Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats

Brucellosis is an important zoonotic disease caused by infection with Brucella spp. It generates major economic losses in livestock production worldwide. Goats are the principal hosts of B. melitensis, the main infection agent of caprine and human brucellosis. The selection of resistance-related gen...

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Main Authors: Rossi, Ursula, Hasenauer, Flavia Carolina, Caffaro, María Eugenia, Raschia, Maria Agustina, Maurizio, Estefania, Cortez, Hector Sergio, Neumann, Roberto Daniel, Poli, Mario Andres, Rossetti, Carlos Alberto
Format: info:ar-repo/semantics/artículo
Language:Inglés
Published: Elsevier 2019
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Online Access:http://hdl.handle.net/20.500.12123/4810
https://www.sciencedirect.com/science/article/pii/S1043466618304423
https://doi.org/10.1016/j.cyto.2018.11.024
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author Rossi, Ursula
Hasenauer, Flavia Carolina
Caffaro, María Eugenia
Raschia, Maria Agustina
Maurizio, Estefania
Cortez, Hector Sergio
Neumann, Roberto Daniel
Poli, Mario Andres
Rossetti, Carlos Alberto
author_browse Caffaro, María Eugenia
Cortez, Hector Sergio
Hasenauer, Flavia Carolina
Maurizio, Estefania
Neumann, Roberto Daniel
Poli, Mario Andres
Raschia, Maria Agustina
Rossetti, Carlos Alberto
Rossi, Ursula
author_facet Rossi, Ursula
Hasenauer, Flavia Carolina
Caffaro, María Eugenia
Raschia, Maria Agustina
Maurizio, Estefania
Cortez, Hector Sergio
Neumann, Roberto Daniel
Poli, Mario Andres
Rossetti, Carlos Alberto
author_sort Rossi, Ursula
collection INTA Digital
description Brucellosis is an important zoonotic disease caused by infection with Brucella spp. It generates major economic losses in livestock production worldwide. Goats are the principal hosts of B. melitensis, the main infection agent of caprine and human brucellosis. The selection of resistance-related genes is considered one of the best long-term means to improve control to bacterial infection in domestic ruminants. We performed a candidate gene association study to test if six short insertion/deletion polymorphisms (InDels) at bacterial-infection related genes influence the resistance to Brucella infection in female creole goats. InDels (IRF3-540: rs660531540, FKBP5-294: rs448529294, TIRAP-561: rs657494561, PTPRT-588: rs667380588, KALRN-989: rs667660989 and RAB5a-016: rs661537016) were resolved by PCR-capillary electrophoresis in samples from 64 cases and 64 controls for brucellosis. Allelic frequencies were significantly different between cases and controls at IRF3-540 and KALRN-989 (p = 0.001 and 0.005). Indeed, the minor alleles (a and k) at InDels IRF3-540 and KALRN-989 were more frequent among controls than cases, providing evidence that these alleles confer protection against Brucella infection. Moreover, IRF3-540 a-containing genotypes (Aa and aa) were associated with absence of Brucella-specific antibodies in goats (p = 0.003; OR = 3.52; 95% CI = 1.55–7.96), and more specifically, a-allele was associated with resistance to Brucella infection in a dose-dependent manner. Also, we observed that the IRF3-540 deletion (a-allele) extends a conserved upstream ORF by 75 nucleotides to the main ORF, and thus it may decrease gene expression by reducing translation efficiency from the main ORF. These results suggest a potential functional role of IRF3-540 deletion in genetic resistance to Brucella infection in goats.
