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dc.contributor.authorMarçalo, R.pt_PT
dc.contributor.authorNeto, S.pt_PT
dc.contributor.authorPinheiro, M.pt_PT
dc.contributor.authorRodrigues, A. J.pt_PT
dc.contributor.authorSousa, N.pt_PT
dc.contributor.authorSantos, M. A. S.pt_PT
dc.contributor.authorSimão, P.pt_PT
dc.contributor.authorValente, C.pt_PT
dc.contributor.authorAndrade, L.pt_PT
dc.contributor.authorMarques, A.pt_PT
dc.contributor.authorMoura, G. R.pt_PT
dc.description.abstractPeople with chronic obstructive pulmonary disease (COPD) constitute one of COVID-19 risk groups for poor prognosis upon infection. Variability in predisposition and clinical response to COVID-19 exist but our understanding of these factors in the COPD population is limited. This study explored the genetic background as a possible answer to COVID-19 infection response heterogeneity, either for the poor prognosis in people with COPD or across healthy worldwide populations. Significant SNPs (susceptibility: rs286914/rs123297601–3; severity: rs657152/rs113859424) were selected from the literature and their allelic frequencies5,6 used to calculate the probability of having multiple risk alleles in both our COPD cohort and each worldwide population. A polygenic risk analysis was conducted in the COPD cohort for the two mentioned phenotypes, and 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. Alternatively, all populations, even those with European ancestry (Portuguese/Spanish/Italian), showed significant differences from the European population in genetic risk for COVID-19 susceptibility and severity (all p-values<0.0001). Our results indicated a low genetic contribution for COVID-19 infection predisposition or worse outcomes in people with COPD. Also, our study unveiled a high genetic heterogeneity across major world populations for the same alleles, even within European subpopulations.pt_PT
dc.relationinfo:eu-repo/grantAgreement/FCT/9471 - RIDTI/PTDC%2FDTP-PIC%2F2284%2F2014/PTpt_PT
dc.relationinfo:eu-repo/grantAgreement/FCT/9471 - RIDTI/PTDC%2FSAU-SER%2F28806%2F2017/PTpt_PT
dc.relationinfo:eu-repo/grantAgreement/FCT/9471 - RIDTI/PTDC%2FBIA-MIC%2F31849%2F2017/PTpt_PT
dc.relationinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04501%2F2020/PTpt_PT
dc.subjectGenetic riskpt_PT
dc.titleGenetic risk for COVID-19 outcomes in COPD and differences among worldwide populationspt_PT
dc.description.versionNot Publishedpt_PT
ua.event.date5-8 maio, 2021pt_PT
degois.publication.titleBioinformatic Open Days: 10th Editionpt_PT
Appears in Collections:ESSUA - Comunicações
DCM - Comunicações
IBIMED - Comunicações
Lab3R - Comunicações

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