21 results on '"Trapiella, Luis"'
Search Results
2. Adalimumab for the Treatment of Non-Infectious Uveitis: A Real Life Experience
- Author
-
Raad, Fátima, primary, Luque, Paula, additional, García Ledo, Sofía, additional, Alda Lozano, Alicia, additional, Llorens, Víctor, additional, Espejo, Antonio, additional, Heras, Henar, additional, Santana, Lucía, additional, Trapiella, Luis, additional, Fanlo, Patricia, additional, Adán, Alfredo, additional, Espinosa, Gerard, additional, and Navarrete, Nuria, additional
- Published
- 2024
- Full Text
- View/download PDF
3. 1605 - EFICACIA Y SEGURIDAD DE BELIMUMAB EN LA COHORTE BELILES-GEAS
- Author
-
Espinosa, Gerard, primary, Ríos, Roberto, additional, Barilaro, Giuseppe, additional, Capdevila, Olga, additional, Alba, David Blanco, additional, Farreres, Lucio Pallarés, additional, Ballvé, Adela Marín, additional, Rubio, José Luis Callejas, additional, Trapiella, Luis, additional, Ruiz, Diana Paredes, additional, Parra, Sandra, additional, Torres, Víctor Moreno, additional, Rubio, Esther, additional, and Ruiz, Agustín Colodro, additional
- Published
- 2023
- Full Text
- View/download PDF
4. Exposure to different occupational chemicals and clinical phenotype of a cohort of patients with systemic sclerosis
- Author
-
Freire, Mayka, Sopeña, Bernardo, González-Quintela, Arturo, del Castillo, Alfredo Guillén, Moraga, Eduardo Callejas, Lledó-Ibañez, Gema M., Rubio-Rivas, Manuel, Trapiella, Luis, Argibay, Ana, Tolosa, Carles, Alfonso, Begoña Marí, Vargas-Hitos, Jose Antonio, Salas, Xavier Pla, González-Echávarri, Cristina, Chamorro, Antonio-J, Fraile, Isabel Perales, García, Andrés González, de la Red Bellvis, Gloria, Bello, David Bernal, Salomó, Antoni Castro, Jiménez Pérez de Heredia, Iratxe, Marín-Ballve, Adela, Rodríguez-Pintó, Ignasi, Saez-Comet, Luis, Ortego-Centeno, Norberto, Todolí-Parra, José Antonio, Fonollosa Pla, Vicent, and Simeón-Aznar, Carmen Pilar
- Published
- 2024
- Full Text
- View/download PDF
5. Impact of interstitial lung disease on the survival of systemic sclerosis with pulmonary arterial hypertension
- Author
-
Guillén-Del-Castillo, Alfredo, Meseguer, Manuel López, Fonollosa-Pla, Vicent, Sáez Giménez, Berta, Colunga-Argüelles, Dolores, Revilla-López, Eva, Rubio-Rivas, Manuel, Ropero, Maria José Cristo, Argibay, Ana, Barberá, Joan Albert, Pla Salas, Xavier, Martínez Meñaca, Amaya, Madroñero Vuelta, Ana Belén, Lara Padrón, Antonio, Sáez Comet, Luis, Domingo Morera, Juan Antonio, González-Echávarri, Cristina, Mombiela, Teresa, Ortego-Centeno, Norberto, Marín González, Manuela, Tolosa-Vilella, Carles, Blanco, Isabel, Escribano Subías, Pilar, Simeón-Aznar, Carmen Pilar, Aurtenetxe Pérez, Águeda, Barrios Garrido-Lestache, Elvira, Bedate Díaz, Pedro, Cifrián, José Manuel, Cristo Ropero, Maria Jose, Dos Subirá, Laura, Elías Hernández, Teresa, García Hernández, Francisco José, Carbonell, Juan Gil, Segovia, Ariadna González, Valverde, Tamara Hermida, Baldomero, Idaira Fámara Hernández, Hernández-González, Ignacio, Huertas, Julia Herrero, Palomares, Luis Jara, Arjona, Josefa Jiménez, Padrón, Antonio Lara, Lázaro-Salvador, María, López-Ramón, Marta, López-Reyes, Raquel, González, Manuela Marín, Meñaca, Amaya Martínez, Etxaniz, Francisco Javier Mazo, Velasco, Virginia Naranjo, Candelera, Remedios Otero, González, Isabel Otero, Lozano, Beatriz Rodríguez, Nieto, María Jesús Rodríguez, Soriano, Joaquín Rueda, Giménez, Berta Sáez, Safont, Belén, Llinas, Ernest Sala, Sebastián, Laura, Cubero, Javier Segovia, Domenech, María Teresa Subirana, Masmiquel, Maria Baldà, Moraga, Eduardo Callejas, Chamorro, Antonio-J., Freire, Mayka, Guillén-del-Castillo, Alfredo, Marín, Maria Teresa Herranz, Vuelta, Ana Belén Madroñero, Ballvé, Adela Marín, Fernández, Melany Pestaña, Salas, Xavier Pla, Pintó, Ignasi Rodríguez, Comet, Luis Sáez, Cervelló, Gonzalo Salvador, Parra, José Antonio Todolí, Trapiella, Luis, Hitos, José Antonio Vargas, Marín, Adela (REHAP Consortium), Institut Català de la Salut, [Guillén-Del-Castillo A, Fonollosa-Pla V, Simeón-Aznar CP] Unitat de Malalties Autoimmunes, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Meseguer ML, Revilla-López E] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Sáez