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3. Iloprost use and medical management of systemic sclerosis-related vasculopathy in Italian tertiary referral centers: results from the PROSIT study

Author

Negrini, Simone, Magnani, Ottavia, Matucci-Cerinic, Marco, Carignola, Renato, Data, Valeria, Montabone, Erika, Santaniello, Alessandro, Adorni, Giuditta, Murdaca, Giuseppe, Puppo, Francesco, Indiveri, Francesco, Della Rossa, Alessandra, D’Ascanio, Anna, Barsotti, Simone, Giuggioli, Dilia, Ferri, Clodoveo, Lumetti, Federica, Bosello, Silvia Laura, Canestrari, Giovanni, Bellando Randone, Silvia, Bruni, Cosimo, Guiducci, Serena, Battaglia, Elisabetta, De Andres, Maria Ilenia, Russo, Alessandra Azzurra, and Beretta, Lorenzo

Published
2019
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6. Clinical spectrum time course in non-Asian patients positive for anti-MDA5 antibodies

Author

Cavagna, Lorenzo, primary, Meloni, Federica, additional, Meyer, Alain, additional, Sambataro, Gianluca, additional, Belliato, Mirko, additional, De Langhe, Ellen, additional, Cavazzana, Ilaria, additional, Pipitone, Nicolò, additional, Triantafyllias, Konstantinos, additional, Mosca, Marta, additional, Barsotti, Simone, additional, Zampogna, Giuseppe, additional, Biglia, Alessandro, additional, Emmi, Giacomo, additional, De Visser, Marianne, additional, Van Der Kooi, Anneke, additional, Parronchi, Paola, additional, Hirschi, Sandrine, additional, da Silva, Jose Antonio Pereira, additional, Scirè, Carlo Alberto, additional, Furini, Federica, additional, Giannini, Margherita, additional, Martinez Gonzalez, Olga, additional, Damian, Laura, additional, Piette, Yves, additional, Smith, Vanessa, additional, Mera-Valera, Antonio, additional, Bachiller-Corral, Javier, additional, Cabezas Rodriguez, Ivan, additional, Brandy-Garcia, Anahy M., additional, Maurier, François, additional, Perrin, Julie, additional, Gonzalez-Moreno, Juan, additional, Drott, Ulrich, additional, Delbruck, Christiane, additional, Schwarting, Andreas, additional, Arrigoni, Eugenio, additional, Sebastiani, Gian Domenico, additional, Iuliano, Annamaria, additional, Nannini, Carlotta, additional, Quartuccio, Luca, additional, Rodriguez Cambron, Ana B., additional, Blázquez Cañamero, Maria Á., additional, Villa Blanco, Ignacio, additional, Cagnotto, Giovanni, additional, Pesci, Alberto, additional, Luppi, Francesco, additional, Dei, Giulia, additional, Romero Bueno, Fredeswinda Isabel, additional, Franceschini, Franco, additional, Chiapparoli, Ilaria, additional, Zanframundo, Giovanni, additional, Lettieri, Sara, additional, De Stefano, Ludovico, additional, Cutolo, Maurizio, additional, Mathieu, Alessandro, additional, Piga, Matteo, additional, Prieto-González, Sergio, additional, Moraes-Fontes, Maria Francisca, additional, Fonseca, Joao Eurico, additional, Jovani, Vega, additional, Riccieri, Valeria, additional, Santaniello, Alessandro, additional, Montfort, Stephen, additional, Bilocca, David, additional, Erre, Gian Luca, additional, Bartoloni, Elena, additional, Gerli, Roberto, additional, Monti, M. Cristina, additional, Lorenz, Hanns M., additional, Sambataro, Domenico, additional, Bellando Randone, Silvia, additional, Schneider, Udo, additional, Valenzuela, Claudia, additional, Lopez-Mejias, Raquel, additional, Cifrian, Jose, additional, Mejia, Mayra, additional, Gonzalez Perez, Monserrat-Ixchel, additional, Wendel, Sarah, additional, Fornaro, Marco, additional, De Luca, Giacomo, additional, Orsolini, Giovanni, additional, Rossini, Maurizio, additional, Dieude, Philippe, additional, Knitza, Johannes, additional, Castañeda, Santos, additional, Voll, Reinhard E., additional, Rojas-Serrano, Jorge, additional, Valentini, Adele, additional, Vancheri, Carlo, additional, Matucci-Cerinic, Marco, additional, Feist, Eugen, additional, Codullo, Veronica, additional, Iannone, Florenzo, additional, Distler, Jorg H., additional, Montecucco, Carlomaurizio, additional, and Gonzalez-Gay, Miguel A., additional

Published
2022
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8. Identification of IL12RB1 as a Novel Systemic Sclerosis Susceptibility Locus

Author

López-Isac, Elena, Bossini-Castillo, Lara, Guerra, Sandra G., Denton, Christopher, Fonseca, Carmen, Assassi, Shervin, Zhou, Xiaodong, Mayes, Maureen D., Simeón, Carmen Pilar, Ortego-Centeno, Norberto, Castellví, Iván, Carreira, Patricia, Gorlova, Olga, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Hesselstrand, Roger, Nordin, Annika, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg H. W., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Koeleman, Bobby P., Herrick, Ariane, Worthington, Jane, Radstake, Timothy R. D. J., and Martin, Javier