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spelling INTA48102023-04-24T11:54:57Z Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats Rossi, Ursula Hasenauer, Flavia Carolina Caffaro, María Eugenia Raschia, Maria Agustina Maurizio, Estefania Cortez, Hector Sergio Neumann, Roberto Daniel Poli, Mario Andres Rossetti, Carlos Alberto Brucellosis Genetic Resistance Polymorphism Goats Brucelosis Resistencia Genética Polimorfismo Caprinos Brucellosis is an important zoonotic disease caused by infection with Brucella spp. It generates major economic losses in livestock production worldwide. Goats are the principal hosts of B. melitensis, the main infection agent of caprine and human brucellosis. The selection of resistance-related genes is considered one of the best long-term means to improve control to bacterial infection in domestic ruminants. We performed a candidate gene association study to test if six short insertion/deletion polymorphisms (InDels) at bacterial-infection related genes influence the resistance to Brucella infection in female creole goats. InDels (IRF3-540: rs660531540, FKBP5-294: rs448529294, TIRAP-561: rs657494561, PTPRT-588: rs667380588, KALRN-989: rs667660989 and RAB5a-016: rs661537016) were resolved by PCR-capillary electrophoresis in samples from 64 cases and 64 controls for brucellosis. Allelic frequencies were significantly different between cases and controls at IRF3-540 and KALRN-989 (p = 0.001 and 0.005). Indeed, the minor alleles (a and k) at InDels IRF3-540 and KALRN-989 were more frequent among controls than cases, providing evidence that these alleles confer protection against Brucella infection. Moreover, IRF3-540 a-containing genotypes (Aa and aa) were associated with absence of Brucella-specific antibodies in goats (p = 0.003; OR = 3.52; 95% CI = 1.55–7.96), and more specifically, a-allele was associated with resistance to Brucella infection in a dose-dependent manner. Also, we observed that the IRF3-540 deletion (a-allele) extends a conserved upstream ORF by 75 nucleotides to the main ORF, and thus it may decrease gene expression by reducing translation efficiency from the main ORF. These results suggest a potential functional role of IRF3-540 deletion in genetic resistance to Brucella infection in goats. Instituto de Patobiología Fil: Rossi, Ursula. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Patobiología; Argentina Fil: Hasenauer, Flavia Carolina. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Patobiología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Caffaro, Marí­a Eugenia. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina Fil: Raschia, Maria Agustina. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina Fil: Maurizio, Estefania. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Patobiología; Argentina Fil: Cortez, Hector Sergio. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Investigación Animal del Chaco Semiárido; Argentina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; Argentina Fil: Neumann, Roberto Daniel. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Investigación Animal del Chaco Semiárido; Argentina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; Argentina Fil: Poli, Mario Andres. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Genética; Argentina Fil: Rossetti, Carlos Alberto. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Patobiología; Argentina 2019-04-04T11:03:24Z 2019-04-04T11:03:24Z 2019-03 info:ar-repo/semantics/artículo info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/20.500.12123/4810 https://www.sciencedirect.com/science/article/pii/S1043466618304423 1096-0023 https://doi.org/10.1016/j.cyto.2018.11.024 eng info:eu-repograntAgreement/INTA/PNBIO/1131033/AR./Genómica y biotecnología aplicada a la cría animal. info:eu-repo/semantics/restrictedAccess application/pdf Elsevier Cytokine 115 : 109-115 (Marzo 2019)
spellingShingle Brucellosis
Genetic Resistance
Polymorphism
Goats
Brucelosis
Resistencia Genética
Polimorfismo
Caprinos
Rossi, Ursula
Hasenauer, Flavia Carolina
Caffaro, María Eugenia
Raschia, Maria Agustina
Maurizio, Estefania
Cortez, Hector Sergio
Neumann, Roberto Daniel
Poli, Mario Andres
Rossetti, Carlos Alberto
Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title_full Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title_fullStr Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title_full_unstemmed Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title_short Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
title_sort association of an irf3 putative functional uorf variant with resistance to brucella infection a candidate gene based analysis of indel polymorphisms in goats
topic Brucellosis
Genetic Resistance
Polymorphism
Goats
Brucelosis
Resistencia Genética
Polimorfismo
Caprinos
url http://hdl.handle.net/20.500.12123/4810
https://www.sciencedirect.com/science/article/pii/S1043466618304423
https://doi.org/10.1016/j.cyto.2018.11.024
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