Giménez B] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Fisiologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Colunga-Argüelles D] Department of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial [DISEASES] ,enfermedades respiratorias::enfermedades pulmonares::hipertensión pulmonar [ENFERMEDADES] ,Hypertension, Pulmonary ,Impacte ,enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES] ,Pulmonary hypertension ,Respiratory Tract Diseases::Lung Diseases::Hypertension, Pulmonary [DISEASES] ,Anàlisi de supervivència (Biometria) ,Pulmonary diseases ,polycyclic compounds ,Survival analysis (Biometry) ,Humans ,Familial Primary Pulmonary Hypertension ,skin and connective tissue diseases ,Hipertensió pulmonar ,Pulmonary Arterial Hypertension ,Respiratory tract diseases ,Hipotensió arterial ,Multidisciplinary ,Scleroderma, Systemic ,integumentary system ,respiratory system ,respiratory tract diseases ,Malalties dels pulmons ,Pulmons - Malalties ,Esclerosi sistemàtica progressiva - Tractament ,Impact ,Scleroderma (Disease) ,enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES] ,Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES] ,Càncer de pulmó ,Systemic sclerosis ,Lung cancer ,Esclerodèrmia ,Lung Diseases, Interstitial - Abstract
To assess severity markers and outcomes of patients with systemic sclerosis (SSc) with or without pulmonary arterial hypertension (PAH-SSc/non-PAH-SSc), and the impact of interstitial lung disease (ILD) on PAH-SSc. Non-PAH-SSc patients from the Spanish SSc registry and PAH-SSc patients from the Spanish PAH registry were included. A total of 364 PAH-SSc and 1589 non-PAH-SSc patients were included. PAH-SSc patients had worse NYHA-functional class (NYHA-FC), worse forced vital capacity (FVC) (81.2 ± 20.6% vs 93.6 ± 20.6%, P
- Published
- 2022
6. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease
- Author
-
González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R.D.J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P.C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Aguirre, Ma Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, de la Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández de Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H.W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Universidad de Salamanca, Junta de Andalucía, Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), Ministerio de Economía y Competitividad (España), Rheumatology, AII - Inflammatory diseases, Julià, Antonio [0000-0001-6064-3620], Franke, Andre [0000-0003-1530-5811], Mayes, Maureen D [0000-0001-5070-2535], Apollo - University of Cambridge Repository, Mayes, Maureen D. [0000-0001-5070-2535], and Universidad de Cantabria
- Subjects
0301 basic medicine ,Male ,Settore MED/09 - Medicina Interna ,692/699/249/2510 ,45/43 ,Gene Expression ,lcsh:Medicine ,Genome-wide association study ,Single-nucleotide polymorphism ,Locus (genetics) ,Disease ,Inflammatory diseases ,SLC22A5 ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,Crohn Disease ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,lcsh:Science ,Genetic association ,030203 arthritis & rheumatology ,Genetics ,Crohn's disease ,Multidisciplinary ,Scleroderma, Systemic ,45 ,biology ,lcsh:R ,article ,medicine.disease ,digestive system diseases ,3. Good health ,Settore MED/16 - Reumatologia ,030104 developmental biology ,Risk factors ,Genetic Loci ,Case-Control Studies ,biology.protein ,Female ,lcsh:Q ,692/499 ,Genome-Wide Association Study - Abstract
We thank Sofia Vargas and Gema Robledo for her excellent technical assistance and all the patients and control donors for their essential collaboration. We thank WTCCC (Welcome Trust Case Control Consortium) for the access to GWAS data of Crohn’s disease patients and healthy controls, Banco Nacional de ADN (University of Salamanca, Spain) who supplied part of the control DNA samples, and dbGap for granting access to the IBD Genetics Consortium (IBDGC) Crohn’s Disease GWAS data (phs000130.v1.p1). The IBDGC Crohn’s Disease Genome-Wide Association Study was conducted by the IBDGC Investigators and supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). This