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3. HLA association with the susceptibility to anti-synthetase syndrome

Author

Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Marquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Gómez, Nair Pérez, Mera, Antonio, Martínez-Barrio, Julia, López-Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tomero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sanchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narvaez, Javier, Trallero-Araguas, Ernesto, Selva-O’Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cavagna, Lorenzo, Castañeda, Santos, Cifrian, José M., Renzoni, Elisabetta A., López-Mejías, Raquel, and González-Gay, Miguel A.

Published
2021
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4. Inflammasome-Related Genetic Polymorphisms as Severity Biomarkers of COVID-19

Author

Pulito-Cueto, Verónica, primary, Sebastián Mora-Gil, María, additional, Ferrer-Pargada, Diego, additional, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Lera-Gómez, Leticia, additional, Alonso-Lecue, Pilar, additional, Batista-Liz, Joao Carlos, additional, Tello-Mena, Sandra, additional, Abascal-Bolado, Beatriz, additional, Izquierdo, Sheila, additional, Ruiz-Cubillán, Juan José, additional, Armiñanzas-Castillo, Carlos, additional, Blanco, Ricardo, additional, González-Gay, Miguel A., additional, López-Mejías, Raquel, additional, and Cifrián, José M., additional

Published
2024
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5. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Author

Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Genre, Fernanda, Pulito-Cueto, Verónica, Mora-Cuesta, Víctor M., Iturbe-Fernández, David, Lera-Gómez, Leticia, Pérez-Fernández, Raquel, Prieto-Peña, Diana, Irure, Juan, Romero-Bueno, Fredeswinda, Sanchez-Pernaute, Olga, Alonso-Moralejo, Rodrigo, Nuño, Laura, Bonilla, Gema, Vicente-Rabaneda, Esther F., Grafia, Ignacio, Prieto-González, Sergio, Narvaez, Javier, Trallero-Araguas, Ernesto, Selva-O’Callaghan, Albert, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López-Mejías, Raquel, and González-Gay, Miguel A.

Published
2021
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6. Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis

Author

Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Marquez, Ana, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, Javier, de Argila, Diego, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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7. Author Correction: BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Pérez, Javier Sánchez, Argila, Diego de, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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8. Vaspin in atherosclerotic disease and cardiovascular risk in axial spondyloarthritis: a genetic and serological study

Author

Rueda-Gotor, Javier, López-Mejías, Raquel, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Corrales, Alfonso, Lera-Gómez, Leticia, Portilla, Virginia, González-Mazón, Íñigo, Blanco, Ricardo, Expósito, Rosa, Mata, Cristina, Llorca, Javier, Hernández-Hernández, Vanesa, Rodríguez-Lozano, Carlos, Barbarroja, Nuria, Castro, Rafaela Ortega, Vicente, Esther, Fernández-Carballido, Cristina, Martínez-Vidal, María Paz, Castro-Corredor, David, Anino-Fernández, Joaquín, Peiteado, Diana, Plasencia-Rodríguez, Chamaida, Galíndez-Agirregoikoa, Eva, García-Vivar, María Luz, Gualillo, Oreste, Quevedo-Abeledo, Juan Carlos, Castañeda, Santos, Ferraz-Amaro, Iván, González-Gay, Miguel Á., and Genre, Fernanda

Published
2021
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9. BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, José A., Caminal-Montero, Luis, Collado, Paz, Pérez, Javier Sánchez, de Argila, Diego, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González-Gay, Miguel A., and López-Mejías, Raquel

Published
2021
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10. Osteopontin as a Biomarker in Interstitial Lung Diseases.

Author

Iturbe-Fernández, David, Pulito-Cueto, Verónica, Mora-Cuesta, Víctor M., Remuzgo-Martínez, Sara, Ferrer-Pargada, Diego J., Genre, Fernanda, Alonso-Lecue, Pilar, López-Mejías, Raquel, Atienza-Mateo, Belén, González-Gay, Miguel A., and Cifrián-Martínez, José M.

Subjects
GENE expression, OSTEOPONTIN, VITAL capacity (Respiration), BIOMARKERS, TISSUE remodeling
Abstract

Osteopontin (OPN) is a glycoprotein involved in Th1 and Th17 differentiation, and inflammation and tissue remodeling. OPN is a biomarker of disease activity in patients with autoimmune inflammatory conditions. This study aimed to assess the diagnostic and prognostic value of OPN in interstitial lung diseases (ILDs). Between May 2016 and October 2019, 344 patients with ILD were recruited at the Hospital Universitario Marqués de Valdecilla (Spain) and were prospectively followed-up. This study involved the determination of OPN serum levels by ELISA and OPN RNA expression quantified using qPCR. Six genetic polymorphisms in OPN (rs28357094, rs2853749, rs2853750, rs11728697, rs7695531, and rs1126616) were genotyped using TaqMan assays. OPN serum levels were also assessed in 140 healthy controls. OPN serum levels (median [interquartile range]) were significantly higher in ILD patients than in controls (1.05 [0.75–1.51] ng/mL versus 0.81 [0.65–0.98] ng/mL in healthy controls; p < 0.01). OPN serum levels were inversely correlated with the forced vital capacity. OPN serum levels were also higher in ILD patients who died or underwent lung transplantation when compared with the remaining ILD patients (1.15 [0.80–1.72] ng/mL versus 0.99 [0.66–1.32] ng/mL; p = 0.05). Survival worsened in ILD patients with OPN > 1.03 ng/mL at 1, 3, and 5 years. No statistically significant differences in the genetic frequencies of OPN polymorphisms or the RNA expression were found among the different ILD groups. Elevated levels of OPN in the serum may be a useful indicator in identifying patients with ILD who are more likely to experience poor outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Endothelin-1 as a potential biomarker of interstitial lung disease in patients with rheumatoid arthritis

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Atienza-Mateo, Belen, additional, Genre, Fernanda, additional, Mora-Cuesta, Victor, additional, Iturbe-Fernández, David, additional, Sebastián Mora-Gil, María, additional, Portilla, Virginia, additional, Corrales, Alfonso, additional, Ferraz-Amaro, Iván, additional, Blanco, Ricardo, additional, López-Mejías, Raquel, additional, Cifrián, José M., additional, and González-Gay, Miguel A., additional

Published
2023
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12. IL18 as a severity locus for COVID-19