Published
2014
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12. 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

13. Successful pregnancies but a higher risk of preterm births in patients with systemic sclerosis: An Italian multicenter study

Author

Taraborelli, Mara, Ramoni, Véronique, Brucato, Antonio, Airò, Paolo, Bajocchi, Gianluigi, Bellisai, Francesca, Biasi, Domenico, Blagojevic, Jelena, Canti, Valentina, Caporali, Roberto, Caramaschi, Paola, Chiarolanza, Ilaria, Codullo, Veronica, Cozzi, Franco, Cuomo, Giovanna, Cutolo, Maurizio, De Santis, Maria, De Vita, Salvatore, Di Poi, Emma, Doria, Andrea, Faggioli, Paola, Favaro, Maria, Ferraccioli, Gianfranco, Ferri, Clodoveo, Foti, Rosario, Gerosa, Alessandro, Gerosa, Maria, Giacuzzo, Sarah, Giani, Leopoldo, Giuggioli, Dilia, Imazio, Massimo, Iudici, Michele, Iuliano, Annamaria, Leonardi, Roberto, Limonta, Massimiliano, Lojacono, Andrea, Lubatti, Chiara, Matucci-Cerinic, Marco, Mazzone, Antonino, Meroni, Marianna, Meroni, Pier Luigi, Mosca, Marta, Motta, Mario, Muscarà, Marina, Nava, Simona, Padovan, Melissa, Pagani, Giorgio, Paolazzi, Giuseppe, Peccatori, Susanna, Ravagnani, Viviana, Riccieri, Valeria, Rosato, Edoardo, Rovere-Querini, Patrizia, Salsano, Felice, Santaniello, Alessandro, Scorza, Raffaella, Tani, Chiara, Valentini, Gabriele, Valesini, Guido, Vanoli, Massimo, Vigone, Barbara, Zeni, Silvana, and Tincani, Angela

Published
2012
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18. Microbial and metabolic multi-omic correlations in systemic sclerosis patients

Author

Bellocchi, Chiara, Fernández-Ochoa, Alvaro, Montanelli, Gaia, Vigone, Barbara, Santaniello, Alessandro, Milani, Christian, Quirantes-PIné, Rosa, Borrás-Linares, Isabel, Ventura, Marco, Segura-Carrettero, Antonio, Alarcón-Riquelme, Marta Eugenia, Beretta, Lorenzo, Pers, J.O., Department of Analytical Chemistry, Granada, University of Granada [Granada], Lab Probiogen, Dept Life Sci, University of Parma = Università degli studi di Parma [Parme, Italie], Referral Center for Systemic Autoimmune Diseases, University of Milan, CIC Brest, and Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche

Subjects
[SDV]Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2018

20. Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data

Author

Beretta Lorenzo, Santaniello Alessandro, van Riel Piet LCM, Coenen Marieke JH, and Scorza Raffaella

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract

Abstract Background Epistasis is recognized as a fundamental part of the genetic architecture of individuals. Several computational approaches have been developed to model gene-gene interactions in case-control studies, however, none of them is suitable for time-dependent analysis. Herein we introduce the Survival Dimensionality Reduction (SDR) algorithm, a non-parametric method specifically designed to detect epistasis in lifetime datasets. Results The algorithm requires neither specification about the underlying survival distribution nor about the underlying interaction model and proved satisfactorily powerful to detect a set of causative genes in synthetic epistatic lifetime datasets with a limited number of samples and high degree of right-censorship (up to 70%). The SDR method was then applied to a series of 386 Dutch patients with active rheumatoid arthritis that were treated with anti-TNF biological agents. Among a set of 39 candidate genes, none of which showed a detectable marginal effect on anti-TNF responses, the SDR algorithm did find that the rs1801274 SNP in the FcγRIIa gene and the rs10954213 SNP in the IRF5 gene non-linearly interact to predict clinical remission after anti-TNF biologicals. Conclusions Simulation studies and application in a real-world setting support the capability of the SDR algorithm to model epistatic interactions in candidate-genes studies in presence of right-censored data. Availability: http://sourceforge.net/projects/sdrproject/

Published
2010
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22. Cardiopulmonary exercise testing in a combined screening approach to individuate pulmonary arterial hypertension in systemic sclerosis.

Author

Santaniello, Alessandro, Casella, Rosa, Vicenzi, Marco, Rota, Irene, Montanelli, Gaia, Santis, Maria De, Bellocchi, Chiara, Lombardi, Federico, and Beretta, Lorenzo

Subjects
*PULMONARY hypertension diagnosis, *ALGORITHMS, *CARDIOPULMONARY system, *EXERCISE tests, *MEDICAL screening, *PULMONARY hypertension, *RISK assessment, *SYSTEMIC scleroderma, *EARLY diagnosis, *DESCRIPTIVE statistics, *DISEASE complications
Abstract