manuscript was not prepared in collaboration with Investigators of the IBDGC Crohn’s Disease Genome-Wide Association Study and does not necessarily reflect the opinions or views of the IBDGC Crohn’s Disease Genome-Wide Association Study, the NIDDK Central Repositories, or the NIDDK., Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases., This work was supported by the Spanish Ministry of Economy and Competitiveness (SAF2015-66761-P; IPT-010000-2010-36, cofunded by the European Regional Development Fund), Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía (Spain) (P12-BIO-1395) and the Cooperative Research Thematic Network (RETICS) programme (RD16/0012/0013) (RIER) from Instituto de Salud Carlos III (ISCIII, Spanish Ministry of Economy, Industry and Competitiveness). AM is recipient of a Miguel Servet fellowship (CP17/00008) from ISCIII (Spanish Ministry of Economy, Industry and Competitiveness). DGS was supported by the Spanish Ministry of Economy and Competitiveness through the FPI programme (SAF2015-66761-P). This work is part of the Doctoral Thesis “Bases Genéticas de la Esclerosis Sistémica: Integrando Genómica y Transcriptómica”.
- Published
- 2020
- Full Text
- View/download PDF
7. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility
- Author
-
Diaz-Gallo, Lina-Marcela, Simeon, Carmen P, Broen, Jasper C, Ortego-Centeno, Norberto, Beretta, Lorenzo, Vonk, Madelon C, Carreira, Patricia E, Vargas, Sofia, Román-Ivorra, José Andrés, González-Gay, Miguel A, Tolosa, Carlos, López-Longo, Francisco Javier, Espinosa, Gerard, Vicente, Esther F, Hesselstrand, Roger, Riemekasten, Gabriela, Witte, Torsten, Distler, Jörg H W, Voskuyl, Alexandre E, Schuerwegh, Annemie J, Shiels, Paul G, Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Scorza, Raffaella, Lunardi, Claudio, Airo, Paolo, van Laar, Jacob M, Hunzelmann, Nicolas, Gathof, Birgit S, Kreuter, Alexander, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Zhou, Xiaodong, Arnett, Frank C, Fonseca, Carmen, Koeleman, Bobby PC, Assasi, Shervin, Radstake, Timothy R D J, Mayes, Maureen D, Martín, Javier, Callejas, Jose Luis, Ríos, Raquel, Navarrete, Nuria, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., Sánchez-Román, Julio, García-Hernández, Francisco J, Castillo, M Jesús, Aguirre, M Ángeles, Gómez-Gracia, Inmaculada, Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Luis, Andreu, José Luis, de la Peña, Paloma García, Martínez, Lina, Robles, María Ángeles, Oreiro, Natividad, de Reumatología, Servicio, Fonollosa, Vicente, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Díaz, Bernardino, Trapiella, Luis, Gallego, María, del Carmen Freire, María, Vaqueiro, Inés, Egurbide, María Victoria, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, and Beltrán, Emma
- Published
- 2013
- Full Text
- View/download PDF
8. Eligibility for and outcome of treatment of latent tuberculosis infection in a cohort of HIV-infected people in Spain
- Author
-
Diaz Asuncion, Diez Mercedes, Bleda Maria, Aldamiz Mikel, Camafort Miguel, Camino Xabier, Cepeda Concepcion, Costa Asuncion, Ferrero Oscar, Geijo Paloma, Iribarren Jose, Moreno Santiago, Moreno Maria, Labarga Pablo, Pinilla Javier, Portu Joseba, Pulido Federico, Rosa Carmen, Santamaría Juan, Telenti Mauricio, Trapiella Luis, Trastoy Monica, and Viciana Pompeyo
- Subjects
Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Previous studies have demonstrated the efficacy of treatment for latent tuberculosis infection (TLTBI) in persons infected with the human immunodeficiency virus, but few studies have investigated the operational aspects of implementing TLTBI in the co-infected population.The study objectives were to describe eligibility for TLTBI as well as treatment prescription, initiation and completion in an HIV-infected Spanish cohort and to investigate factors associated with treatment completion. Methods Subjects were prospectively identified between 2000 and 2003 at ten HIV hospital-based clinics in Spain. Data were obtained from clinical records. Associations were measured using the odds ratio (OR) and its 95% confidence interval (95% CI). Results A total of 1242 subjects were recruited and 