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Ferrer, Diego, additional, Sebastián Mora-Gil, María, additional, Alonso-Lecue, Pilar, additional, Tello-Mena, Sandra, additional, Abascal-Bolado, Beatriz, additional, Izquierdo, Sheila, additional, Ruiz-Cubillan, Juan Jose, additional, Armiñanzas, Carlos, additional, Blanco, Ricardo, additional, López-Mejías, Raquel, additional, Cifrián, José M., additional, and González-Gay, Miguel A., additional

Published
2023
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13. Osteopontin as a biomarker in interstitial lung diseases

Author

Pulito Cueto, Verónica, primary, Iturbe Fernández, David, additional, Mora Cuesta, Víctor Manuel, additional, Remuzgo Martínez, Sara, additional, Ferrer Pargada, Diego José, additional, Cifrián Martínez, José Manuel, additional, López Mejías, Raquel, additional, Genre, Fernanda, additional, Tello Mena, Sandra, additional, Sebastián Mora-Gil, María, additional, Izquierdo Cuervo, Sheila, additional, and González-Gay Mantecón, Miguel Ángel, additional

Published
2023
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14. Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

Author

Batista-Liz, Joao Carlos, primary, Calvo-Río, Vanesa, additional, Sebastián Mora-Gil, María, additional, Sevilla-Pérez, Belén, additional, Márquez, Ana, additional, Leonardo, María Teresa, additional, Peñalba, Ana, additional, Carmona, Francisco David, additional, Narvaez, Javier, additional, Martín-Penagos, Luis, additional, Belmar-Vega, Lara, additional, Gómez-Fernández, Cristina, additional, Caminal-Montero, Luis, additional, Collado, Paz, additional, Quiroga-Colina, Patricia, additional, Uriarte-Ecenarro, Miren, additional, Rubio, Esteban, additional, Luque, Manuel León, additional, Blanco-Madrigal, Juan María, additional, Galíndez-Agirregoikoa, Eva, additional, Martín, Javier, additional, Castañeda, Santos, additional, González-Gay, Miguel Angel, additional, Blanco, Ricardo, additional, Pulito-Cueto, Verónica, additional, and López-Mejías, Raquel, additional

Published
2023
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15. E-Selectin, ICAM-1, and ET-1 Biomarkers Address the Concern of the Challenging Diagnosis of Interstitial Lung Disease in Patients with Autoimmune Diseases

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Atienza-Mateo, Belén, additional, Mora-Cuesta, Víctor M., additional, Iturbe-Fernández, David, additional, Lera-Gómez, Leticia, additional, Mora-Gil, María Sebastián, additional, Portilla, Virginia, additional, Corrales, Alfonso, additional, Blanco, Ricardo, additional, Cifrián, José M., additional, González-Gay, Miguel A., additional, and López-Mejías, Raquel, additional

Published
2023
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16. Influence of MUC5B gene on antisynthetase syndrome

Author

López-Mejías, Raquel, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Rozas, Sonia M. Fernández, Llorca, Javier, Fernández, David Iturbe, Cuesta, Víctor M. Mora, Ortego-Centeno, Norberto, Gómez, Nair Pérez, Mera-Varela, Antonio, Martínez-Barrio, Julia, López-Longo, Francisco Javier, Mijares, Verónica, Lera-Gómez, Leticia, Usetti, María Piedad, Laporta, Rosalía, Pérez, Virginia, Gafas, Alicia De Pablo, González, María Aránzazu Alfranca, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sanchez-Pernaute, Olga, Nuno, Laura, Bonilla, Gema, Balsa, Alejandro, Hernández-González, Fernanda, Grafia, Ignacio, Prieto-González, Sergio, Narvaez, Javier, Trallero-Araguas, Ernesto, Selva-O’Callaghan, Albert, Gualillo, Oreste, Castañeda, Santos, Cavagna, Lorenzo, Cifrian, José M., and González-Gay, Miguel A.

Published
2020
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17. Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

Author

European Commission, Instituto de Salud Carlos III, Batista-Liz, Joao Carlos, Calvo-Río, Vanesa, Sebastián Mora-Gil, María, Sevilla-Pérez, Belén, Márquez, Ana, Leonardo, María Teresa, Peñalba, Ana, Carmona, F.D., Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez-Fernández, Cristina, Caminal-Montero, Luis, Collado, Paz, Quiroga, Patricia, Uriarte-Ecenarro, Miren, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, Pulito-Cueto, Verónica, López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Batista-Liz, Joao Carlos, Calvo-Río, Vanesa, Sebastián Mora-Gil, María, Sevilla-Pérez, Belén, Márquez, Ana, Leonardo, María Teresa, Peñalba, Ana, Carmona, F.D., Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez-Fernández, Cristina, Caminal-Montero, Luis, Collado, Paz, Quiroga, Patricia, Uriarte-Ecenarro, Miren, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, Pulito-Cueto, Verónica, and López-Mejías, Raquel

Abstract

ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.

Published
2023

18. Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway

Author

Prieto-Peña, Diana, Genre, Fernanda, Pulito-Cueto, Verónica, Ocejo-Vinyals, J. Gonzalo, Atienza-Mateo, Belén, Muñoz Jiménez, Alejandro, Ortiz-Sanjuán, Francisco, Romero-Yuste, Susana, Moriano, Clara, Galíndez-Agirregoikoa, E., Calvo, I., Ortego-Centeno, N., Álvarez-Rivas, Noelia, Miranda-Filloy, J. A., Baldivieso-Achá, J. P., Blanco, R., Gualillo, Oreste, Martin, Javier, Castañeda, S., López-Mejías, Raquel, Remuzgo-Martínez, S., González-Gay, M. A., Prieto-Peña, Diana, Genre, Fernanda, Pulito-Cueto, Verónica, Ocejo-Vinyals, J. Gonzalo, Atienza-Mateo, Belén, Muñoz Jiménez, Alejandro, Ortiz-Sanjuán, Francisco, Romero-Yuste, Susana, Moriano, Clara, Galíndez-Agirregoikoa, E., Calvo, I., Ortego-Centeno, N., Álvarez-Rivas, Noelia, Miranda-Filloy, J. A., Baldivieso-Achá, J. P., Blanco, R., Gualillo, Oreste, Martin, Javier, Castañeda, S., López-Mejías, Raquel, Remuzgo-Martínez, S., and González-Gay, M. A.