Objectives The DETECT algorithm has been developed to identify SSc patients at risk for pulmonary arterial hypertension (PAH) yielding high sensitivity but low specificity, and positive predictive value. We tested whether cardiopulmonary exercise testing (CPET) could improve the performance of the DETECT screening strategy. Methods Consecutive SSc patients over a 30-month period were screened with the DETECT algorithm and positive subjects were referred for CPET before the execution of right-heart catheterization. The predictive performance of CPET on top of DETECT was evaluated and internally validated via bootstrap replicates. Results Out of 314 patients, 96 satisfied the DETECT application criteria and 54 were positive. PAH was ascertained in 17 (31.5%) and pre-capillary pulmonary hypertension in 23 (42.6%) patients. Within CPET variables, the slope of the minute ventilation to carbon dioxide production relationship (VE/VCO2 slope) had the best performance to predict PAH at right-heart catheterization [median (interquartile range) of specificity 0.778 (0.714–0.846), positive predictive value 0.636 (0.556–0.750)]; exploratory analysis on pre-capillary yielded a specificity of 0.714 (0.636–0.8) and positive predictive value of 0.714 (0.636–0.8). Conclusion In association with the DETECT algorithm, CPET may be considered as a useful tool in the workup of SSc-related pulmonary hypertension. The sequential determination of the VE/VCO2 slope in DETECT-positive subjects may reduce the number of unnecessary invasive procedures without any loss in the capability to capture PAH. This strategy had also a remarkable performance in highlighting the presence of pre-capillary pulmonary hypertension. [ABSTRACT FROM AUTHOR]

Published
2020
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23. An MIF promoter polymorphism is associated with susceptibility to pulmonary arterial hypertension in diffuse cutaneous systemic sclerosis

Author

Bossini-Castillo, Lara, Campillo-Davo, Diana, Lopez-Isac, Elena, Carmona, Francisco David, Simeon, Carmen P., Carreira, Patricia, Callejas-Rubio, Jose Luis, Castellvi, Ivan, Fernandez-Nebro, Antonio, Rodriguez-Rodriguez, Luis, Rubio-Rivas, Manel, Garcia-Hernandez, Francisco J., Madronero, Ana Belen, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Airo, Paolo, Hoffmann-Vold, Anna-Maria, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul, Herrick, Ariane, Worthington, Jane, Radstake, Timothy R.D.J., Martin, Javier, Spanish Scleroderma Group, Bossini-Castillo, Lara, Campillo-Davo, Diana, Lopez-Isac, Elena, Carmona, Francisco David, Simeon, Carmen P., Carreira, Patricia, Callejas-Rubio, Jose Luis, Castellvi, Ivan, Fernandez-Nebro, Antonio, Rodriguez-Rodriguez, Luis, Rubio-Rivas, Manel, Garcia-Hernandez, Francisco J., Madronero, Ana Belen, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Airo, Paolo, Hoffmann-Vold, Anna-Maria, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul, Herrick, Ariane, Worthington, Jane, Radstake, Timothy R.D.J., Martin, Javier, and Spanish Scleroderma Group

Published
2017

24. An MIF promoter polymorphism is associated with susceptibility to pulmonary arterial hypertension in diffuse cutaneous systemic sclerosis

Author

UMC Utrecht, Translationele immunologie, Infection & Immunity, Bossini-Castillo, Lara, Campillo-Davo, Diana, Lopez-Isac, Elena, Carmona, Francisco David, Simeon, Carmen P., Carreira, Patricia, Callejas-Rubio, Jose Luis, Castellvi, Ivan, Fernandez-Nebro, Antonio, Rodriguez-Rodriguez, Luis, Rubio-Rivas, Manel, Garcia-Hernandez, Francisco J., Madronero, Ana Belen, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Airo, Paolo, Hoffmann-Vold, Anna-Maria, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul, Herrick, Ariane, Worthington, Jane, Radstake, Timothy R.D.J., Martin, Javier, Spanish Scleroderma Group, UMC Utrecht, Translationele immunologie, Infection & Immunity, Bossini-Castillo, Lara, Campillo-Davo, Diana, Lopez-Isac, Elena, Carmona, Francisco David, Simeon, Carmen P., Carreira, Patricia, Callejas-Rubio, Jose Luis, Castellvi, Ivan, Fernandez-Nebro, Antonio, Rodriguez-Rodriguez, Luis, Rubio-Rivas, Manel, Garcia-Hernandez, Francisco J., Madronero, Ana Belen, Beretta, Lorenzo, Santaniello, Alessandro, Lunardi, Claudio, Airo, Paolo, Hoffmann-Vold, Anna-Maria, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul, Herrick, Ariane, Worthington, Jane, Radstake, Timothy R.D.J., Martin, Javier, and Spanish Scleroderma Group

Published
2017

25. An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis

Author

Martín, J. [0000-0002-2202-0622], Bossini-Castillo, L., Campillo-Davó, D., López-Isac, Elena, Carmona, F.D., Simeón, Carmen P., Carreira, P., Callejas-Rubio, J. L., Castellví, I., Fernández-Nebro, Antonio, Rodríguez-Rodríguez, Luis, Rubio-Rivas, M., García-Hernández, Francisco José, Madroñero, A.B., Beretta, L., Santaniello, Alessandro, Lunardi, C., Airó, Paolo, Hoffmann-Vold, A. M., Kreuter, A., Riemekasten, G., Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul G., Herrick, A., Worthington, J., Radstake, T. R., Martín, J., Spanish Scleroderma Group, Martín, J. [0000-0002-2202-0622], Bossini-Castillo, L., Campillo-Davó, D., López-Isac, Elena, Carmona, F.D., Simeón, Carmen P., Carreira, P., Callejas-Rubio, J. L., Castellví, I., Fernández-Nebro, Antonio, Rodríguez-Rodríguez, Luis, Rubio-Rivas, M., García-Hernández, Francisco José, Madroñero, A.B., Beretta, L., Santaniello, Alessandro, Lunardi, C., Airó, Paolo, Hoffmann-Vold, A. M., Kreuter, A., Riemekasten, G., Witte, Torsten, Hunzelmann, Nicolas, Vonk, Madelon C., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Shiels, Paul G., Herrick, A., Worthington, J., Radstake, T. R., Martín, J., and Spanish Scleroderma Group