846 (68.1%) were evaluated for TLTBI. Of these, 181 (21.4%) were eligible for TLTBI either because they were tuberculin skin test (TST) positive (121) or because their TST was negative/unknown but they were known contacts of a TB case or had impaired immunity (60). Of the patients eligible for TLTBI, 122 (67.4%) initiated TLTBI: 99 (81.1%) were treated with isoniazid for 6, 9 or 12 months; and 23 (18.9%) with short-course regimens including rifampin plus isoniazid and/or pyrazinamide. In total, 70 patients (57.4%) completed treatment, 39 (32.0%) defaulted, 7 (5.7%) interrupted treatment due to adverse effects, 2 developed TB, 2 died, and 2 moved away. Treatment completion was associated with having acquired HIV infection through heterosexual sex as compared to intravenous drug use (OR:4.6; 95% CI:1.4-14.7) and with having taken rifampin and pyrazinamide for 2 months as compared to isoniazid for 9 months (OR:8.3; 95% CI:2.7-24.9). Conclusions A minority of HIV-infected patients eligible for TLTBI actually starts and completes a course of treatment. Obstacles to successful implementation of this intervention need to be addressed.
- Published
- 2010
- Full Text
- View/download PDF
9. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies
- Author
-
López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., and Oreiro, Natividad
- Subjects
Rheumatology ,Immunology ,Journal Article ,Immunology and Allergy ,skin and connective tissue diseases - Abstract
Objective: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date, several shared SSc–RA genetic loci have been identified independently. The aim of the current study was to systematically search for new common SSc–RA loci through an interdisease meta–genome-wide association (meta-GWAS) strategy. Methods: The study was designed as a meta-analysis combining GWAS data sets of patients with SSc and patients with RA, using a strategy that allowed identification of loci with both same-direction and opposite-direction allelic effects. The top single-nucleotide polymorphisms were followed up in independent SSc and RA case–control cohorts. This allowed an increase in the sample size to a total of 8,830 patients with SSc, 16,870 patients with RA, and 43,393 healthy controls. Results: This cross-disease meta-analysis of the GWAS data sets identified several loci with nominal association signals (P
- Published
- 2016
10. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies
- Author
-
Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Translationele immunologie, Infection & Immunity, López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., Oreiro, Natividad, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Translationele immunologie, Infection & Immunity, López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., and Oreiro, Natividad
- Published
- 2016
11. Early- versus Late-Onset Systemic Sclerosis
- Author
-
Alba, Marco A., Velasco, César, Simeón, Carmen Pilar, Fonollosa, Vicent, Trapiella, Luis, Egurbide, María Victoria, Sáez, Luis, Castillo, María Jesús, Callejas, José Luis, Camps, María Teresa, Tolosa, Carles, Ríos, Juan José, Freire, Mayka, Vargas, José Antonio, and Espinosa, Gerard
- Subjects
ANA = antinuclear antibodies ,Adult ,Male ,RR = relative risk ,IIF = indirect immunofluorescence ,RP = Raynaud phenomenon ,OR = odds ratio ,CI = confidence interval ,ssSSc = systemic sclerosis sine scleroderma ,Risk Factors ,ILD = interstitial lung disease ,SSc = systemic sclerosis ,ACR = American College of Rheumatology ,RESCLE = Registro de ESCLErodermia ,Humans ,Original Study ,RSHC = right-sided heart catheterization ,Age of Onset ,FVC = forced vital capacity ,Scleroderma, Systemic ,SMR = standardized mortality ratio ,lcSSc = limited cutaneous systemic sclerosis ,Middle Aged ,ACA = anticentromere antibodies ,PH = pulmonary hypertension ,dcSSc = diffuse cutaneous systemic sclerosis ,Treatment Outcome ,PAP = pulmonary arterial pressure ,Female ,SD = standard deviation - Abstract
Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤30 years (early onset), age between 31 and 59 years (standard onset), and age ≥60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients.
