31 results on '"Airo, P."'
Search Results
2. Association of the TNFAIP3 rs5029939 variant with systematic sclerosis in the European Caucasian population
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Dieude, P., Guedj, M., Wipff, J., Ruiz, B., Riemekasten, G., Matucci-Cerinic, M., Melchers, I., Hachulla, E., Airo, P., Diot, E., Hunzelmann, N., Cabane, J., Mouthon, L., Cracowski, J.L., Riccieri, V., Distler, J., Meyer, O., Kahan, A., Boileau, C., and Allanore, Y.
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Scleroderma (Disease) -- Genetic aspects ,Scleroderma (Disease) -- Risk factors ,Scleroderma (Disease) -- Research ,Systemic scleroderma -- Genetic aspects ,Systemic scleroderma -- Risk factors ,Systemic scleroderma -- Research ,Genetic susceptibility -- Research ,Tumor necrosis factor -- Genetic aspects ,Tumor necrosis factor -- Research ,Health - Published
- 2010
3. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
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Rueda, B., Gourh, P., Broen, J., Agarwal, S.K., Simeon, C., Ortego-Centeno, N., Vonk, M.C., Coenen, M., Riemekasten, G., Hunzelmann, N., Hesselstrand, R., Tan, F.K., Reveille, J.D., Assassi, S., Garcia-Hernandez, F.J., Carreira, P., Camps, M., Fernandez-Nebro, A., Garcia de la Pena, P., Nearney, T., Hilda, D., Gonzalez-Gay, M.A., Airo, P., Beretta, L., Scorza, R., Radstake, T.R.D.J., Mayes, M.D., Arnett, F.C., and Martin, J.
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Scleroderma (Disease) -- Genetic aspects ,Scleroderma (Disease) -- Risk factors ,Scleroderma (Disease) -- Research ,Systemic scleroderma -- Genetic aspects ,Systemic scleroderma -- Risk factors ,Systemic scleroderma -- Research ,B cells -- Genetic aspects ,B cells -- Research ,Cellular signal transduction -- Research ,Genetic variation -- Research ,Health - Published
- 2010
4. Lack of association between three vascular endothelial growth factor gene polymorphisms and systemic sclerosis: results from a multicenter EUSTAR study of European Caucasian patients
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Allanore, Y, Borderie, D, Airo, P, Guiducci, S, Czirják, L, Nasonov, E L, Riemekasten, G, Caramaschi, P, Majdan, M, Krasowska, D, Friedl, E, Lemarechal, H, Ananieva, L P, Nievskaya, T, Ekindjian, O G, Matucci-Cerinic, M, and Kahan, A
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- 2007
5. SURVIVAL ANALYSIS IN CONNECTIVE TISSUE DISEASES WITH INTERSTITIAL LUNG DISEASE COMPARED TO IDIOPATHIC PULMONARY FIBROSIS: MULTICENTRE ITALIAN STUDY.
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Fornaro, M., Cacciapaglia, F., Giotta, M., Zanframundo, G., Lazzaroni, M. G., Bartoletti, A., Pedretti, E., Sambataro, G., Orlandi, M., De Pace, C. C., Colella, S., Lacedonia, D., Vanchieri, C., Airo, P., Cavagna, L., Guiducci, S., and Iannone, F.
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- 2023
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6. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility
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Diaz-Gallo, L.M., Simeon, C.P., Broen, J.C.A., Ortego-Centeno, N., Beretta, L., Vonk, M.C., Carreira, P.E., Vargas, S., Roman-Ivorra, J.A., Gonzalez-Gay, M.A., Tolosa, C., Lopez-Longo, F.J., Espinosa, G., Vicente, E.F., Hesselstrand, R., Riemekasten, G., Witte, T. de, Distler, J.H., Voskuyl, A.E., Schuerwegh, A.J., Shiels, P.G., Nordin, A., Padyukov, L., Hoffmann-Vold, A.M., Scorza, R., Lunardi, C., Airo, P., Laar, J.M. van, Hunzelmann, N., Gathof, B.S., Kreuter, A., Herrick, A., Worthington, J., Denton, C.P., Zhou, X., Arnett, F.C., Fonseca, C., Koeleman, B.P., Assasi, S., Radstake, T.R.D.J., Mayes, M.D., Martin, J., Universitat de Barcelona, Rheumatology, and CCA - Immuno-pathogenesis
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Male ,Genotype ,systemic sclerosis ,Autoimmune diseases ,Immunology ,Locus (genetics) ,Single-nucleotide polymorphism ,Genome-wide association study ,Biology ,Polymorphism, Single Nucleotide ,Article ,White People ,General Biochemistry, Genetics and Molecular Biology ,GWAS ,IL-2/IL-21 region ,Gene Frequency ,Rheumatology ,Scleroderma, Limited ,Medizinische Fakultät ,Genetic variation ,Genetics ,Genetic predisposition ,Humans ,Immunology and Allergy ,Genetic Predisposition to Disease ,ddc:610 ,Allele ,Allele frequency ,Scleroderma, Systemic ,Malalties autoimmunitàries ,Interleukins ,Logistic Models ,Scleroderma (Disease) ,Case-Control Studies ,Scleroderma, Diffuse ,Interleukin-2 ,Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2] ,Female ,Gene polymorphism ,Esclerodèrmia ,Genètica - Abstract
ObjectiveThe interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc).Patients and methodsThe case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays.ResultsWe observed evidence of association of the rs6822844 and rs907715 variants with global SSc (pc=6.6E-4 and pc=7.2E-3, respectively). Similar statistically significant associations were observed for the limited cutaneous form of the disease. The conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs6822844 polymorphism. Consistently, the rs2069762A-rs6822844T-rs6835457G-rs907715T allelic combination showed evidence of association with SSc and limited cutaneous SSc subtype (pc=1.7E-03 and pc=8E-4, respectively).ConclusionsThese results suggested that the IL-2/IL-21 locus influences the genetic susceptibility to SSc. Moreover, this study provided further support for the IL-2/IL-21 locus as a common genetic factor in autoimmune diseases.