Abstract

OBJECTIVE: Systemic sclerosis (SSc) is a fibrotic immune-mediated disease of unknown etiology. Among its clinical manifestations, pulmonary involvement is the leading cause of mortality in patients with SSc. However, the genetic factors involved in lung complication are not well defined. We aimed to review the association of the MIF gene, which encodes a cytokine implicated in idiopathic pulmonary hypertension among other diseases, with the susceptibility and clinical expression of SSc, in addition to testing the association of this polymorphism with SSc-related pulmonary involvement. METHODS: A total of 4392 patients with SSc and 16,591 unaffected controls from 6 cohorts of European origin were genotyped for the MIF promoter variant rs755622. An inverse variance method was used to metaanalyze the data. RESULTS: A statistically significant increase of the MIF rs755622*C allele frequency compared with controls was observed in the subgroups of patients with diffuse cutaneous SSc (dcSSc) and with pulmonary arterial hypertension (PAH) independently (dcSSc: p = 3.20E-2, OR 1.13; PAH: p = 2.19E-02, OR 1.32). However, our data revealed a stronger effect size with the subset of patients with SSc showing both clinical manifestations (dcSSc with PAH: p = 6.91E-3, OR 2.05). CONCLUSION: We reviewed the association of the MIF rs755622*C allele with SSc and described a phenotype-specific association of this variant with the susceptibility to develop PAH in patients with dcSSc.

Published
2017

26. 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

Lopez-Isac, Elena, Martin, J.E., Assassi, S., Simeón, Carmen P., Carreira, P., Ortego-Centeno, N., Freire, María del Carmen, Beltran, E., Narváez, J., Alegre-Sancho, Juan-José, Fernández-Gutiérrez, B., Balsa, Alejandro, Ortiz, Ana María, González-Gay, M. A., Beretta, L., Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, C., Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, J. H., Riekemasten, Gabriella, van der Helm-Van Mil, Annette H. M., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Oyvind, Merriman, Tony, Hesselstrand, R., Nordin, A., Padyukov, Leonid, Herrick, A., Eyre, Steve, Koeleman, B. P., Denton, C., Fonseca, C., Radstake, T. R., Worthington, J., Mayes, M. D., Martín, J., Junta de Andalucía, Ministerio de Economía y Competitividad (España), Ministerio de Educación, Cultura y Deporte (España), European Commission, Dutch Association for Institutional Research, Dutch Arthritis Foundation, National Institutes of Health (US), National Institute of Allergy and Infectious Diseases (US), National Center for Research Resources (US), National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Department of Defense (US), Martín, J., Rheumatology, AII - Inflammatory diseases, and Martín, J. [0000-0002-2202-0622]

Subjects
stomatognathic diseases, integumentary system, skin and connective tissue diseases, hormones, hormone substitutes, and hormone antagonists
Abstract

Autoría conjunta: Spanish Scleroderma Grp, 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, Supported by a grant from the Ministerio de Educacion, Cultura y Deporte through the program FPU (to Dr. Lopez-Isac), grant 115565 from the EU/EFPIA Innovative Medicines Initiative Joint Undertaking PRECISESADS (ref. no. 115565) and BIO-1395 from the Junta de Andalucia, grant PI-0590-2010 from the Consejeria de Salud y Bienestar Social, Junta de Andalucia, Spain (to Dr. Ortego-Centeno), a VIDI laureate from the Dutch Association of Research and Dutch Arthritis Foundation (to Dr. Radstake), and grant SAF2012-34435 from the Spanish Ministry of Economy and Competitiveness (to Dr. J. Martin). Dr. Assassi's work was supported by grants KL2-RR-024149-04 and K23-AR-061436 from the NIH, grant 3-UL1-RR-024148 from the NIH National Center for Research Resources, and grant U01-1U01AI09090 from the NIH National Institute of Allergy and Infectious Diseases. Dr. Mayes' work was supported by grant P50-AR-054144 from the NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Centers of Research Translation, grant N01-AR-0-2251 from the NIAMS SSc Family Registry and DNA Repository, grant PR-1206877 from the Department of Defense, and grant R01-AR-055258 from the NIAMS.