- Published
- 2014
12. Systemic Sclerosis Patients with Antitopoisomerase Antibodies Showed Significant Association with CCR6 Polymorphisms.
- Author
-
Martin, Javier, Ochoa, Eguzkine, Ezequiel Martin, Jose, Assassi, Shervin, Beretta, Lorenzo, Caireira, Patricia, Pilar Simeon, Carmen, Koumakis, Eugenie, Dieude, Philippe, Allanore, Yannick, Garcia-Hernandez, Francisco J., Espinosa, Gerard, Castellvi Barranco, Ivan, Trapiella, Luis, Rodriguez Rodriguez, Luis, Gonzalez-Gay, Miguel A., Egurbide, Maria-Victoria, Saez, Luis, Luis Callejas, Jose, Vargas-Hitos, J. A., Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Distler, Joerg H. W., Kreuter, Alexander, Lunardi, Claudio, Santaniello, Alessandro, Tan, Filemon K., Arnett, Frank C., Shiels, Paul, Herrick, Ariane L., Worthington, Jane, Vonk, Madelon C., Koeleman, Bobby P. C., Radstake, T. R. D. J., Mayes, Maureen, Martin, Javier, Ochoa, Eguzkine, Ezequiel Martin, Jose, Assassi, Shervin, Beretta, Lorenzo, Caireira, Patricia, Pilar Simeon, Carmen, Koumakis, Eugenie, Dieude, Philippe, Allanore, Yannick, Garcia-Hernandez, Francisco J., Espinosa, Gerard, Castellvi Barranco, Ivan, Trapiella, Luis, Rodriguez Rodriguez, Luis, Gonzalez-Gay, Miguel A., Egurbide, Maria-Victoria, Saez, Luis, Luis Callejas, Jose, Vargas-Hitos, J. A., Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Distler, Joerg H. W., Kreuter, Alexander, Lunardi, Claudio, Santaniello, Alessandro, Tan, Filemon K., Arnett, Frank C., Shiels, Paul, Herrick, Ariane L., Worthington, Jane, Vonk, Madelon C., Koeleman, Bobby P. C., Radstake, T. R. D. J., and Mayes, Maureen
- Published
- 2014
13. Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis
- Author
-
Mayes, Maureen D., primary, Bossini-Castillo, Lara, additional, Gorlova, Olga, additional, Martin, José Ezequiel, additional, Zhou, Xiaodong, additional, Chen, Wei V., additional, Assassi, Shervin, additional, Ying, Jun, additional, Tan, Filemon K., additional, Arnett, Frank C., additional, Reveille, John D., additional, Guerra, Sandra, additional, Teruel, María, additional, Carmona, Francisco David, additional, Gregersen, Peter K., additional, Lee, Annette T., additional, López-Isac, Elena, additional, Ochoa, Eguzkine, additional, Carreira, Patricia, additional, Simeón, Carmen Pilar, additional, Castellví, Iván, additional, González-Gay, Miguel Ángel, additional, Zhernakova, Alexandra, additional, Padyukov, Leonid, additional, Alarcón-Riquelme, Marta, additional, Wijmenga, Cisca, additional, Brown, Matthew, additional, Beretta, Lorenzo, additional, Riemekasten, Gabriela, additional, Witte, Torsten, additional, Hunzelmann, Nicolas, additional, Kreuter, Alexander, additional, Distler, Jörg H.W., additional, Voskuyl, Alexandre E., additional, Schuerwegh, Annemie J., additional, Hesselstrand, Roger, additional, Nordin, Annika, additional, Airó, Paolo, additional, Lunardi, Claudio, additional, Shiels, Paul, additional, van Laar, Jacob M., additional, Herrick, Ariane, additional, Worthington, Jane, additional, Denton, Christopher, additional, Wigley, Fredrick M., additional, Hummers, Laura K., additional, Varga, John, additional, Hinchcliff, Monique E., additional, Baron, Murray, additional, Hudson, Marie, additional, Pope, Janet E., additional, Furst, Daniel E., additional, Khanna, Dinesh, additional, Phillips, Kristin, additional, Schiopu, Elena, additional, Segal, Barbara M., additional, Molitor, Jerry A., additional, Silver, Richard M., additional, Steen, Virginia D., additional, Simms, Robert W., additional, Lafyatis, Robert A., additional, Fessler, Barri J., additional, Frech, Tracy M., additional, AlKassab, Firas, additional, Docherty, Peter, additional, Kaminska, Elzbieta, additional, Khalidi, Nader, additional, Jones, Henry