Abstract

OBJECTIVES: Two main different clinical phenotypes of giant cell arteritis (GCA) have been described, the classic cranial pattern and the extracranial large-vessel (LV) pattern. Since interferon gamma (IFNG) has shown to be a pivotal cytokine in the pathophysiology of GCA, our aim was to evaluate for the first time the influence of IFNG and IFNG receptor 1 (IFNGR1) polymorphisms in the different clinical phenotypes of GCA. METHODS: Two IFNG polymorphisms (rs2069718 G/A and rs1861493 A/G) and one polymorphism in IFNGR1 (rs1327474 G/A) were genotyped in 191 patients with biopsy-proven cranial GCA, 109 with extracranial LV-GCA and 490 healthy controls. A comparative study was conducted between patients with cranial and extracranial LV-GCA. RESULTS: No significant differences in genotype, allele, and haplotype frequencies of IFNG polymorphisms were found between GCA patients with the classic cranial pattern and the extracranial LV-GCA pattern. Similar results were found for genotype and allele frequencies of IFNGR1 polymorphism. It was also the case when patients with extracranial LV-GCA were compared with healthy controls. CONCLUSIONS: Our results show that IFNG and IFNGR1 polymorphisms do not influence the clinical phenotype of expression of GCA. Classic cranial GCA and extracranial LV-GCA seem to share a genetic pattern of IFNG pathway.

Published
2023

19. Mucosal immune defence polymorphisms: relevant players in IgA vasculitis?

Author

Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Genre Romero, Fernanda, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, J., Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Argila, Diego de, Rodríguez-Jiménez, Pedro, Vicente-Rabaneda, Esther F., Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Genre Romero, Fernanda, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, J., Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Argila, Diego de, Rodríguez-Jiménez, Pedro, Vicente-Rabaneda, Esther F., Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, and López-Mejías, Raquel

Published
2023

20. IgAV and IgAN: a single entity regarding CD40, BLK and BANK1 polymorphisms.

Author

Pulito-Cueto, Verónica, Genre Romero, Fernanda, Remuzgo-Martinez, Sara, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Fernández-Nebro, Antonio, Díaz-Cordoves, Gisela, Cigarran, Secundino, Calviño, Jesús, Cobelo, Carmen, Argila, Diego de, Sánchez Pérez, Javier, Uriarte-Ecenarro, Miren, Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, Martín-Penagos, Luis, Pulito-Cueto, Verónica, Genre Romero, Fernanda, Remuzgo-Martinez, Sara, Sevilla-Pérez, Belén, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Mora-Gil, María Sebastián, Caminal-Montero, Luis, Collado, Paz, Fernández-Nebro, Antonio, Díaz-Cordoves, Gisela, Cigarran, Secundino, Calviño, Jesús, Cobelo, Carmen, Argila, Diego de, Sánchez Pérez, Javier, Uriarte-Ecenarro, Miren, Rubio Romero, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martin Ibáñez, Javier, Castañeda, Santos, González-Gay, M. A., Blanco, Ricardo, López-Mejías, Raquel, and Martín-Penagos, Luis

Published
2023

21. Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism

Author

Genre, Fernanda, Prieto-Peña, Diana, Pulito-Cueto, Verónica, Gonzalo Ocejo-Vinyals, Javier, Atienza-Mateo, Belén, Ortiz-Sanjuán, Francisco, Romero-Yuste, Susana, Galíndez-Agirregoikoa, E., Calvo, Itziar, Ortego-Centeno, Norberto, Álvarez-Rivas, Noelia, Miranda-Filloy, J. A., Llorente, Irene, Blanco, Ricardo, Gualillo, Oreste, Martin, Javier, Castañeda, Santos, López-Mejías, Raquel, Remuzgo-Martínez, Sara, González-Gay, M. A., Muñoz Jiménez, Alejandro, Moriano, Clara, Genre, Fernanda, Prieto-Peña, Diana, Pulito-Cueto, Verónica, Gonzalo Ocejo-Vinyals, Javier, Atienza-Mateo, Belén, Ortiz-Sanjuán, Francisco, Romero-Yuste, Susana, Galíndez-Agirregoikoa, E., Calvo, Itziar, Ortego-Centeno, Norberto, Álvarez-Rivas, Noelia, Miranda-Filloy, J. A., Llorente, Irene, Blanco, Ricardo, Gualillo, Oreste, Martin, Javier, Castañeda, Santos, López-Mejías, Raquel, Remuzgo-Martínez, Sara, González-Gay, M. A., Muñoz Jiménez, Alejandro, and Moriano, Clara

Abstract

Since interleukin-6 (IL-6) is a pivotal proinflammatory cytokine implicated in the pathogenesis of giant cell arteritis (GCA), we aimed to determine the potential association of the functional IL6 -174 G/C polymorphism with GCA as well as if the single base change variation at the promoter region in the human IL-6 gene may account for differences in the clinical spectrum of GCA between cranial and extracranial large vessel vasculitis (LVV)-GCA.

Published
2023

23. Endothelin-1 as a Biomarker of Idiopathic Pulmonary Fibrosis and Interstitial Lung Disease Associated with Autoimmune Diseases

Author

Pulito-Cueto, Verónica, primary, Genre, Fernanda, additional, López-Mejías, Raquel, additional, Mora-Cuesta, Víctor Manuel, additional, Iturbe-Fernández, David, additional, Portilla, Virginia, additional, Sebastián Mora-Gil, María, additional, Ocejo-Vinyals, Javier Gonzalo, additional, Gualillo, Oreste, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Ferraz-Amaro, Iván, additional, Castañeda, Santos, additional, Cifrián Martínez, José Manuel, additional, Atienza-Mateo, Belén, additional, Remuzgo-Martínez, Sara, additional, and González-Gay, Miguel Ángel, additional

Published
2023
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24. Elevated VCAM-1, MCP-1 and ADMA serum levels related to pulmonary fibrosis of interstitial lung disease associated with rheumatoid arthritis

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Atienza-Mateo, Belén, additional, Mora-Cuesta, Víctor M., additional, Iturbe-Fernández, David, additional, Lera-Gómez, Leticia, additional, Sebastián Mora-Gil, María, additional, Prieto-Peña, Diana, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Ocejo-Vinyals, J. Gonzalo, additional, Gualillo, Oreste, additional, Ferraz-Amaro, Iván, additional, Cifrián, José M., additional, López-Mejías, Raquel, additional, and González-Gay, Miguel A., additional

Published
2022
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26. Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism

