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Vitamin D-related polymorphisms and vitamin D levels as risk biomarkers of COVID-19 disease severity

dc.contributor.authorFreitas, Ana Teresa
dc.contributor.authorCalhau, Conceição
dc.contributor.authorCalhau, Conceição
dc.contributor.authorAntunes, Gonçalo
dc.contributor.authorAraújo, Beatriz
dc.contributor.authorBandeira, Matilde
dc.contributor.authorBarreira, Sofia
dc.contributor.authorBazenga, Filipa
dc.contributor.authorBraz, Sandra
dc.contributor.authorCaldeira, Daniel
dc.contributor.authorSantos, Susana Constantino Rosa
dc.contributor.authorFaria, Ana
dc.contributor.authorFaria, Daniel
dc.contributor.authorFraga, Marta
dc.contributor.authorNogueira-Garcia, Beatriz
dc.contributor.authorGonçalves, Lúcia
dc.contributor.authorKovalchuk, Pavlo
dc.contributor.authorLacerda, Luísa
dc.contributor.authorLopes, Hugo
dc.contributor.authorLuís, Daniel
dc.contributor.authorMedeiros, Fábio
dc.contributor.authorMelo, Ana M.P.
dc.contributor.authorMelo-Cristino, José
dc.contributor.authorMiranda, Ana
dc.contributor.authorPereira, Clara
dc.contributor.authorPinto, Ana Teresa
dc.contributor.authorPinto, João
dc.contributor.authorProença, Helena
dc.contributor.authorRamos, Angélica
dc.contributor.authorRato, João P.R.
dc.contributor.authorRocha, Filipe
dc.contributor.authorRocha, Júlio César
dc.contributor.authorMoreira-Rosário, André
dc.contributor.authorVazão, Helena
dc.contributor.authorVolovetska, Yuliya
dc.contributor.authorGuimarães, João Tiago
dc.contributor.authorPinto, Fausto J.
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblNature Publishing Group
dc.date.accessioned2021-11-15T23:36:39Z
dc.date.available2021-11-15T23:36:39Z
dc.date.issued2021-12
dc.descriptionFunding Information: We thank all the study participants, who donated blood and authorized the genetic analysis and the collection of the clinical and phenotypic personal data. This project was supported by the “Fundação para a Ciência e Tecnologia”, program “Research 4 Covid-19 Apoio especial a projetos de implementação rápida para soluções inovadoras de resposta à pandemia de COVID-19”. It was also partially supported by each institution. Publisher Copyright: © 2021, The Author(s).
dc.description.abstractVitamin D is a fundamental regulator of host defences by activating genes related to innate and adaptive immunity. Previous research shows a correlation between the levels of vitamin D in patients infected with SARS-CoV-2 and the degree of disease severity. This work investigates the impact of the genetic background related to vitamin D pathways on COVID-19 severity. For the first time, the Portuguese population was characterized regarding the prevalence of high impact variants in genes associated with the vitamin D pathways. This study enrolled 517 patients admitted to two tertiary Portuguese hospitals. The serum concentration of 25 (OH)D, was measured in the hospital at the time of patient admission. Genetic variants, 18 variants, in the genes AMDHD1, CYP2R1, CYP24A1, DHCR7, GC, SEC23A, and VDR were analysed. The results show that polymorphisms in the vitamin D binding protein encoded by the GC gene are related to the infection severity (p = 0.005). There is an association between vitamin D polygenic risk score and the serum concentration of 25 (OH)D (p = 0.04). There is an association between 25 (OH)D levels and the survival and fatal outcomes (p = 1.5e−4). The Portuguese population has a higher prevalence of the DHCR7 RS12785878 variant when compared with its prevalence in the European population (19% versus 10%). This study shows a genetic susceptibility for vitamin D deficiency that might explain higher severity degrees in COVID-19 patients. These results reinforce the relevance of personalized strategies in the context of viral diseases. Trial registration: NCT04370808.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent1945108
dc.identifier.doi10.1038/s41598-021-99952-z
dc.identifier.issn2045-2322
dc.identifier.otherPURE: 34617811
dc.identifier.otherPURE UUID: dea3527f-64d2-452c-b83d-b2fe88492e5b
dc.identifier.otherScopus: 85117722954
dc.identifier.otherPubMed: 34675344
dc.identifier.otherWOS: 000709931300057
dc.identifier.urihttp://hdl.handle.net/10362/127790
dc.identifier.urlhttps://www.scopus.com/pages/publications/85117722954
dc.language.isoeng
dc.peerreviewedyes
dc.subjectGeneral
dc.titleVitamin D-related polymorphisms and vitamin D levels as risk biomarkers of COVID-19 disease severityen
dc.typejournal article
degois.publication.issue1
degois.publication.titleScientific Reports
degois.publication.volume11
dspace.entity.typePublication
person.familyNameCalhau
person.givenNameConceição
person.identifier.ciencia-id2110-0420-1717
person.identifier.orcid0000-0001-9567-3379
person.identifier.scopus-author-id6701578877
rcaap.rightsopenAccess
relation.isAuthorOfPublication32b016c8-810a-40be-b9ee-ddfb07668a78
relation.isAuthorOfPublication.latestForDiscovery32b016c8-810a-40be-b9ee-ddfb07668a78

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