The established risk factors of coronavirus disease 2019 (COVID-19) are advanced age, male sex and comorbidities, but they do not fully explain the wide spectrum of disease manifestations. Genetic factors implicated in the host antiviral response provide for novel insights into its pathogenesis. We performed an in-depth genetic analysis of chromosome 21 exploiting the genome-wide association study data, including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry from the COVID-19 Host Genetics Initiative. We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show associations with severe COVID-19. The minor alleles of the five SNPs correlated with a reduced risk of developing severe COVID-19 and high level of MX1 expression in blood. Our findings demonstrate that host genetic factors can influence the different clinical presentations of COVID-19 and that MX1 could be a potential therapeutic target.

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 / Andolfo, Immacolata; Russo, Roberta; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Rosato, Barbara Eleni; Bonfiglio, Ferdinando; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Esposito, Gabriella; Gentile, Ivan; Piscopo, Carmelo; Villani, Romolo; Fiorentino, Giuseppe; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario. - In: ISCIENCE. - ISSN 2589-0042. - 24:4(2021), p. 102322. [10.1016/j.isci.2021.102322]

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

Andolfo, Immacolata;Russo, Roberta;Lasorsa, Vito Alessandro;Cantalupo, Sueva;Bonfiglio, Ferdinando;Frisso, Giulia;Abete, Pasquale;Servillo, Giuseppe
Writing – Original Draft Preparation
;
Esposito, Gabriella;Gentile, Ivan;Zollo, Massimo;Iolascon, Achille;Capasso, Mario
2021

Abstract

The established risk factors of coronavirus disease 2019 (COVID-19) are advanced age, male sex and comorbidities, but they do not fully explain the wide spectrum of disease manifestations. Genetic factors implicated in the host antiviral response provide for novel insights into its pathogenesis. We performed an in-depth genetic analysis of chromosome 21 exploiting the genome-wide association study data, including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry from the COVID-19 Host Genetics Initiative. We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show associations with severe COVID-19. The minor alleles of the five SNPs correlated with a reduced risk of developing severe COVID-19 and high level of MX1 expression in blood. Our findings demonstrate that host genetic factors can influence the different clinical presentations of COVID-19 and that MX1 could be a potential therapeutic target.
2021
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 / Andolfo, Immacolata; Russo, Roberta; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Rosato, Barbara Eleni; Bonfiglio, Ferdinando; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Esposito, Gabriella; Gentile, Ivan; Piscopo, Carmelo; Villani, Romolo; Fiorentino, Giuseppe; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario. - In: ISCIENCE. - ISSN 2589-0042. - 24:4(2021), p. 102322. [10.1016/j.isci.2021.102322]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/848450
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