Author

Genre, Fernanda, primary, Prieto-Peña, Diana, additional, Pulito-Cueto, Verónica, additional, Ocejo-Vinyals, Javier Gonzalo, additional, Atienza-Mateo, Belén, additional, Muñoz Jiménez, Alejandro, additional, Ortiz-Sanjuán, Francisco, additional, Romero-Yuste, Susana, additional, Moriano, Clara, additional, Galíndez-Agirregoikoa, Eva, additional, Calvo, Itziar, additional, Ortego-Centeno, Norberto, additional, Álvarez-Rivas, Noelia, additional, Miranda-Filloy, José A., additional, Llorente, Irene, additional, Blanco, Ricardo, additional, Gualillo, Oreste, additional, Martín, Javier, additional, Castañeda, Santos, additional, López-Mejías, Raquel, additional, Remuzgo-Martínez, Sara, additional, and González-Gay, Miguel A., additional

Published
2022
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27. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

Author

Batista Liz, Joao Carlos, primary, Genre, Fernanda, additional, Pulito-Cueto, Verónica, additional, Remuzgo-Martínez, Sara, additional, Prieto-Peña, Diana, additional, Márquez, Ana, additional, Ortego-Centeno, Norberto, additional, Leonardo, María Teresa, additional, Peñalba, Ana, additional, Narváez, Javier, additional, Martín-Penagos, Luis, additional, Belmar-Vega, Lara, additional, Gómez-Fernández, Cristina, additional, Miranda-Filloy, José A., additional, Caminal-Montero, Luis, additional, Collado, Paz, additional, De Árgila, Diego, additional, Quiroga-Colina, Patricia, additional, Vicente-Rabaneda, Esther F., additional, Triguero-Martínez, Ana, additional, Rubio, Esteban, additional, León Luque, Manuel, additional, Blanco-Madrigal, Juan María, additional, Galíndez-Agirregoikoa, Eva, additional, Martín, Javier, additional, Gualillo, Oreste, additional, Blanco, Ricardo, additional, Castañeda, Santos, additional, González-Gay, Miguel A., additional, and López-Mejías, Raquel, additional

Published
2022
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28. Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway

Author

Prieto-Peña, Diana, primary, Genre, Fernanda, additional, Pulito-Cueto, Verónica, additional, Ocejo-Vinyals, Javier Gonzalo, additional, Atienza-Mateo, Belén, additional, Muñoz-Jiménez, Alejandro, additional, Ortiz-Sanjuán, Francisco, additional, Romero-Yuste, Susana, additional, Moriano, Clara, additional, Galindez-Agirregoikoa, Eva, additional, Calvo, Itziar, additional, Ortego-Centeno, Norberto, additional, Álvarez-Rivas, Noelia, additional, Miranda-Filloy, Jose A., additional, Baldivieso-Achá, Juan Pablo, additional, Blanco, Ricardo, additional, Gualillo, Oreste, additional, Martín, Javier, additional, Castañeda, Santos, additional, López-Mejías, Raquel, additional, Remuzgo-Martínez, Sara, additional, and González-Gay, Miguel A, additional

Published
2022
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29. Irisin as a Novel Biomarker of Subclinical Atherosclerosis, Cardiovascular Risk and Severe Disease in Axial Spondyloarthritis

Author

Remuzgo-Martínez, Sara, primary, Rueda-Gotor, Javier, additional, Pulito-Cueto, Verónica, additional, López-Mejías, Raquel, additional, Corrales, Alfonso, additional, Lera-Gómez, Leticia, additional, Pérez-Fernández, Raquel, additional, Portilla, Virginia, additional, González-Mazón, Íñigo, additional, Blanco, Ricardo, additional, Expósito, Rosa, additional, Mata, Cristina, additional, Llorca, Javier, additional, Hernández-Hernández, Vanesa, additional, Rodríguez-Lozano, Carlos, additional, Barbarroja, Nuria, additional, Ortega-Castro, Rafaela, additional, Vicente, Esther, additional, Fernández-Carballido, Cristina, additional, Martínez-Vidal, María Paz, additional, Castro-Corredor, David, additional, Anino-Fernández, Joaquín, additional, Peiteado, Diana, additional, Plasencia-Rodríguez, Chamaida, additional, Galíndez-Agirregoikoa, Eva, additional, García-Vivar, María Luz, additional, Vegas-Revenga, Nuria, additional, Urionaguena, Irati, additional, Gualillo, Oreste, additional, Quevedo-Abeledo, Juan Carlos, additional, Castañeda, Santos, additional, Ferraz-Amaro, Iván, additional, González-Gay, Miguel Á., additional, and Genre, Fernanda, additional

Published
2022
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30. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

Author

European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Batista-Liz, Joao Carlos, Genre, Fernanda, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Márquez, Ana, Ortego-Centeno, N., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez Fernández, Cristina, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Árgila, Diego de, Quiroga, Patricia, Vicente, Esther, Triguero-Martínez, Ana, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Gualillo, Oreste, Blanco, Ricardo, Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Batista-Liz, Joao Carlos, Genre, Fernanda, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Márquez, Ana, Ortego-Centeno, N., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Belmar, Lara, Gómez Fernández, Cristina, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Árgila, Diego de, Quiroga, Patricia, Vicente, Esther, Triguero-Martínez, Ana, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Gualillo, Oreste, Blanco, Ricardo, Castañeda, Santos, González-Gay, M. A., and López-Mejías, Raquel

Abstract

CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.

Published
2022

31. Angiogenic T Cells: Potential Biomarkers for the Early Diagnosis of Interstitial Lung Disease in Autoimmune Diseases?