Niall, additional, Markland, Janet, additional, Robinson, David, additional, Broen, Jasper, additional, Radstake, Timothy R.D.J., additional, Fonseca, Carmen, additional, Koeleman, Bobby P., additional, Martin, Javier, additional, Ortego-Centeno, Norberto, additional, Ríos, Raquel, additional, Callejas, José Luis, additional, Navarrete, Nuria, additional, García Portales, Rosa, additional, Camps, María Teresa, additional, Fernández-Nebro, Antonio, additional, González-Escribano, María F., additional, Sánchez-Román, Julio, additional, García-Hernández, Francisco José, additional, Castillo, María Jesús, additional, Aguirre, María Ángeles, additional, Gómez-Gracia, Inmaculada, additional, Fernández-Gutiérrez, Benjamín, additional, Rodríguez-Rodríguez, Luis, additional, Vicente, Esther, additional, Andreu, José Luis, additional, Fernández de Castro, Mónica, additional, García de la Peña, Paloma, additional, López-Longo, Francisco Javier, additional, Martínez, Lina, additional, Fonollosa, Vicente, additional, Espinosa, Gerard, additional, Tolosa, Carlos, additional, Pros, Anna, additional, Rodríguez Carballeira, Mónica, additional, Narváez, Francisco Javier, additional, Rubio Rivas, Manel, additional, Ortiz Santamaría, Vera, additional, Díaz, Bernardino, additional, Trapiella, Luis, additional, Freire, María del Carmen, additional, Sousa, Adrián, additional, Egurbide, María Victoria, additional, Fanlo Mateo, Patricia, additional, Sáez-Comet, Luis, additional, Díaz, Federico, additional, Hernández, Vanesa, additional, Beltrán, Emma, additional, Román-Ivorra, José Andrés, additional, Grau, Elena, additional, Alegre Sancho, Juan José, additional, Blanco García, Francisco J., additional, Oreiro, Natividad, additional, and Fernández Sueiro, Luis, additional
- Published
- 2014
- Full Text
- View/download PDF
14. Factores asociados con la no realización de la prueba de la tuberculina en una cohorte de pacientes VIH positivos
- Author
-
Díaz, Asunción, primary, Diez, Mercedes, additional, Bleda, Ma José, additional, Aldamiz, Mikel, additional, Camafort, Mikel, additional, Camino, Xavier, additional, Cepeda, Concepción, additional, Costa, Asunción, additional, Ferrero, Oscar, additional, Geijo, Paloma, additional, Iribarren, José Antonio, additional, Moreno, Santiago, additional, Moreno, Ma Elena, additional, Labarga, Pablo, additional, Pinilla, Javier, additional, Portu, Joseba, additional, Pulido, Federico, additional, Rosa, Carmen, additional, Santamaría, Juan Miguel, additional, Telenti, Mauricio, additional, Trapiella, Luis, additional, Trastoy, Mónica, additional, and Viciana, Pompeyo, additional
- Published
- 2010
- Full Text
- View/download PDF
15. Infliximab: una alternativa en la eritrodermia psoriásica refractaria
- Author
-
Suárez Pedreira, Iván, primary, Santos Juanes, Jorge, additional, Caminal Montero, Luis, additional, and Trapiella, Luis, additional
- Published
- 2006
- Full Text
- View/download PDF
16. Influence of the IL6Gene in Susceptibility to Systemic Sclerosis
- Author
-
CÉNIT, MARIA CARMEN, SIMEÓN, CARMEN P., VONK, MADELON C., CALLEJAS-RUBIO, JOSE L., ESPINOSA, GERARD, CARREIRA, PATRICIA, BLANCO, FRANCISCO J., NARVAEZ, JAVIER, TOLOSA, CARLOS, ROMÁN-IVORRA, JOSÉ A., GÓMEZ-GARCÍA, INMACULADA, GARCÍA-HERNÁNDEZ, FRANCISCO J., GALLEGO, MARÍA, GARCÍA-PORTALES, ROSA, EGURBIDE, MARÍA VICTORIA, FONOLLOSA, VICENTE, GARCÍA de la PEÑA, PALOMA, LÓPEZ-LONGO, FRANCISCO J., GONZÁLEZ-GAY, MIGUEL A., HESSELSTRAND, ROGER, RIEMEKASTEN, GABRIELA, WITTE, TORSTEN, VOSKUYL, ALEXANDRE E., SCHUERWEGH, ANNEMIE J., MADHOK, RAJAN, FONSECA, CARMEN, DENTON, CHRISTOPHER, NORDIN, ANNIKA, PALM, ØYVIND, van LAAR, JACOB M., HUNZELMANN, NICOLAS, DISTLER, JÖRG H.W., KREUTER, ALEXANDER, HERRICK, ARIANE, WORTHINGTON, JANE, KOELEMAN, BOBBY P., RADSTAKE, TIMOTHY