Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Background: While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods: We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus...

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Autores: Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez Garrido, Elena, Planas Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler Palacín, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol Onofre, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca, Spanish Covid HGE, GENCOVID Multicenter Study
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/176821
Acceso en línea:https://hdl.handle.net/2445/176821
Access Level:acceso abierto
Palabra clave:Andrògens
COVID-19
Testosterona
Androgens
Testosterone
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spelling Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesBaldassarri, MargheritaPicchiotti, NicolaFava, FrancescaFallerini, ChiaraBenetti, ElisaDaga, SergioValentino, FlorianaDoddato, GabriellaFurini, SimoneGiliberti, AnnaritaTita, RossellaAmitrano, SaraBruttini, MirellaCroci, SusannaMeloni, IlariaPinto, Anna MariaIuso, NicolaGabbi, ChiaraSciarra, FrancescaVenneri, Mary AnnaGori, MarcoSanarico, MaurizioCrawley, Francis P.Pagotto, UbertoFanelli, FlaminiaMezzullo, MarcoDominguez Garrido, ElenaPlanas Serra, LauraSchlüter, AgathaColobran, RogerSoler Palacín, PereLapunzina, PabloTenorio, JairPujol Onofre, AuroraCastagna, Maria GraziaMarcelli, MarcoIsidori, Andrea M.Renieri, AlessandraFrullanti, ElisaMari, FrancescaSpanish Covid HGE, GENCOVID Multicenter StudyAndrògensCOVID-19TestosteronaAndrogensCOVID-19TestosteroneBackground: While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods: We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings: Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men <60 years of age (p = 0.014). Testosterone was higher in subjects with AR long-polyQ, possibly indicating receptor resistance (p = 0.042 Mann-Whitney U test). Inappropriately low serum testosterone level among carriers of the long-polyQ alleles (p = 0.0004 Mann-Whitney U test) predicted the need for intensive care in COVID-19 infected men. In agreement with the known anti-inflammatory action of testosterone, patients with long-polyQ and age ≥60 years had increased levels of CRP (p = 0.018, not accounting for multiple testing). Interpretation: We identify the first genetic polymorphism that appears to predispose some men to develop more severe disease. Failure of the endocrine feedback to overcome AR signaling defects by increasing testosterone levels during the infection leads to the polyQ tract becoming dominant to serum testosterone levels for the clinical outcome. These results may contribute to designing reliable clinical and public health measures and provide a rationale to test testosterone as adjuvant therapy in men with COVID-19 expressing long AR polyQ repeats. Funding: MIUR project "Dipartimenti di Eccellenza 2018-2020" to Department of Medical Biotechnologies University of Siena, Italy (Italian D.L. n.18 March 17, 2020) and "Bando Ricerca COVID-19 Toscana" project to Azienda Ospedaliero-Universitaria Senese. Private donors for COVID-19 research and charity funds from Intesa San Paolo.Elsevier BV2021202120212021info:eu-repo/semantics/article10 p.application/pdfhttps://hdl.handle.net/2445/176821Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1016/j.ebiom.2021.103246EBioMedicine, 2021, vol. 65https://doi.org/10.1016/j.ebiom.2021.103246cc by-nc-nd (c) Baldassarria et al., 2021http://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1768212026-05-29T05:05:01Z
dc.title.none.fl_str_mv Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
title Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
spellingShingle Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Baldassarri, Margherita
Andrògens
COVID-19
Testosterona
Androgens
COVID-19
Testosterone
title_short Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
title_full Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
title_fullStr Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
title_full_unstemmed Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
title_sort Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
dc.creator.none.fl_str_mv Baldassarri, Margherita
Picchiotti, Nicola
Fava, Francesca
Fallerini, Chiara
Benetti, Elisa
Daga, Sergio
Valentino, Floriana
Doddato, Gabriella
Furini, Simone
Giliberti, Annarita
Tita, Rossella
Amitrano, Sara
Bruttini, Mirella
Croci, Susanna
Meloni, Ilaria
Pinto, Anna Maria
Iuso, Nicola
Gabbi, Chiara
Sciarra, Francesca
Venneri, Mary Anna
Gori, Marco
Sanarico, Maurizio
Crawley, Francis P.
Pagotto, Uberto
Fanelli, Flaminia
Mezzullo, Marco
Dominguez Garrido, Elena
Planas Serra, Laura
Schlüter, Agatha
Colobran, Roger
Soler Palacín, Pere
Lapunzina, Pablo
Tenorio, Jair
Pujol Onofre, Aurora
Castagna, Maria Grazia
Marcelli, Marco
Isidori, Andrea M.