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Atienza-Mateo, Belén, additional, Mora-Cuesta, Víctor M., additional, Iturbe-Fernández, David, additional, Lera-Gómez, Leticia, additional, Rodriguez-Carrio, Javier, additional, Prieto-Peña, Diana, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Gualillo, Oreste, additional, Cifrián, José M., additional, López-Mejías, Raquel, additional, and González-Gay, Miguel A., additional

Published
2022
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32. Disfunción endotelial en la enfermedad pulmonar intersticial asociada a enfermedades autoinmunes

Author

Pulito Cueto, Verónica, González-Gay Mantecón, Miguel Ángel, López Mejías, Raquel, and Universidad de Cantabria

Subjects
Cell biology, Biología molecular, Biología celular, Rheumatology, Molecular biology, Enfermedades pulmonares, Reumatología, Lung diseases
Abstract

RESUMEN: La enfermedad pulmonar intersticial (EPI) constituye una de las principales causas de muerte en los pacientes con enfermedades autoinmunes (EA). El diagnóstico de la EA-EPI+ constituye un desafío en la práctica clínica. Dada la escasez de marcadores útiles para su diagnóstico precoz y que el daño vascular es clave en el inicio de la enfermedad, el objetivo de esta tesis es dilucidar el papel de células y moléculas claves de disfunción endotelial en el daño vascular subyacente y la fibrosis pulmonar característicos de la EA-EPI+. Este trabajo plantea la utilización de marcadores celulares (EPC y TAng) y moleculares (VEGF, MCP-1, ICAM-1, VCAM-1, Selectina-E, ET-1 y ADMA) como herramientas adicionales que pueden ser integradas en un algoritmo de diagnóstico de EA-EPI+. En particular, podrían considerarse como biomarcadores de diagnóstico precoz de EPI en los pacientes con EA, así como de diagnóstico diferencial entre EA-EPI+ y fibrosis pulmonar idiopática, teniendo una potencial aplicación en la práctica clínica y contribuyendo a mejorar la calidad de vida de estos pacientes. ABSTRACT: Interstitial lung disease (ILD) is one of the main causes of death in patients with autoimmune diseases (AD). The diagnosis of AD-ILD+ is a challenge in the clinical practice. Given the scarcity of useful markers for the early diagnosis and considering that vascular damage plays a key role in the onset of the disease, the objective of this thesis is to elucidate the role of key cells and molecules of endothelial dysfunction in underlying vascular damage and pulmonary fibrosis, characteristic of AD-ILD+. This study proposes the use of cellular markers (EPC and TAng) and molecular markers (VEGF, MCP-1, ICAM-1, VCAM-1, Selectin-E, ET-1 and ADMA) as additional tools that can be integrated into a diagnostic algorithm of AD-ILD+. In particular, they can be considered as biomarkers for the early diagnosis of ILD in patients with AD as well as for the differential diagnosis between AD-ILD+ and idiopathic pulmonary fibrosis, with a potential application in the clinical practice and contributing to improve the quality of life of these patients.

Published
2022

33. Role of VEGF Polymorphisms in the Susceptibility and Severity of Interstitial Lung Disease

Author

Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, Belén, Mora Cuesta, Víctor Manuel, Iturbe Fernández, David, Fernández Rozas, Sonia María, Lera-Gómez, Leticia, Alonso Lecue, Pilar, Ussetti, María Piedad, Laporta, Rosalía, Berastegui García, Cristina, Solé, Amparo, Pérez González, Virginia Luz, De Pablo Gafas, Alicia, Gualillo, Oreste, Cifrián, José Manuel, López-Mejías, Raquel, Gonzalez-Gay, MA, Universitat Autònoma de Barcelona, Institut Català de la Salut, Vall d'Hebron Barcelona Hospital Campus, and Universidad de Cantabria

Subjects
idiopathic interstitial pneumonia, medicine.medical_specialty, Pulmons - Malalties - Aspectes genètics, Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial [DISEASES], QH301-705.5, Medicine (miscellaneous), Interstitial lung disease, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, Pulmonary function testing, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Receptor Protein-Tyrosine Kinases::Receptors, Vascular Endothelial Growth Factor [CHEMICALS AND DRUGS], Lung Disorder, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genotype, Proteïnes quinases - Receptors, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, genetics, Idiopathic interstitial pneumonia, Biology (General), health care economics and organizations, interstitial lung disease, vascular endothelial growth factor, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Haplotype, Biomarker, respiratory system, medicine.disease, respiratory tract diseases, Vascular endothelial growth factor, 030228 respiratory system, chemistry, enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES], 030220 oncology & carcinogenesis, Biomarker (medicine), enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas::receptores proteína-tirosina cinasas::receptores del factor de crecimiento del endotelio vascular [COMPUESTOS QUÍMICOS Y DROGAS], biomarker, business
Abstract

Biomarker; Interstitial lung disease; Vascular endothelial growth factor Biomarcador; Malaltia pulmonar intersticial; Factor de creixement endotelial vascular Biomarcador; Enfermedad pulmonar intersticial; Factor de crecimiento vascular endotelial The search for biomarkers that can help to establish an early diagnosis and prognosis of interstitial lung disease (ILD) is of potential interest. VEGF polymorphisms have been implicated in the development of several lung disorders. Consequently, we assessed, for the first time, the role of VEGF polymorphisms in the susceptibility and severity of ILD. A total of 436 Caucasian ILD patients (244 with idiopathic interstitial pneumonias (IIPs) and 192 with non-IIP) and 536 ethnically-matched healthy controls were genotyped for VEGF rs833061, rs1570360, rs2010963, rs3025020, and rs3025039 polymorphisms by TaqMan assays. Pulmonary function tests were collected from all the patients. VEGF serum levels were determined by ELISA in a subgroup of patients. No VEGF genotype, allele, carrier, or haplotype differences were found between ILD patients and controls as well as between IIP and non-IIP patients. However, an association of rs1570360 with IIP in women and also with lung function in IIP patients was found. None of the VEGF polymorphisms were associated with VEGF levels. In conclusion, our results suggest that VEGF does not seem to play a relevant role in ILD, although rs1570360 may influence the severity of ILD in women and a worse outcome in IIP patients. This research was partially supported by a grant from Spanish Society of Pulmonology and Thoracic Surgery (SEPAR 474-2017). S.R.-M. was supported by funds of the RETICS Program (RD16/0012/0009) from the “Instituto de Salud Carlos III” (ISCIII), co-funded by the European Regional Development Fund. V.P.-C. was supported by a pre-doctoral grant from IDIVAL (PREVAL 18/01). B.A.-M. was recipient of a “López Albo” post-residency program funded by Servicio Cántabro de Salud. L.L.-G. was supported by funds from IDIVAL (INNVAL 20/06). O.G. was beneficiary of a grant funded by Xunta de Galicia, Consellería de Educación, Universidade e Formación Profesional and Consellería de Economía, Emprego e Industria (GAIN), GPC IN607B2019/10. R.L.-M. was a recipient of a Miguel Servet type I program fellowship from the ISCIII, co-funded by the ESF, “Investing in your future” (grant CP16/00033).