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- 2012
7. OP0055 Anti-RNA Polymerase III Antibodies in Patients with Systemic Sclerosis: A Eustar Multicenter Collaborative Study
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Lazzaroni, M.G., primary, Colombo, E., additional, Cavazzana, I., additional, Distler, O., additional, Hesselstrand, R., additional, Smith, V., additional, Caramaschi, P., additional, Hachulla, E., additional, Balbir-Gurman, A., additional, Romanowska-Pròchnicka, K., additional, Riccieri, V., additional, Allanore, Y., additional, and Airo', P., additional
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- 2015
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8. SAT0013 Candidate gene study in systemic sclerosis identifies a rare and functional variant of TNFAIP3 locus as a risk factor for individual polyautoimmunity
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Koumakis, E., primary, Giraud, M., additional, Dieudé, P., additional, Cuomo, G., additional, Airo, P., additional, Chiocchia, G., additional, and Allanore, Y., additional
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- 2013
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9. FRI0242 Watermelon stomach in systemic sclerosis: A EUSTAR case-control study
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Ghrenassia, E., primary, Avouac, J., additional, Derk, C., additional, Airo, P., additional, Khanna, D., additional, Berezne, A., additional, Tiev, K., additional, Ingegnoli, F., additional, Rosato, E., additional, Caramaschi, P., additional, Hesselstrand, R., additional, Riccieri, V., additional, Bae, S., additional, Steen, V., additional, and Allanore, Y., additional
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- 2013
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10. THU0012 TGFβ receptor polymorphisms in systemic sclerosis related pulmonary arterial hypertension: Results from a multicenter eustar study of european caucasian patients
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Koumakis, E., primary, Wipff, J., additional, Matucci-Cerinic, M., additional, Riemekasten, G., additional, Airo, P., additional, Cusi, D., additional, Wichmann, H.E., additional, Müller-Ladner, U., additional, Vlachoyiannopoulos, P., additional, Chiocchia, G., additional, and Allanore, Y., additional
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- 2013
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11. More on anticardiolipin and anti-[β.sub.2] glycoprotein I in systemic sclerosis
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Antonioli, CM, Danieli, E, Airo, P, Cattaneo, R, and Tincani, A
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Systemic scleroderma -- Care and treatment ,Anticardiolipin antibodies -- Physiological aspects ,Glycoproteins -- Physiological aspects ,Blood clot -- Care and treatment ,Scleroderma (Disease) -- Care and treatment ,Thrombosis -- Care and treatment ,Health ,Care and treatment ,Physiological aspects - Abstract
Patients with systemic sclerosis (SSc) may have arterial and venous thrombosis and, according to the limited and controversial data available, may have an increased incidence of pregnancy losses. (1) These [...]
