Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations

Detalhes bibliográficos
Autor(a) principal: Marçalo, Rui
Data de Publicação: 2022
Outros Autores: Neto, Sonya, Pinheiro, Miguel, Rodrigues, Ana J., Sousa, Nuno, Santos, Manuel A. S., Simão, Paula, Valente, Carla, Andrade, Lília, Marques, Alda, Moura, Gabriela R.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10773/33905
Resumo: Populations seem to respond differently to the global pandemic of severe acute respiratory syndrome coronavirus 2. Recent studies show individual variability in both susceptibility and clinical response to COVID-19 infection. People with chronic obstructive pulmonary disease (COPD) constitute one of COVID-19 risk groups, being already associated with a poor prognosis upon infection. This study aims contributing to unveil the underlying reasons for such prognosis in people with COPD and the variability in the response observed across worldwide populations, by looking at the genetic background as a possible answer to COVID-19 infection response heterogeneity. SNPs already associated with susceptibility to COVID-19 infection (rs286914 and rs12329760) and severe COVID-19 with respiratory failure (rs657152 and rs11385942) were assessed and their allelic frequencies used to calculate the probability of having multiple risk alleles. This was performed on a Portuguese case-control COPD cohort, previously clinically characterized and genotyped from saliva samples, and also on worldwide populations (European, Spanish, Italian, African, American and Asian), using publicly available frequencies data. A polygenic risk analysis was also conducted on the Portuguese COPD cohort for the two mentioned phenotypes, and also for hospitalization and survival to COVID-19 infection. No differences in genetic risk for COVID-19 susceptibility, hospitalization, severity or survival were found between people with COPD and the control group (all p-values > 0.01), either considering risk alleles individually, allelic combinations or polygenic risk scores. All populations, even those with European ancestry (Portuguese, Spanish and Italian), showed significant differences from the European population in genetic risk for both COVID-19 susceptibility and severity (all p-values < 0.0001). Our results indicate a low genetic contribution for COVID-19 infection predisposition or worse outcomes observed in people with COPD. Also, our study unveiled a high genetic heterogeneity across major world populations for the same alleles, even within European sub-populations, demonstrating the need to build a higher resolution European genetic map, so that differences in the distribution of relevant alleles can be easily accessed and used to better manage diseases, ultimately, safeguarding populations with higher genetic predisposition to such diseases.
id RCAP_14914e3710559abc4369b5313b56e554
oai_identifier_str oai:ria.ua.pt:10773/33905
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populationsCOPDGenetic riskCOVID-19PopulationsSNPsPopulations seem to respond differently to the global pandemic of severe acute respiratory syndrome coronavirus 2. Recent studies show individual variability in both susceptibility and clinical response to COVID-19 infection. People with chronic obstructive pulmonary disease (COPD) constitute one of COVID-19 risk groups, being already associated with a poor prognosis upon infection. This study aims contributing to unveil the underlying reasons for such prognosis in people with COPD and the variability in the response observed across worldwide populations, by looking at the genetic background as a possible answer to COVID-19 infection response heterogeneity. SNPs already associated with susceptibility to COVID-19 infection (rs286914 and rs12329760) and severe COVID-19 with respiratory failure (rs657152 and rs11385942) were assessed and their allelic frequencies used to calculate the probability of having multiple risk alleles. This was performed on a Portuguese case-control COPD cohort, previously clinically characterized and genotyped from saliva samples, and also on worldwide populations (European, Spanish, Italian, African, American and Asian), using publicly available frequencies data. A polygenic risk analysis was also conducted on the Portuguese COPD cohort for the two mentioned phenotypes, and also for hospitalization and survival to COVID-19 infection. No differences in genetic risk for COVID-19 susceptibility, hospitalization, severity or survival were found between people with COPD and the control group (all p-values > 0.01), either considering risk alleles individually, allelic combinations or polygenic risk scores. All populations, even those with European ancestry (Portuguese, Spanish and Italian), showed significant differences from the European population in genetic risk for both COVID-19 susceptibility and severity (all p-values < 0.0001). Our results indicate a low genetic contribution for COVID-19 infection predisposition or worse outcomes observed in people with COPD. Also, our study unveiled a high genetic heterogeneity across major world populations for the same alleles, even within European sub-populations, demonstrating the need to build a higher resolution European genetic map, so that differences in the distribution of relevant alleles can be easily accessed and used to better manage diseases, ultimately, safeguarding populations with higher genetic predisposition to such diseases.Public Library of Science2022-05-17T15:17:04Z2022-02-23T00:00:00Z2022-02-23info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10773/33905eng10.1371/journal.pone.0264009Marçalo, RuiNeto, SonyaPinheiro, MiguelRodrigues, Ana J.Sousa, NunoSantos, Manuel A. S.Simão, PaulaValente, CarlaAndrade, LíliaMarques, AldaMoura, Gabriela R.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-02-22T12:04:19Zoai:ria.ua.pt:10773/33905Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:04:51.956043Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
title Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
spellingShingle Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
Marçalo, Rui
COPD
Genetic risk
COVID-19
Populations
SNPs
title_short Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
title_full Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
title_fullStr Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
title_full_unstemmed Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
title_sort Evaluation of the genetic risk for COVID-19 outcomes in COPD and differences among worldwide populations
author Marçalo, Rui
author_facet Marçalo, Rui
Neto, Sonya
Pinheiro, Miguel
Rodrigues, Ana J.