Published
2016

27. Cross-disease Meta-analysis of Genome-wide Association Studies for Systemic Sclerosis and Rheumatoid Arthritis Reveals IRF4 as a New Common Susceptibility Locus

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 HW, Riekemasten, Gabriella, van der Helm-van Mil, Annete 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 PC, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy RDJ, Worthington, Jane, Mayes, Maureen D, and Martín, Javier

Subjects
Arthritis, Rheumatoid, Scleroderma, Systemic, Genetic Loci, Risk Factors, Interferon Regulatory Factors, Humans, Genetic Predisposition to Disease, Article, Genome-Wide Association Study
Abstract

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.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.This cross-disease meta-analysis of the GWAS data sets identified several loci with nominal association signals (P 5 × 10(-6) ) that also showed evidence of association in the disease-specific GWAS scans. These loci included several genomic regions not previously reported as shared loci, as well as several risk factors that were previously found to be associated with both diseases. Follow-up analyses of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these 2 diseases (Pcombined = 3.29 × 10(-12) ). Analysis of the biologic relevance of the known SSc-RA shared loci identified the type I interferon and interleukin-12 signaling pathways as the main common etiologic factors.This study identified a novel shared locus, IRF4, for the risk of SSc and RA, and highlighted the usefulness of a cross-disease GWAS meta-analysis strategy in the identification of common risk loci.

Published
2016

28. 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

29. Cross-disease Meta-analysis of Genome-wide Association Studies for Systemic Sclerosis and Rheumatoid Arthritis Reveals IRF4 as a New Common Susceptibility Locus

Author

López Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón Aznar, Carmen Pilar, Carreira, Patricia, Ortego Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre Sancho, Juan J., Spanish Scleroderma Group, Fernández Gutiérrez, Benjamín, Balsa Criado, Alejandro, Ortiz, Ana M., González-Gay Mantecón, Miguel Ángel, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, and Universidad de Cantabria

Subjects
skin and connective tissue diseases
Abstract

Objectives: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that share clinical and immunological characteristics. To date, several shared SSc- RA loci have been identified independently. In this study, we aimed to systematically search for new common SSc-RA loci through an inter-disease meta-GWAS strategy. Methods: We performed a meta-analysis combining GWAS datasets of SSc and RA using a strategy that allowed identification of loci with both same-direction and opposingdirection allelic effects. The top single-nucleotide polymorphisms (SNPs) were followed-up in independent SSc and RA case-control cohorts. This allowed us to increase the sample size to a total of 8,830 SSc patients, 16,870 RA patients and 43,393 controls. Results: The cross-disease meta-analysis of the GWAS datasets identified several loci with nominal association signals (P-value < 5 x 10-6), which also showed evidence of association in the disease-specific GWAS scan. These loci included several genomic regions not previously reported as shared loci, besides risk factors associated with both diseases in previous studies. The follow-up of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these two diseases (Pcombined = 3.29 x 10-12). In addition, the analysis of the biological relevance of the known SSc-RA shared loci pointed to the type I interferon and the interleukin 12 signaling pathways as the main common etiopathogenic factors. Conclusions: Our study has identified a novel shared locus, IRF4, for SSc and RA and highlighted the usefulness of cross-disease GWAS meta-analysis in the identification of common risk loci.

Published
2016

30. Preliminary safety and efficacy profile of prucalopride in the treatment of systemic sclerosis (SSc)-related intestinal involvement: results from the open label cross-over PROGASS study

Author

Vigone, Barbara, primary, Caronni, Monica, additional, Severino, Adriana, additional, Bellocchi, Chiara, additional, Baldassarri, Anna Rita, additional, Fraquelli, Mirella, additional, Montanelli, Gaia, additional, Santaniello, Alessandro, additional, and Beretta, Lorenzo, additional

Published
2017
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32. Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway

Author

López Isac, Elena, Campillo Davo, Diana, Bossini Castillo, Lara, Guerra, Sandra G., Assassi, Shervin, Simeón Aznar, Carmen Pilar, Carreira, Patricia, Ortego Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemestaken, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg H.V., Voskuyl, Alexandre E., Vries-Bouwstra, Jeska de, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R.D.J., Mayes, Maureen D., Martín, Javier, Spanish Scleroderma Study Group (SSSG), Espinosa Garriga, Gerard, Rheumatology, AII - Inflammatory diseases, and Universitat de Barcelona

Subjects
0301 basic medicine, Autoimmune diseases, Genome-wide association study, Logistic regression, Genètica mèdica, Human genetics, Medizinische Fakultät, Citoquines, Immunology and Allergy, Missense mutation, Genètica humana, Malalties autoimmunitàries, Medical genetics, Interleukin-12, Connective tissue disease, Cytokines, Signal Transduction, Immunology, Mutation, Missense, Locus (genetics), Systemic Sclerosis, Genetic polymorphisms, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Rheumatology, Gene Polymorphism, Journal Article, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, TYK2 Kinase, Scleroderma, Systemic, business.industry, Polimorfisme genètic, Case-control study, medicine.disease, Treatment, 030104 developmental biology, Case-Control Studies, Gene polymorphism, business, Genome-Wide Association Study, Meta-Analysis
Abstract