Published
2021

34. Angiogenic T cells in interstitial lung diseases

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Atienza-Mateo, Belén, additional, Mora-Cuesta, Victor M., additional, Iturbe-Fernández, David, additional, Lera-Gómez, Leticia, additional, Pérez-Fernández, Raquel, additional, Alonso-Lecue, Pilar, additional, Rodriguez-Carrio, Javier, additional, Prieto-Peña, Diana, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Cifrián, Jose M., additional, López-Mejías, Raquel, additional, and González-Gay, Miguel A., additional

Published
2021
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35. Endothelial Progenitor Cells: Relevant Players in the Vasculopathy and Lung Fibrosis Associated with the Presence of Interstitial Lung Disease in Systemic Sclerosis Patients

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Atienza-Mateo, Belén, additional, Mora-Cuesta, Víctor M., additional, Iturbe-Fernández, David, additional, Lera-Gómez, Leticia, additional, Pérez-Fernández, Raquel, additional, Prieto-Peña, Diana, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Gualillo, Oreste, additional, Cifrián, José M., additional, López-Mejías, Raquel, additional, and González-Gay, Miguel A., additional

Published
2021
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36. Additional file 1 of Vaspin in atherosclerotic disease and cardiovascular risk in axial spondyloarthritis: a genetic and serological study

Author

Rueda-Gotor, Javier, López-Mejías, Raquel, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Corrales, Alfonso, Lera-Gómez, Leticia, Portilla, Virginia, González-Mazón, Íñigo, Blanco, Ricardo, Expósito, Rosa, Mata, Cristina, Llorca, Javier, Hernández-Hernández, Vanesa, Rodríguez-Lozano, Carlos, Barbarroja, Nuria, Castro, Rafaela Ortega, Vicente, Esther, Fernández-Carballido, Cristina, Martínez-Vidal, María Paz, Castro-Corredor, David, Anino-Fernández, Joaquín, Peiteado, Diana, Chamaida Plasencia-Rodríguez, Galíndez-Agirregoikoa, Eva, García-Vivar, María Luz, Gualillo, Oreste, Quevedo-Abeledo, Juan Carlos, Castañeda, Santos, Ferraz-Amaro, Iván, González-Gay, Miguel Á., and Genre, Fernanda

Abstract

Additional file 1: Supplementary Table 1. Demographic, clinical, laboratory, and cardiovascular disease-related characteristics in patients with axial spondyloarthritis carrying or not the A allele of vaspin rs7159023.

Published
2021
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37. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Author

Remuzgo Martínez, Sara, Atienza Mateo, Belén, Ocejo Vinyals, J. Gonzalo, Genre, Fernanda, Pulito Cueto, Verónica, Mora Cuesta, Víctor M., Iturbe Fernández, David, Lera Gómez, Leticia, Pérez Fernández, Raquel, Prieto Peña, Diana, Irure, Juan, Romero Bueno, Fredeswinda, Sanchez Pernaute, Olga, Alonso Moralejo, Rodrigo, Nuño, Laura, Bonilla, Gema, Vicente Rabaneda, Esther F., Grafia, Ignacio, Prieto González, Sergio, Narváez, Javier, Trallero Araguas, Ernesto, Selva O’Callaghan, Albert, Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, Moriano, Clara, Díez, Elvira, Calvo Alén, Jaime, Balsa, Alejandro, Ussetti, María Piedad, Laporta, Rosalía, Berastegui, Cristina, Solé, Amparo, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López Mejías, Raquel, González Gay, Miguel A., Spanish Biomarkers Of Antisynthetase Syndrome Consortium, Spanish Biomarkers Of Interstitial Lung Disease Consortium, Universidad de Cantabria, Institut Català de la Salut, [Remuzgo-Martínez S, Genre F, Pulito-Cueto V] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. [Atienza-Mateo B] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. López Albo’ Post Residency Programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain. Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Ocejo-Vinyals JG] Department of Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Mora-Cuesta VM] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. Pneumology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Trallero-Araguas E] Unitat de Reumatologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Selva-O'Callaghan A] Unitat de Malalties Autoimmunes Sistèmiques, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Male, Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial [DISEASES], Antisynthetase syndrome, Gastroenterology, Idiopathic pulmonary fibrosis, Genètica mèdica, 0302 clinical medicine, fenómenos genéticos::variación genética::polimorfismo genético::polimorfismo de nucleótido único [FENÓMENOS Y PROCESOS], Gene Frequency, Polymorphism (computer science), Genotype, Malalties autoimmunitàries - Aspectes genètics, diagnóstico::diagnóstico diferencial [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], 0303 health sciences, Multidisciplinary, Medical genetics, Fibrosi pulmonar, Middle Aged, respiratory system, 3. Good health, Up-Regulation, medicine.anatomical_structure, Phenotype, Biomarker (medicine), Medicine, Female, Adult, medicine.medical_specialty, Pulmons - Malalties - Aspectes genètics, Science, Polymorphism, Single Nucleotide, Article, Pulmonary fibrosis, Diagnosis, Differential, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Genetic Association Studies, 030304 developmental biology, 030203 arthritis & rheumatology, Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [PHENOMENA AND PROCESSES], Lung, Myositis, business.industry, Polimorfisme genètic, Mucin-1, medicine.disease, Idiopathic Pulmonary Fibrosis, respiratory tract diseases, Cross-Sectional Studies, enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES], Spain, Case-Control Studies, Diagnosis::Diagnosis, Differential [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], business, Lung Diseases, Interstitial, Idiopathic inflammatory myopathies, Biomarkers
Abstract