R.D.J., MARTÍN, JAVIER, Ortego-Centeno, Norberto, Ríos, Raquel, Navarrete, Nuria, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., Sánchez-Román, Julio, Castillo, M. Jesús, Aguirre, Ángeles, Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Luis, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, Martínez, Lina, Castellví, Iván, Pros, Anna, Carballeira, Mónica Rodríguez, Mejías, Raquel López, Díaz, Bernardino, Trapiella, Luis, Freire, María del Carmen, Vaqueiro, Inés, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Beltrán, Emma, Robles, María Ángeles, and Oreiro, Natividad
- Abstract
Objective.Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6gene in the susceptibility and phenotype expression of SSc.Methods.We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan®allele discrimination technology.Results.Individual SNP metaanalysis showed no evidence of association of the 3 IL6genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04–1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77–0.96). In the IL6allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04–1.23).Conclusion.Our results suggest that the IL6gene may influence the development of SSc and its progression.
- Published
- 2012
- Full Text
- View/download PDF
17. Evaluation of a Shared Autoimmune Disease-associated Polymorphism of TRAF6 in Systemic Sclerosis and Giant Cell Arteritis
- Author
-
CARMONA, F. DAVID, SERRANO, AURORA, RODRÍGUEZ-RODRÍGUEZ, LUIS, CALLEJAS, JOSÉ LUIS, SIMEÓN, CARMEN P., CARREIRA, PATRICIA, CASTAÑEDA, SANTOS, SOLANS, ROSER, BLANCO, RICARDO, GONZÁLEZ-GAY, MIGUEL A., MARTÍN, JAVIER, Ortego-Centeno, Norberto, Ríos, Raquel, Navarrete, Nuria, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., Sánchez-Román, Julio, García-Hernández, Francisco José, Castillo, M. Jesús, Aguirre, M. Ángeles, Gómez-Gracia, Inmaculada, Fernández-Gutiérrez, Benjamín, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, de la Peña, Paloma García, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Espinosa, Gerard, Castellví, Iván, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Díaz, Bernardino, Trapiella, Luis, Gallego, María, del Carmen Freire, María, Vaqueiro, Inés, Egurbide, María Victoria, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, García, Francisco J. Blanco, Robles, María Ángeles, Oreiro, Natividad, Miranda-Filloy, José A., Morado, Inmaculada C., Narváez, Javier, Gómez-Vaquero, Carmen, Sopeña, Bernardo, Unzurrunzaga, Ainhoa, Marí-Alfonso, Begoña, de Miguel, Eugenio, Hidalgo-Conde, Ana, Sánchez, Julio, and García, María J.
- Abstract
Objective.We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).Methods.A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan©allele discrimination assay.Results.No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of the TRAF6polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed.Conclusion.Our data do not support a role of the rs540386 TRAF6variant as a key component of the genetic network underlying SSc and GCA.
- Published
- 2012
- Full Text
- View/download PDF
18. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease
- Author
-
González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R. D. J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., De Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P. C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma. Jesús, Aguirre, Ma. Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, De La Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández De Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H. W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, and Gabrielli, Armando
- Subjects
45 ,692/699/249/2510 ,45/43 ,article ,692/499 ,3. Good health - Abstract
Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.
