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