Study partially supported by a grant from Spanish Society of Pulmonology and Thoracic Surgery (SEPAR 474-2017) and from Euronanomed III / Instituto de Salud Carlos III (ISCIII) (AC17/00027) awarded to SC. SR-M is supported by funds of the RETICS Program (RD16/0012/0009) from the ISCIII, co-funded by the European Regional Development Fund. BA-M is recipient of a ‘López Albo’ Post-Residency Programme funded by Servicio Cántabro de Salud. VP-C is supported by a pre-doctoral grant from IDIVAL (PREVAL 18/01). LL-G is supported by funds from IDIVAL (INNVAL 20/06). RP-F is supported by funds of START project (FOREUM18/34). DP-P is a recipient of a Río Hortega programme fellowship from the ISCIII, co-funded by the European Social Fund (ESF, ‘Investing in your future’) (CM20/00006). OG is staff personnel of Xunta de Galicia (Servizo Galego de Saude (SERGAS)) through a research-staff stabilization contract (ISCIII/SERGAS) and his work is funded by ISCIII and the European Union FEDER fund (RD16/0012/0014 (RIER) and PI17/00409). He is beneficiary of project funds from the Research Executive Agency (REA) of the European Union in the framework of MSCA-RISE Action of the H2020 Programme, Project 734899—Olive-Net. RL-M is a recipient of a Miguel Servet type I programme fellowship from the ISCIII, co-funded by the ESF (CP16/00033)., Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients., European Union FEDER fund PI17/00409, Servicio Cántabro de Salud, Servizo Galego de Saude, Spanish Society of Pulmonology and Thoracic Surgery SEPAR 474-2017, European Commission EC 734899, CP16/00033, Research Executive Agency, Instituto de Salud Carlos III AC17/00027, CM20/00006, RD16/0012/0009, RD16/0012/0014, European Social Fund, European Regional Development Fund, Foundation for Research in Rheumatology, Instituto de Investigación Marqués de Valdecilla INNVAL 20/06, PREVAL 18/01, Servicio Gallego de Salud, START, Global Change System for Analysis, Research, and Training FOREUM18/34

Published
2021

38. Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis

Author

European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, N., Márquez, Ana, Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, Ricardo, González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Xunta de Galicia, Prieto-Peña, Diana, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, Belén, Ortego-Centeno, N., Márquez, Ana, Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, Emilio, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, Ricardo, González-Gay, M. A., and López-Mejías, Raquel

Abstract

Cytokines signalling pathway genes are crucial factors of the genetic network underlying the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular condition. An influence of the interleukin (IL)33- IL1 receptor like (IL1RL)1 signalling pathway on the increased risk of several immune-mediated diseases has been described. Accordingly, we assessed whether the IL33-IL1RL1 pathway represents a novel genetic risk factor for IgAV. Three tag polymorphisms within IL33 (rs3939286, rs7025417 and rs7044343) and three within IL1RL1 (rs2310173, rs13015714 and rs2058660), that also were previously associated with several inflammatory diseases, were genotyped in 380 Caucasian IgAV patients and 845 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when IL33 and IL1RL1 variants were analysed independently. Likewise, no statistically significant differences were found in IL33 or IL1RL1 genotype and allele frequencies when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when IL33 and IL1RL1 haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that the IL33-IL1RL1 signalling pathway does not contribute to the genetic network underlying IgAV.

Published
2021

39. BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

Author

European Commission, Instituto de Salud Carlos III, Gobierno de Cantabria, Xunta de Galicia, Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, B., Ortego-Centeno, N., Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, E., Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, R., González-Gay, M. A., López-Mejías, Raquel, European Commission, Instituto de Salud Carlos III, Gobierno de Cantabria, Xunta de Galicia, Prieto-Peña, Diana, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Atienza-Mateo, B., Llorca, Javier, Sevilla-Pérez, B., Ortego-Centeno, N., Lera-Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Rodrigo, E., Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Gualillo, Oreste, Martín, J., Castañeda, Santos, Blanco, R., González-Gay, M. A., and López-Mejías, Raquel

Abstract

BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.

Published
2021

40. HLA association with the susceptibility to anti-synthetase syndrome.

Author

Foundation for Research in Rheumatology, Instituto de Salud Carlos III, European Commission, Servicio Cántabro de Salud, Instituto de Investigación Marqués de Valdecilla, Xunta de Galicia, Scleroderma and Raynaud's UK, Versus Arthritis, Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, González Gay, M. A., Foundation for Research in Rheumatology, Instituto de Salud Carlos III, European Commission, Servicio Cántabro de Salud, Instituto de Investigación Marqués de Valdecilla, Xunta de Galicia, Scleroderma and Raynaud's UK, Versus Arthritis, Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, and González Gay, M. A.

Abstract

Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results: A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P = 1.56E–09, odds ratio–OR [95% confidence interval–CI] = 2.54 [1.84–3.50] and 21.4% versus 5.5%, P = 18.95E–18, OR [95% CI] = 4.73 [3.18–7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P = 0.0003, OR [95% CI] = 0.48 [0.31–0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P = 0.001, OR [95% CI] = 2.54 [1.39–4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions: Our results support the association of the HLA complex with the susceptibility to ASSD.

Published
2021

41. Influence of MUC5B gene on antisynthetase syndrome

Author

Medicina, Medikuntza, López Mejías, Raquel, Remuzgo Martínez, Sara, Genre, Fernanda, Pulito Cueto, Verónica, Fernández Rozas, Sonia M., Llorca, Javier, Iturbe Fernández, David, Mora Cuesta, Víctor M., Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera Varela, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Mijares, Verónica, Lera Gómez, Leticia, Usetti, María Piedad, Laporta, Rosalía, Pérez, Virginia, De Pablo Gafas, Alicia, Alfranca González, María Aránzazu, Calvo Alén, Jaime, Romero Bueno, Fredeswinda, Sánchez Pernaute, Olga, Nuño Nuño, Laura, Bonilla, Gema, Balsa, Alejandro, Hernández González, Fernanda, Grafia, Ignacio, Prieto González, Sergio, Narvaez, Javier, Trallero Araguas, Ernesto, Selva O’Callaghan, Albert, Gualillo, Oreste, Castañeda, Santos, Cavagna, Lorenzo, Cifrian, José M., González Gay, Miguel A., Medicina, Medikuntza, López Mejías, Raquel, Remuzgo Martínez, Sara, Genre, Fernanda, Pulito Cueto, Verónica, Fernández Rozas, Sonia M., Llorca, Javier, Iturbe Fernández, David, Mora Cuesta, Víctor M., Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera Varela, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Mijares, Verónica, Lera Gómez, Leticia, Usetti, María Piedad, Laporta, Rosalía, Pérez, Virginia, De Pablo Gafas, Alicia, Alfranca González, María Aránzazu, Calvo Alén, Jaime, Romero Bueno, Fredeswinda, Sánchez Pernaute, Olga, Nuño Nuño, Laura, Bonilla, Gema, Balsa, Alejandro, Hernández González, Fernanda, Grafia, Ignacio, Prieto González, Sergio, Narvaez, Javier, Trallero Araguas, Ernesto, Selva O’Callaghan, Albert, Gualillo, Oreste, Castañeda, Santos, Cavagna, Lorenzo, Cifrian, José M., and González Gay, Miguel A.

Abstract

MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.

