Please use this identifier to cite or link to this item: http://hdl.handle.net/10174/38167

Title: Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
Authors: David, Suzana
Castro, Liliana
Duarte, Elsa Leclerc
Gaspar, Ulisses
da Costa Rodrigues, Maria Rosário
Cueto-Rojo, Maria Vanessa
Mendonça, Joana
Ferrão, José
Machado, Miguel
Poças, José
Lavinha, João
Vieira, Luís
Santos, Ana Sofia
Keywords: Chronic Q fever
IFN-γ signaling
Candidate gene association study (CGAS)
NGS
Haplotype
Issue Date: Feb-2025
Citation: Susana David, Liliana Castro, Elsa Duarte, Ulisses Gaspar, Maria Rosário da Costa Rodrigues, Maria Vanessa Cueto-Rojo, Joana Mendonça, José Ferrão, Miguel Machado, José Poças, João Lavinha, Luís Vieira, Ana Sofia Santos, Genetic variants in the IFNGR2 locus associated with severe chronic Q fever, Human Immunology, Volume 86, Issue 3, 2025, 111271, ISSN 0198-8859, https://doi.org/10.1016/j.humimm.2025.111271. (https://www.sciencedirect.com/science/article/pii/S0198885925000424)
Abstract: Q 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.
URI: http://hdl.handle.net/10174/38167
Type: article
Appears in Collections:MED - Publicações - Artigos em Revistas Internacionais Com Arbitragem Científica

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