OBJECTIVES: TYK2 is a common genetic risk factor for several autoimmune diseases. This gene encodes a protein kinase involved in interleukin 12 (IL-12) pathway, which is a well-known player in the pathogenesis of systemic sclerosis (SSc). Therefore, we aimed to assess the possible role of this locus in SSc. METHODS: This study comprised a total of 7103 patients with SSc and 12 220 healthy controls of European ancestry from Spain, USA, Germany, the Netherlands, Italy and the UK. Four TYK2 single-nucleotide polymorphisms (V362F (rs2304256), P1104A (rs34536443), I684S (rs12720356) and A928V (rs35018800)) were selected for follow-up based on the results of an Immunochip screening phase of the locus. Association and dependence analyses were performed by the means of logistic regression and conditional logistic regression. Meta-analyses were performed using the inverse variance method. RESULTS: Genome-wide significance level was reached for TYK2 V362F common variant in our pooled analysis ( p=3.08×10(−13), OR=0.83), while the association of P1104A, A928V and I684S rare and low-frequency missense variants remained significant with nominal signals ( p=2.28×10(−3), OR=0.80; p=1.27×10(−3), OR=0.59; p=2.63×10(−5), OR=0.83, respectively). Interestingly, dependence and allelic combination analyses showed that the strong association observed for V362F with SSc, corresponded to a synthetic association dependent on the effect of the three previously mentioned TYK2 missense variants. CONCLUSIONS: We report for the first time the association of TYK2 with SSc and reinforce the relevance of the IL-12 pathway in SSc pathophysiology.

Published
2015

33. Influence of TYK2 in systemic sclerosis susceptibility : a new locus in the IL-12 pathway

Author

López-Isac, Elena, Campillo-Davo, Diana, Bossini-Castillo, Lara, Guerra, Sandra G, Assassi, Shervin, Simeón, Carmen Pilar, Carreira, Patricia, Ortego-Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg Hw, Voskuyl, Alexandre E, de Vries-Bouwstra, Jeska, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy Rdj, Mayes, Maureen D, Martín, Javier, Spanish Scleroderma Group, López-Isac, Elena, Campillo-Davo, Diana, Bossini-Castillo, Lara, Guerra, Sandra G, Assassi, Shervin, Simeón, Carmen Pilar, Carreira, Patricia, Ortego-Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg Hw, Voskuyl, Alexandre E, de Vries-Bouwstra, Jeska, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy Rdj, Mayes, Maureen D, Martín, Javier, and Spanish Scleroderma Group

Published
2016

35. Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway

Author

Translationele immunologie, Infection & Immunity, López-Isac, Elena, Campillo-Davo, Diana, Bossini-Castillo, Lara, Guerra, Sandra G, Assassi, Shervin, Simeón, Carmen Pilar, Carreira, Patricia, Ortego-Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg Hw, Voskuyl, Alexandre E, de Vries-Bouwstra, Jeska, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy Rdj, Mayes, Maureen D, Martín, Javier, Spanish Scleroderma Group, Translationele immunologie, Infection & Immunity, López-Isac, Elena, Campillo-Davo, Diana, Bossini-Castillo, Lara, Guerra, Sandra G, Assassi, Shervin, Simeón, Carmen Pilar, Carreira, Patricia, Ortego-Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg Hw, Voskuyl, Alexandre E, de Vries-Bouwstra, Jeska, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy Rdj, Mayes, Maureen D, Martín, Javier, and Spanish Scleroderma Group

Published
2016

36. 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

37. Serum levels of vascular dysfunction markers reflect disease severity and stage in systemic sclerosis patients

Author

Translationele immunologie, Infection & Immunity, Cossu, Marta, Andracco, Romina, Santaniello, Alessandro, Marchini, Maurizio, Severino, Adriana, Caronni, Monica, Radstake, Timothy, Beretta, Lorenzo, Translationele immunologie, Infection & Immunity, Cossu, Marta, Andracco, Romina, Santaniello, Alessandro, Marchini, Maurizio, Severino, Adriana, Caronni, Monica, Radstake, Timothy, and Beretta, Lorenzo

Published
2016

38. The magnitude of cytokine production by stimulated CD56+ cells is associated with early stages of systemic sclerosis

Author

Translationele immunologie, Infection & Immunity, CTI Lab support, Cossu, Marta, van Bon, L., Nierkens, S, Bellocchi, Chiara, Santaniello, Alessandro, Dolstra, H., Beretta, Lorenzo, Radstake, TRDJ, Translationele immunologie, Infection & Immunity, CTI Lab support, Cossu, Marta, van Bon, L., Nierkens, S, Bellocchi, Chiara, Santaniello, Alessandro, Dolstra, H., Beretta, Lorenzo, and Radstake, TRDJ