19. Sjogren syndrome as the main maternal disease in mothers with babies affected with Ro-associated congenital heart block (Spanish Registry REBACC-GEAS-SEMI)
- Author
-
Retamozo, Soledad, Espinosa, Gerard, Robles, Angel, Rosich, Pilar, Saez Comet, Luis, Capdevila, Olga, Antonio Vargas, Jose, Pallares, Lucio, Trapiella, Luis, Gonzalez Nieto, Jose Antonio, Martinez Zapico, Aleida, Rodriguez, Monica, Tolosa, Carles, Mitjavila, Francesca, Perez-Conesa, Mercedes, Mario Sabio, Jose, Caminal, Luis, Oristrell, Joaquim, Morcillo, Cesar, Flores-Chavez, Alejandra, Kostov, Belchin, Manuel Ramos-Casals, and Brito-Zeron, Pilar
20. No evidence for association between the CCR5/Delta32CCR5 polymorphism and systemic sclerosis.
- Author
-
Carmona FD, Serrano-Lopera A, López-Isac E, Simeón CP, Carreira P, Rios-Fernandez R, Espinosa G, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, Beltrán E, Gómez-Garcia I, Fernández-Castro M, López-Longo FJ, García-Hernández FJ, Castellví I, Trapiella L, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, García de la Peña P, Pros A, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, González-Gay MA, and Martín J
- Subjects
- Humans, Polymorphism, Genetic genetics, Genetic Predisposition to Disease genetics, Receptors, CCR5 genetics, Scleroderma, Systemic genetics
- Published
- 2011
21. [Factors related to non-prescription of tuberculin skin testing in a cohort of HIV-infected people].
- Author
-
Díaz A, Diez M, Bleda MJ, Aldamiz M, Camafort M, Camino X, Cepeda C, Costa A, Ferrero O, Geijo P, Iribarren JA, Moreno S, Moreno ME, Labarga P, Pinilla J, Portu J, Pulido F, Rosa C, Santamaría JM, Telenti M, Trapiella L, Trastoy M, and Viciana P
- Subjects
- Adult, Cohort Studies, Comorbidity, Delayed Diagnosis, Diagnostic Tests, Routine statistics & numerical data, Emigrants and Immigrants statistics & numerical data, Female, Guideline Adherence, HIV Infections epidemiology, Humans, Male, Middle Aged, Risk Factors, Sexual Behavior, Socioeconomic Factors, Spain epidemiology, Substance Abuse, Intravenous epidemiology, Transfusion Reaction, Tuberculosis complications, Tuberculosis epidemiology, Young Adult, HIV Infections complications, Tuberculin Test statistics & numerical data, Tuberculosis diagnosis
- Abstract
Introduction: Tuberculin skin testing (TST) for tuberculosis (TB) is recommended for all patients with HIV infection because of the known relationship between these two conditions. In this report we analyze the incidence and variables associated with non-prescription of TST in a cohort of HIV-infected people., Patients and Methods: Longitudinal study conducted between 2000 and 2002 at 10 HIV hospital-based clinics. All HIV-infected patients who had not been regularly followed-up previously in dedicated clinics were identified. Data about TST and other variables related to TB were obtained from the clinical records. We calculated the percentage of patients who did not undergo TST and the associated factors, using odds ratios (ORs) and the 95% CI to investigate associations. A multivariate logistic regression analysis was performed., Results: A total of 1242 patients met the inclusion criteria. TST was not performed in 185 patients (17.6% of those eligible). The fact of being an intravenous drug abuser was associated with a higher probability of TST non-prescription (OR: 2.6, 95% CI 1.1-6.5), whereas being unemployed (OR: 0.6, 95% CI 0.3-1.0), having a CD4 cell count >200 (CD4 200-499: OR 0.5, 95% CI 0.3-0.9. CD4> or =500: OR 0.3, 95% CI 0.2-0.6), and contact with persons with TB (OR 0.2, 95% CI 0.1-0.5) were associated with a lower probability., Conclusions: In this study, the percentage of TST non-prescription was quite high. The results suggest that TST non-prescription in this population is related to the clinicians' expectations regarding the results of the test and the patients' adherence to treatment for latent TB infection., (Copyright 2008 Elsevier España, S.L. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.