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A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19

OBJECTIVE AND DESIGN: The heterogeneity of response to SARS-CoV-2 infection is directly linked to the individual genetic background. Genetic variants of inflammasome-related genes have been pointed as risk factors for several inflammatory sterile and infectious disease. In the group of inflammasome...

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Autores principales: Leal, Vinicius N. C., Paulino, Leandro M., Cambui, Raylane A. G., Zupelli, Thiago G., Yamada, Suemy M., Oliveira, Leonardo A. T., Dutra, Valéria de F., Bub, Carolina B., Sakashita, Araci M., Yokoyama, Ana Paula H., Kutner, José M., Vieira, Camila A., Santiago, Wellyngton M. de S., Andrade, Milena M. S., Teixeira, Franciane M. E., Alberca, Ricardo W., Gozzi-Silva, Sarah C., Yendo, Tatiana M., Netto, Lucas C., Duarte, Alberto J. S., Sato, Maria N., Venturini, James, Pontillo, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684769/
https://www.ncbi.nlm.nih.gov/pubmed/36416944
http://dx.doi.org/10.1007/s00011-022-01670-3
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author Leal, Vinicius N. C.
Paulino, Leandro M.
Cambui, Raylane A. G.
Zupelli, Thiago G.
Yamada, Suemy M.
Oliveira, Leonardo A. T.
Dutra, Valéria de F.
Bub, Carolina B.
Sakashita, Araci M.
Yokoyama, Ana Paula H.
Kutner, José M.
Vieira, Camila A.
Santiago, Wellyngton M. de S.
Andrade, Milena M. S.
Teixeira, Franciane M. E.
Alberca, Ricardo W.
Gozzi-Silva, Sarah C.
Yendo, Tatiana M.
Netto, Lucas C.
Duarte, Alberto J. S.
Sato, Maria N.
Venturini, James
Pontillo, Alessandra
author_facet Leal, Vinicius N. C.
Paulino, Leandro M.
Cambui, Raylane A. G.
Zupelli, Thiago G.
Yamada, Suemy M.
Oliveira, Leonardo A. T.
Dutra, Valéria de F.
Bub, Carolina B.
Sakashita, Araci M.
Yokoyama, Ana Paula H.
Kutner, José M.
Vieira, Camila A.
Santiago, Wellyngton M. de S.
Andrade, Milena M. S.
Teixeira, Franciane M. E.
Alberca, Ricardo W.
Gozzi-Silva, Sarah C.
Yendo, Tatiana M.
Netto, Lucas C.
Duarte, Alberto J. S.
Sato, Maria N.
Venturini, James
Pontillo, Alessandra
author_sort Leal, Vinicius N. C.
collection PubMed
description OBJECTIVE AND DESIGN: The heterogeneity of response to SARS-CoV-2 infection is directly linked to the individual genetic background. Genetic variants of inflammasome-related genes have been pointed as risk factors for several inflammatory sterile and infectious disease. In the group of inflammasome receptors, NLRP1 stands out as a good novel candidate as severity factor for COVID-19 disease. METHODS: To address this question, we performed an association study of NLRP1, DPP9, CARD8, IL1B, and IL18 single nucleotide variants (SNVs) in a cohort of 945 COVID-19 patients. RESULTS: The NLRP1 p.Leu155His in the linker region, target of viral protease, was significantly associated to COVID-19 severity, which could contribute to the excessive cytokine release reported in severe cases. CONCLUSION: Inflammasome genetic background contributes to individual response to SARS-CoV-2. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00011-022-01670-3.
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spelling pubmed-96847692022-11-28 A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19 Leal, Vinicius N. C. Paulino, Leandro M. Cambui, Raylane A. G. Zupelli, Thiago G. Yamada, Suemy M. Oliveira, Leonardo A. T. Dutra, Valéria de F. Bub, Carolina B. Sakashita, Araci M. Yokoyama, Ana Paula H. Kutner, José M. Vieira, Camila A. Santiago, Wellyngton M. de S. Andrade, Milena M. S. Teixeira, Franciane M. E. Alberca, Ricardo W. Gozzi-Silva, Sarah C. Yendo, Tatiana M. Netto, Lucas C. Duarte, Alberto J. S. Sato, Maria N. Venturini, James Pontillo, Alessandra Inflamm Res Brief Report OBJECTIVE AND DESIGN: The heterogeneity of response to SARS-CoV-2 infection is directly linked to the individual genetic background. Genetic variants of inflammasome-related genes have been pointed as risk factors for several inflammatory sterile and infectious disease. In the group of inflammasome receptors, NLRP1 stands out as a good novel candidate as severity factor for COVID-19 disease. METHODS: To address this question, we performed an association study of NLRP1, DPP9, CARD8, IL1B, and IL18 single nucleotide variants (SNVs) in a cohort of 945 COVID-19 patients. RESULTS: The NLRP1 p.Leu155His in the linker region, target of viral protease, was significantly associated to COVID-19 severity, which could contribute to the excessive cytokine release reported in severe cases. CONCLUSION: Inflammasome genetic background contributes to individual response to SARS-CoV-2. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00011-022-01670-3. Springer International Publishing 2022-11-23 /pmc/articles/PMC9684769/ /pubmed/36416944 http://dx.doi.org/10.1007/s00011-022-01670-3 Text en © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Brief Report
Leal, Vinicius N. C.
Paulino, Leandro M.
Cambui, Raylane A. G.
Zupelli, Thiago G.
Yamada, Suemy M.
Oliveira, Leonardo A. T.
Dutra, Valéria de F.
Bub, Carolina B.
Sakashita, Araci M.
Yokoyama, Ana Paula H.
Kutner, José M.
Vieira, Camila A.
Santiago, Wellyngton M. de S.
Andrade, Milena M. S.
Teixeira, Franciane M. E.
Alberca, Ricardo W.
Gozzi-Silva, Sarah C.
Yendo, Tatiana M.
Netto, Lucas C.
Duarte, Alberto J. S.
Sato, Maria N.
Venturini, James
Pontillo, Alessandra
A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title_full A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title_fullStr A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title_full_unstemmed A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title_short A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19
title_sort common variant close to the “tripwire” linker region of nlrp1 contributes to severe covid-19
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684769/
https://www.ncbi.nlm.nih.gov/pubmed/36416944
http://dx.doi.org/10.1007/s00011-022-01670-3
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