Published
2016

39. 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

Junta de Andalucía, Ministerio de Economía y Competitividad (España), Ministerio de Educación, Cultura y Deporte (España), European Commission, Dutch Association for Institutional Research, Dutch Arthritis Foundation, National Institutes of Health (US), National Institute of Allergy and Infectious Diseases (US), National Center for Research Resources (US), National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Department of Defense (US), Martín, J. [0000-0002-2202-0622], López-Isac, Elena, Martin, J. E., Assassi, S., Simeón, Carmen P., Carreira, P., Ortego-Centeno, N., Freire, María del Carmen, Beltrán, E., Narváez, Javier, Alegre-Sancho, Juan-José, Fernández-Gutiérrez, B., Balsa, Alejandro, Ortiz, Ana María, González-Gay, M. A., Beretta, L., Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, C., Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, J. H., Riekemasten, Gabriella, van der Helm-Van Mil, Annette H. M., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Oyvind, Merriman, Tony, Hesselstrand, R., Nordin, A., Padyukov, Leonid, Herrick, A., Eyre, Steve, Koeleman, B. P., Denton, C., Fonseca, C., Radstake, T. R., Worthington, J., Mayes, Maureen D., Martín, J., Junta de Andalucía, Ministerio de Economía y Competitividad (España), Ministerio de Educación, Cultura y Deporte (España), European Commission, Dutch Association for Institutional Research, Dutch Arthritis Foundation, National Institutes of Health (US), National Institute of Allergy and Infectious Diseases (US), National Center for Research Resources (US), National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Department of Defense (US), Martín, J. [0000-0002-2202-0622], López-Isac, Elena, Martin, J. E., Assassi, S., Simeón, Carmen P., Carreira, P., Ortego-Centeno, N., Freire, María del Carmen, Beltrán, E., Narváez, Javier, Alegre-Sancho, Juan-José, Fernández-Gutiérrez, B., Balsa, Alejandro, Ortiz, Ana María, González-Gay, M. A., Beretta, L., Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, C., Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, J. H., Riekemasten, Gabriella, van der Helm-Van Mil, Annette H. M., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Oyvind, Merriman, Tony, Hesselstrand, R., Nordin, A., Padyukov, Leonid, Herrick, A., Eyre, Steve, Koeleman, B. P., Denton, C., Fonseca, C., Radstake, T. R., Worthington, J., Mayes, Maureen D., and Martín, J.

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<5 x 10(-6)) that also showed evidence of association in the disease-specific GWAS scans. These loci included several genomic regions not previously reported as shared loci, as well as several risk factors that were previously found to be associated with both diseases. Follow-up analyses of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these 2 diseases (P-combined=3.29 x 10(-12)). Analysis of the biologic relevance of the known SSc-RA shared loci identified the type I interferon and interleukin-12 signaling pathways as the main common etiologic factors. Conclusion. This study identified a novel shared locus, IRF4, for the risk of SSc and RA, and highlighted the usefulness of a cross-disease GWAS meta-analysis strategy in the identification of common risk loci.

Published
2016

40. A genome wide association study follow-up suggests a possible role of PPARG in systemic esclerosis susceptiblity

Author

López Isac, Elena, Bossini Castillo, Lara, Simeón Aznar, Carmen Pilar, Egurbide Arberas, María Victoria, Alegre-Sancho, Juan José, Callejas Rubio, José Luis, Román-Ivorra, José Andrés, Freire, Mayka, Beretta, Lorenzo, Santaniello, Alessandro, Airó, Paolo, Lunardi, Claudio, Hunzelmann, Nicolas, Riemestaken, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Jörg H.V., Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Shiels, Paul G., van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher P., Herrick, Ariane L., Worthington, Jane, Assassi, Shervin, Koeleman, Bobby P. C., Mayes, Maureen D., Radstake, Timothy R.D.J., Martín, Javier, Espinosa Garriga, Gerard, Spanish Scleroderma Study Group (SSSG), Narváez García, Francisco Javier, Universidad de Cantabria, Rheumatology, CCA - Disease profiling, Sociedad Española de Reumatología, Ministerio de Economía y Competitividad (España), Junta de Andalucía, European League Against Rheumatism, Ministerio de Educación, Cultura y Deporte (España), Netherlands Organization for Scientific Research, Dutch Arthritis Foundation, National Institutes of Health (US), National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Congressionally Directed Medical Research Programs (US), and Universitat de Barcelona

Subjects
Adult, Male, Peroxisome proliferator-activated receptor gamma, Genotype, Autoimmune diseases, Immunology, Genome-wide association study, Single-nucleotide polymorphism, Bioinformatics, Genoma humà, Polymorphism, Single Nucleotide, PPARG gene, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, GWAS, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Genotyping, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Scleroderma, Systemic, Malalties autoimmunitàries, Human genome, business.industry, Middle Aged, 3. Good health, SNP genotyping, PPAR gamma, Scleroderma (Disease), SYSTEMIC SCLEROSIS, Cohort, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Female, SNPs, Esclerodèrmia, business, Genome-Wide Association Study, Research Article, Cohort study
Abstract

[Introduction] A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy., [Methods] Sixty-six non-HLA SNPs showing a P value, [Results] We observed nominal associations for both PPARG rs310746 (P MH = 1.90 × 10-6, OR, 1.28) and CHRNA9 rs6832151 (P MH = 4.30 × 10-6, OR, 1.17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0.066; OR, 1.17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (P MH = 5.00 × 10-7; OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis., [Conclusion] Our results suggest a role of PPARG gene in the development of SSc., This work was supported by the following grants: JM was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 and SAF2012-34435 from the Spanish Ministry of Economy and Competitiveness, CTS-4977, and CTS-180 from Junta de Andalucía, and is sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). This study was also funded by PI-0590-2010, from Consejería de Salud y Bienestar Social, Junta de Andalucía, Spain. JLCR and JM are funded by Consejería de Salud, Junta de Andalucía, through PI-0590-2010. ELI was supported by Ministerio de Educación, Cultura y Deporte through the program FPU. TRDJR was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). TW was granted by DFG WI 1031/6.1. Study on USA samples were supported by US National Institutes of Health and National Institute of Arthritis and Musculoskeletal Diseases (NIH-NIAMS) R01-AR-055258, Two-Stage Genome Wide Association Study in Systemic Sclerosis (MDM) and by the NIH-NIAMS Center of Research Translation (CORT) in SSc (P50AR054144) (MDM, FCA, FKT), the NIH-NIAMS SSc Family Registry and DNA Repository (N01-AR-0-2251) (MDM), NIH-KL2RR024149 (SA), K23AR061436 (SA), and the Department of Defense Congressionally Directed Medical Research Programs (W81XWH-07-01-0111) (MDM).