Published
2020

42. Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis

Author

Genre, Fernanda, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Atienza-Mateo, B., Pulito-Cueto, Verónica, Llorca, J., Sevilla-Pérez, Belén, Ortego-Centeno, N., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Blanco, R., Gualillo, Oreste, Martín, J., Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Atienza-Mateo, B., Pulito-Cueto, Verónica, Llorca, J., Sevilla-Pérez, Belén, Ortego-Centeno, N., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Blanco, R., Gualillo, Oreste, Martín, J., Castañeda, Santos, González-Gay, M. A., and López-Mejías, Raquel

Abstract

OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. METHODS: Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays. RESULTS: No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IRF5 on the pathogenesis of IgAV.

Published
2020

43. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis

Author

López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Sevilla-Pérez, Belén, Llorca, J., Ortego-Centeno, N., Mijares, V., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, J., Blanco, R., Castañeda, Santos, González-Gay, M. A., López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Sevilla-Pérez, Belén, Llorca, J., Ortego-Centeno, N., Mijares, V., Lera-Gómez, L., Leonardo, María Teresa, Peñalba, Ana, Cabero, M.J., Martín-Penagos, Luis, Miranda-Filloy, J. A., Navas Parejo, A., Sánchez Pérez, J., Árgila, Diego de, Rubio, E., León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, J., Blanco, R., Castañeda, Santos, and González-Gay, M. A.

Abstract

OBJECTIVES: Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV. METHODS: Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes. RESULTS: No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IL17A on the pathogenesis of IgAV.

Published
2020

44. Role of adiponectin in non-diabetic patients with rheumatoid arthritis undergoing anti-IL-6 therapy

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Calvo-Alén, Jaime, additional, Aurrecoechea, Elena, additional, Llorente, Irene, additional, Triguero-Martinez, Ana, additional, Blanco, Ricardo, additional, Llorca, Javier, additional, Ruiz-Lucea, Esther, additional, Rivera-García, Natalia, additional, Gualillo, Oreste, additional, López-Mejías, Raquel, additional, Castañeda, Santos, additional, and González-Gay, Miguel A., additional

Published
2021
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45. Endothelial Progenitor Cells as a Potential Biomarker in Interstitial Lung Disease Associated with Rheumatoid Arthritis

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Mora-Cuesta, Víctor M., additional, Iturbe-Fernández, David, additional, Fernández-Rozas, Sonia, additional, Atienza-Mateo, Belén, additional, Lera-Gómez, Leticia, additional, Alonso-Lecue, Pilar, additional, Rodríguez-Carrio, Javier, additional, Prieto-Peña, Diana, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Gualillo, Oreste, additional, Cifrián, José M., additional, López-Mejías, Raquel, additional, and González-Gay, Miguel A., additional

Published
2020
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46. ¿Idiopathic pulmonary fibrosis or interstitial lung disease associated to connective tissue diseases? Endothelial progenitor cells as a potential tool for the differential diagnosis

Author

Pulito-Cueto, Verónica, primary, Remuzgo-Martínez, Sara, additional, Genre, Fernanda, additional, Mora Cuesta, Victor M., additional, Iturbe Fernández, David, additional, Fernandez Rozas, Sonia M., additional, Lera-Gómez, Leticia, additional, Alonso Lecue, Pilar, additional, Rodriguez-Carrio, Javier, additional, Atienza-Mateo, Belén, additional, Portilla, Virginia, additional, Blanco, Ricardo, additional, Corrales, Alfonso, additional, Lopez-Mejías, Raquel, additional, González-Gay, Miguel A., additional, and Cifrián, Jose M., additional

Published
2020
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47. Osteopontin and interleukin-6 as biomarkers of interstitial lung disease

Author

REMUZGO MARTINEZ, SARA, primary, Iturbe Fernández, David, additional, Mora Cuesta, Víctor M., additional, Genre, Fernanda, additional, Pulito-Cueto, Verónica, additional, Fernández Rozas, Sonia M, additional, Lera-Gómez, Leticia, additional, Atienza-Mateo, Belén, additional, López-Mejías, Raquel, additional, González-Gay, Miguel A, additional, and Cifrián, José M, additional

Published
2020
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48. Omentin: a biomarker of cardiovascular risk in individuals with axial spondyloarthritis

Author

Genre, Fernanda, primary, Rueda-Gotor, Javier, additional, Remuzgo-Martínez, Sara, additional, Pulito-Cueto, Verónica, additional, Corrales, Alfonso, additional, Mijares, Verónica, additional, Lera-Gómez, Leticia, additional, Portilla, Virginia, additional, Expósito, Rosa, additional, Mata, Cristina, additional, Blanco, Ricardo, additional, Llorca, Javier, additional, Hernández-Hernández, Vanesa, additional, Vicente, Esther, additional, Fernández-Carballido, Cristina, additional, Martínez-Vidal, María Paz, additional, Castro-Corredor, David, additional, Anino-Fernández, Joaquín, additional, Rodríguez-Lozano, Carlos, additional, Gualillo, Oreste, additional, Quevedo-Abeledo, Juan Carlos, additional, Castañeda, Santos, additional, Ferraz-Amaro, Iván, additional, López-Mejías, Raquel, additional, and González-Gay, Miguel Á., additional

Published
2020
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50. GENETIC AND FUNCTIONAL STUDY OF OMENTIN REGARDING CARDIOVASCULAR RISK IN AXIAL GENETIC AND FUNCTIONAL STUDY OF OMENTIN REGARDING CARDIOVASCULAR RISK IN AXIAL SPONDYLOARTHRITIS

Author

Genre, Fernanda, Rueda-Gotor, Javier, Remuzgo-Martínez, Sara, Pulito-Cueto, Verónica, Corrales, Alfonso, Mijares, Verónica, Lera-Gómez, Leticia, Portilla, Virginia, Expósito, Rosa, Mata, Cristina, Ferraz-Amaro, Iván, Hernández-Hernández, Vanessa, Castañeda, Santos, Vicente, Esther, Fernández-Carballido, Cristina, Martínez-Vidal, María Paz, Castro-Corredor, David, Anino-Fernández, Joaquín, Quevedo-Abeledo, Juan Carlos, Rodríguez-Lozano, Carlos, Blanco, Ricardo, Gualillo, Oreste, Martín, J., Llorca, Javier, López-Mejías, Raquel, and González-Gay, M. A.

Published
2019

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