Sousa, Nuno
Santos, Manuel A. S.
Simão, Paula
Valente, Carla
Andrade, Lília
Marques, Alda
Moura, Gabriela R.
author_role author
author2 Neto, Sonya
Pinheiro, Miguel
Rodrigues, Ana J.
Sousa, Nuno
Santos, Manuel A. S.
Simão, Paula
Valente, Carla
Andrade, Lília
Marques, Alda
Moura, Gabriela R.
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Marçalo, Rui
Neto, Sonya
Pinheiro, Miguel
Rodrigues, Ana J.
Sousa, Nuno
Santos, Manuel A. S.
Simão, Paula
Valente, Carla
Andrade, Lília
Marques, Alda
Moura, Gabriela R.
dc.subject.por.fl_str_mv COPD
Genetic risk
COVID-19
Populations
SNPs
topic COPD
Genetic risk
COVID-19
Populations
SNPs
description Populations seem to respond differently to the global pandemic of severe acute respiratory syndrome coronavirus 2. Recent studies show individual variability in both susceptibility and clinical response to COVID-19 infection. People with chronic obstructive pulmonary disease (COPD) constitute one of COVID-19 risk groups, being already associated with a poor prognosis upon infection. This study aims contributing to unveil the underlying reasons for such prognosis in people with COPD and the variability in the response observed across worldwide populations, by looking at the genetic background as a possible answer to COVID-19 infection response heterogeneity. SNPs already associated with susceptibility to COVID-19 infection (rs286914 and rs12329760) and severe COVID-19 with respiratory failure (rs657152 and rs11385942) were assessed and their allelic frequencies used to calculate the probability of having multiple risk alleles. This was performed on a Portuguese case-control COPD cohort, previously clinically characterized and genotyped from saliva samples, and also on worldwide populations (European, Spanish, Italian, African, American and Asian), using publicly available frequencies data. A polygenic risk analysis was also conducted on the Portuguese COPD cohort for the two mentioned phenotypes, and also for hospitalization and survival to COVID-19 infection. No differences in genetic risk for COVID-19 susceptibility, hospitalization, severity or survival were found between people with COPD and the control group (all p-values > 0.01), either considering risk alleles individually, allelic combinations or polygenic risk scores. All populations, even those with European ancestry (Portuguese, Spanish and Italian), showed significant differences from the European population in genetic risk for both COVID-19 susceptibility and severity (all p-values < 0.0001). Our results indicate a low genetic contribution for COVID-19 infection predisposition or worse outcomes observed in people with COPD. Also, our study unveiled a high genetic heterogeneity across major world populations for the same alleles, even within European sub-populations, demonstrating the need to build a higher resolution European genetic map, so that differences in the distribution of relevant alleles can be easily accessed and used to better manage diseases, ultimately, safeguarding populations with higher genetic predisposition to such diseases.
publishDate 2022
dc.date.none.fl_str_mv 2022-05-17T15:17:04Z
2022-02-23T00:00:00Z
2022-02-23
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10773/33905
url http://hdl.handle.net/10773/33905
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1371/journal.pone.0264009
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Public Library of Science
publisher.none.fl_str_mv Public Library of Science
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799137704198275072