Renieri, Alessandra
Frullanti, Elisa
Mari, Francesca
Spanish Covid HGE, GENCOVID Multicenter Study
author Baldassarri, Margherita
author_facet Baldassarri, Margherita
Picchiotti, Nicola
Fava, Francesca
Fallerini, Chiara
Benetti, Elisa
Daga, Sergio
Valentino, Floriana
Doddato, Gabriella
Furini, Simone
Giliberti, Annarita
Tita, Rossella
Amitrano, Sara
Bruttini, Mirella
Croci, Susanna
Meloni, Ilaria
Pinto, Anna Maria
Iuso, Nicola
Gabbi, Chiara
Sciarra, Francesca
Venneri, Mary Anna
Gori, Marco
Sanarico, Maurizio
Crawley, Francis P.
Pagotto, Uberto
Fanelli, Flaminia
Mezzullo, Marco
Dominguez Garrido, Elena
Planas Serra, Laura
Schlüter, Agatha
Colobran, Roger
Soler Palacín, Pere
Lapunzina, Pablo
Tenorio, Jair
Pujol Onofre, Aurora
Castagna, Maria Grazia
Marcelli, Marco
Isidori, Andrea M.
Renieri, Alessandra
Frullanti, Elisa
Mari, Francesca
Spanish Covid HGE, GENCOVID Multicenter Study
author_role author
author2 Picchiotti, Nicola
Fava, Francesca
Fallerini, Chiara
Benetti, Elisa
Daga, Sergio
Valentino, Floriana
Doddato, Gabriella
Furini, Simone
Giliberti, Annarita
Tita, Rossella
Amitrano, Sara
Bruttini, Mirella
Croci, Susanna
Meloni, Ilaria
Pinto, Anna Maria
Iuso, Nicola
Gabbi, Chiara
Sciarra, Francesca
Venneri, Mary Anna
Gori, Marco
Sanarico, Maurizio
Crawley, Francis P.
Pagotto, Uberto
Fanelli, Flaminia
Mezzullo, Marco
Dominguez Garrido, Elena
Planas Serra, Laura
Schlüter, Agatha
Colobran, Roger
Soler Palacín, Pere
Lapunzina, Pablo
Tenorio, Jair
Pujol Onofre, Aurora
Castagna, Maria Grazia
Marcelli, Marco
Isidori, Andrea M.
Renieri, Alessandra
Frullanti, Elisa
Mari, Francesca
Spanish Covid HGE, GENCOVID Multicenter Study
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Andrògens
COVID-19
Testosterona
Androgens
COVID-19
Testosterone
topic Andrògens
COVID-19
Testosterona
Androgens
COVID-19
Testosterone
description Background: While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods: We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings: Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men <60 years of age (p = 0.014). Testosterone was higher in subjects with AR long-polyQ, possibly indicating receptor resistance (p = 0.042 Mann-Whitney U test). Inappropriately low serum testosterone level among carriers of the long-polyQ alleles (p = 0.0004 Mann-Whitney U test) predicted the need for intensive care in COVID-19 infected men. In agreement with the known anti-inflammatory action of testosterone, patients with long-polyQ and age ≥60 years had increased levels of CRP (p = 0.018, not accounting for multiple testing). Interpretation: We identify the first genetic polymorphism that appears to predispose some men to develop more severe disease. Failure of the endocrine feedback to overcome AR signaling defects by increasing testosterone levels during the infection leads to the polyQ tract becoming dominant to serum testosterone levels for the clinical outcome. These results may contribute to designing reliable clinical and public health measures and provide a rationale to test testosterone as adjuvant therapy in men with COVID-19 expressing long AR polyQ repeats. Funding: MIUR project "Dipartimenti di Eccellenza 2018-2020" to Department of Medical Biotechnologies University of Siena, Italy (Italian D.L. n.18 March 17, 2020) and "Bando Ricerca COVID-19 Toscana" project to Azienda Ospedaliero-Universitaria Senese. Private donors for COVID-19 research and charity funds from Intesa San Paolo.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/176821
url https://hdl.handle.net/2445/176821
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1016/j.ebiom.2021.103246
EBioMedicine, 2021, vol. 65
https://doi.org/10.1016/j.ebiom.2021.103246
dc.rights.none.fl_str_mv cc by-nc-nd (c) Baldassarria et al., 2021
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc-nd (c) Baldassarria et al., 2021
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 10 p.
application/pdf
dc.publisher.none.fl_str_mv Elsevier BV
publisher.none.fl_str_mv Elsevier BV
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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