COVID-19 severity; genetic constraints; population genetics; Adult; Alleles; COVID-19; Communicable Disease Control; Disease Susceptibility; Exome; Female; Gene Frequency; Genetic Predisposition to Disease; Genetics, Population; Genomics; Host Microbial Interactions; Humans; Immunity, Innate; Italy; Male; Qatar; SARS-CoV-2; Whole Exome Sequencing; Whole Genome Sequencing
Mbarek, H., Cocca, M., Al-Sarraj, Y., Saad, C., Mezzavilla, M., Almuftah, W., et al. (2021). Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations. GENES, 12(11) [10.3390/genes12111842].
Mbarek, H; Cocca, M; Al-Sarraj, Y; Saad, C; Mezzavilla, M; Almuftah, W; Cocciadiferro, D; Novelli, A; Quinti, I; Altawashi, A; Salvaggio, S; Althani, A; Novelli, G; Ismail, Si
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/294694
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