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Genetic variants in the IFNGR2 locus associated with severe chronic Q fever

2025-03-08Journal article Open access
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dc.contributor.authorDavid, Susana
dc.contributor.authorCastro, Liliana
dc.contributor.authorDuarte, Elsa
dc.contributor.authorGaspar, Ulisses
dc.contributor.authorRodrigues, Maria Rosário da Costa
dc.contributor.authorCueto-Rojo, Maria Vanessa
dc.contributor.authorMendonça, Joana
dc.contributor.authorFerrão, José
dc.contributor.authorMachado, Miguel
dc.contributor.authorPoças, José
dc.contributor.authorLavinha, João
dc.contributor.authorVieira, Luís
dc.contributor.authorSantos, Ana Sofia
dc.contributor.editorElsevier
dc.date.accessioned2025-11-12T09:56:33Z
dc.date.available2025-11-12T09:56:33Z
dc.date.issued2025-03-08
dc.description.abstractQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, including 38 compatible with acute and 15 with chronic disease, and 29 samples from the general Portuguese population. Four SNPs in the IFNGR2 locus, rs78407108 G > A, rs17879956 C > T, rs7277167 C > T, and rs9974603 C > A, showed a statistically significant association to chronic Q fever, resisting the Bonferroni correction. These belonged to haplotypes significantly associated with chronic Q fever. The individual SNPs are referenced in the GTEx database as possible eQTLs. Given the direct bearing of IFNGR2 on IFN-γ signaling, the possible involvement of the associated variants with higher IFNGR2 expression could be in line with observations suggesting that IFN-γ production in chronic Q fever patients is significantly higher than in healthy controls. Further investigations are required to clarify the role of IFNGR2 signaling in association with chronic Q fever.eng
dc.identifier.citationHum Immunol. 2025 May;86(3):111271. doi: 10.1016/j.humimm.2025.111271. Epub 2025 Mar 8
dc.identifier.doi10.1016/j.humimm.2025.111271
dc.identifier.eissn1879-1166
dc.identifier.issn0198-8859
dc.identifier.pmid40056764
dc.identifier.urihttp://hdl.handle.net/10400.18/10592
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relationQ fever - from diagnosis to eco-epidemiological investigation of Coxiella burnetii in the context of human infection
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S0198885925000424?via%3Dihub
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectChronic Q fever
dc.subjectIFNGR2
dc.subjectIFN-γ signaling
dc.subjectCandidate Gene Association Study
dc.subjectHaplotype
dc.subjectNext Generation Sequencing
dc.subjectChronic Disease
dc.subjectInfecções Sistémicas e Zoonoses
dc.titleGenetic variants in the IFNGR2 locus associated with severe chronic Q fevereng
dc.typejournal article
dcterms.referenceshttps://ars.els-cdn.com/content/image/1-s2.0-S0198885925000424-mmc1.pdf
dspace.entity.typePublication
oaire.awardTitleQ fever - from diagnosis to eco-epidemiological investigation of Coxiella burnetii in the context of human infection
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-SAP%2F115266%2F2009/PT
oaire.citation.issue3
oaire.citation.startPage111271
oaire.citation.titleHuman Immunology
oaire.citation.volume86
oaire.fundingStream3599-PPCDT
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isProjectOfPublication855b2602-1f42-4d60-ab76-44210d556ab6
relation.isProjectOfPublication.latestForDiscovery855b2602-1f42-4d60-ab76-44210d556ab6

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