Published
2014

43. TYK2 and Systemic Sclerosis Susceptibility: a New Associated Locus in the IL-12 Pathway

Author

Lopez-Isac, Elena, Bossini-Castillo, Lara, Guerra, Sandra G., Assassi, Shervin, Simeon, Carmen P., Carreira, Patricia E., Ortego-Centeno, Norberto, de la Pena, Paloma Garcia, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jorg H. W., Voskuyl, Alexandre E., de Vries-Bouwstra, J. K., Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Fonseca, Carmen, Radstake, T. R. D. J., Mayes, Maureen D., Martin, Javier, Lopez-Isac, Elena, Bossini-Castillo, Lara, Guerra, Sandra G., Assassi, Shervin, Simeon, Carmen P., Carreira, Patricia E., Ortego-Centeno, Norberto, de la Pena, Paloma Garcia, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jorg H. W., Voskuyl, Alexandre E., de Vries-Bouwstra, J. K., Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Fonseca, Carmen, Radstake, T. R. D. J., Mayes, Maureen D., and Martin, Javier

Published
2015

44. Reply to J. Magalon et al.

Author

Del Papa, Nicoletta, primary, Di Luca, Gabriele, additional, Sambataro, Domenico, additional, Zaccara, Eleonora, additional, Maglione, Wanda, additional, Gabrielli, Armando, additional, Fraticelli, Paolo, additional, Moroncini, Gianluca, additional, Beretta, Lorenzo, additional, Santaniello, Alessandro, additional, Sambataro, Gianluca, additional, Ferraresi, Roberto, additional, and Vitali, Claudio, additional

Published
2015
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45. Regional Implantation of Autologous Adipose Tissue-Derived Cells Induces a Prompt Healing of Long-Lasting Indolent Digital Ulcers in Patients with Systemic Sclerosis

Author

Del Papa, Nicoletta, primary, Di Luca, Gabriele, additional, Sambataro, Domenico, additional, Zaccara, Eleonora, additional, Maglione, Wanda, additional, Gabrielli, Armando, additional, Fraticelli, Paolo, additional, Moroncini, Gianluca, additional, Beretta, Lorenzo, additional, Santaniello, Alessandro, additional, Sambataro, Gianluca, additional, Ferraresi, Roberto, additional, and Vitali, Claudio, additional

Published
2015
Full Text
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46. A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility

Author

Lopez-Isac, Elena, Bossini-Castillo, Lara, Simeon, Carmen P., Victoria Egurbide, Maria, Jose Alegre-Sancho, Juan, Luis Callejas, Jose, Andres Roman-Ivorra, Jose, Freire, Mayka, Beretta, Lorenzo, Santaniello, Alessandro, Airo, Paolo, Lunardi, Claudio, Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Joerg H. W., Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Shiels, Paul G., van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher, Herrick, Ariane, Worthington, Jane, Assassi, Shervin, Koeleman, Bobby P., Mayes, Maureen D., Radstake, Timothy R. D. J., Martin, Javier, Lopez-Isac, Elena, Bossini-Castillo, Lara, Simeon, Carmen P., Victoria Egurbide, Maria, Jose Alegre-Sancho, Juan, Luis Callejas, Jose, Andres Roman-Ivorra, Jose, Freire, Mayka, Beretta, Lorenzo, Santaniello, Alessandro, Airo, Paolo, Lunardi, Claudio, Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Joerg H. W., Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Shiels, Paul G., van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher, Herrick, Ariane, Worthington, Jane, Assassi, Shervin, Koeleman, Bobby P., Mayes, Maureen D., Radstake, Timothy R. D. J., and Martin, Javier

Abstract

Introduction: A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy. Methods: Sixty-six non-HLA SNPs showing a P value < 10(-4) in the discovery phase of the French SSc GWAS were analyzed in the first step of this study, performing a meta-analysis that combined data from the two published SSc GWASs. A total of 2,921 SSc patients and 6,963 healthy controls were included in this first phase. Two SNPs, PPARG rs310746 and CHRNA9 rs6832151, were selected for genotyping in the replication cohort (1,068 SSc patients and 6,762 healthy controls) based on the results of the first step. Genotyping was performed by using TaqMan SNP genotyping assays. Results: We observed nominal associations for both PPARG rs310746 (P-MH = 1.90 x 10(-6), OR, 1.28) and CHRNA9 rs6832151 (P-MH = 4.30 x 10(-6), OR, 1.17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0.066; OR, 1.17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (P-MH = 5.00 x 10(-7); OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis. Conclusion: Our results suggest a role of PPARG gene in the development of SSc.

Published
2014

47. 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

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