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- 2003
12. Clinical prediction of 5-year survival in systemic sclerosis: validation of a simple prognostic model in EUSTAR centres
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Fransen, J, primary, Popa-Diaconu, D, additional, Hesselstrand, R, additional, Carreira, P, additional, Valentini, G, additional, Beretta, L, additional, Airo, P, additional, Inanc, M, additional, Ullman, S, additional, Balbir-Gurman, A, additional, Sierakowski, S, additional, Allanore, Y, additional, Czirjak, L, additional, Riccieri, V, additional, Giacomelli, R, additional, Gabrielli, A, additional, Riemekasten, G, additional, Matucci-Cerinic, M, additional, Farge, D, additional, Hunzelmann, N, additional, Van den Hoogen, F H J, additional, and Vonk, M C, additional
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- 2011
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13. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis
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Carmona, F. D., primary, Simeon, C. P., additional, Beretta, L., additional, Carreira, P., additional, Vonk, M. C., additional, Rios-Fernandez, R., additional, Espinosa, G., additional, Navarrete, N., additional, Vicente-Rabaneda, E., additional, Rodriguez-Rodriguez, L., additional, Tolosa, C., additional, Garcia-Hernandez, F. J., additional, Castellvi, I., additional, Egurbide, M. V., additional, Fonollosa, V., additional, Gonzalez-Gay, M. A., additional, Rodriguez-Carballeira, M., additional, Diaz-Gonzalez, F., additional, Saez-Comet, L., additional, Hesselstrand, R., additional, Riemekasten, G., additional, Witte, T., additional, Voskuyl, A. E., additional, Schuerwegh, A. J., additional, Madhok, R., additional, Shiels, P., additional, Fonseca, C., additional, Denton, C., additional, Nordin, A., additional, Palm, O., additional, Hoffmann-Vold, A.-M., additional, Airo, P., additional, Scorza, R., additional, Lunardi, C., additional, van Laar, J. M., additional, Hunzelmann, N., additional, Kreuter, A., additional, Herrick, A., additional, Worthington, J., additional, Koeleman, B. P. C., additional, Radstake, T. R. D. J., additional, and Martin, J., additional
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- 2011
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14. NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis
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Dieudé, P, primary, Guedj, M, additional, Wipff, J, additional, Ruiz, B, additional, Riemekasten, G, additional, Airo, P, additional, Melchers, I, additional, Hachulla, E, additional, Cerinic, M Matucci, additional, Diot, E, additional, Hunzelmann, N, additional, Caramaschi, P, additional, Sibilia, J, additional, Tiev, K, additional, Mouthon, L, additional, Riccieri, V, additional, Cracowski, J L, additional, Carpentier, P H, additional, Distler, J, additional, Amoura, Z, additional, Tarner, I, additional, Avouac, J, additional, Meyer, O, additional, Kahan, A, additional, Boileau, C, additional, and Allanore, Y, additional
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- 2010
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15. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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Diaz-Gallo, LM, primary, Gourh, P, additional, Broen, J, additional, Simeon, C, additional, Fonollosa, V, additional, Ortego-Centeno, N, additional, Agarwal, S, additional, Vonk, MC, additional, Coenen, M, additional, Riemekasten, G, additional, Hunzelmann, N, additional, Hesselstrand, R, additional, Tan, FK, additional, Reveille, JD, additional, Assassi, S, additional, García-Hernandez, FJ, additional, Carreira, P, additional, Camps, MT, additional, Fernandez-Nebro, A, additional, de la Peña, P Garcia, additional, Nearney, T, additional, Hilda, D, additional, González-Gay, MA, additional, Airo, P, additional, Beretta, L, additional, Scorza, R, additional, Herrick, A, additional, Worthington, J, additional, Pros, A, additional, Gómez-Gracia, I, additional, Trapiella, L, additional, Espinosa, G, additional, Castellvi, I, additional, Witte, T, additional, de Keyser, F, additional, Vanthuyne, M, additional, Mayes, MD, additional, Radstake, TRDJ, additional, Arnett, FC, additional, Martin, J, additional, and Rueda, B, additional
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- 2010
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16. Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database
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Tyndall, A. J., primary, Bannert, B., additional, Vonk, M., additional, Airo, P., additional, Cozzi, F., additional, Carreira, P. E., additional, Bancel, D. F., additional, Allanore, Y., additional, Muller-Ladner, U., additional, Distler, O., additional, Iannone, F., additional, Pellerito, R., additional, Pileckyte, M., additional, Miniati, I., additional, Ananieva, L., additional, Gurman, A. B., additional, Damjanov, N., additional, Mueller, A., additional, Valentini, G., additional, Riemekasten, G., additional, Tikly, M., additional, Hummers, L., additional, Henriques, M. J., additional, Caramaschi, P., additional, Scheja, A., additional, Rozman, B., additional, Ton, E., additional, Kumanovics, G., additional, Coleiro, B., additional, Feierl, E., additional, Szucs, G., additional, Von Muhlen, C. A., additional, Riccieri, V., additional, Novak, S., additional, Chizzolini, C., additional, Kotulska, A., additional, Denton, C., additional, Coelho, P. C., additional, Kotter, I., additional, Simsek, I., additional, de la Pena Lefebvre, P. G., additional, Hachulla, E., additional, Seibold, J. R., additional, Rednic, S., additional, Stork, J., additional, Morovic-Vergles, J., additional, and Walker, U. A., additional
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- 2010
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17. Anti-Th/To antibodies in Italian scleroderma patients: clinical and immunological correlations and comparison with patients with anti-centromere antibodies
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Ceribelli, A, primary, Cavazzana, I, additional, Airo, P, additional, Tincani, A, additional, Franceschini, F, additional, Pauley, B A, additional, Chan, E K L, additional, and Satoh, M, additional
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- 2010
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18. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
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Rueda, B., primary, Gourh, P., additional, Broen, J., additional, Agarwal, S. K., additional, Simeon, C., additional, Ortego-Centeno, N., additional, Vonk, M. C., additional, Coenen, M., additional, Riemekasten, G., additional, Hunzelmann, N., additional, Hesselstrand, R., additional, Tan, F. K., additional, Reveille, J. D., additional, Assassi, S., additional, Garcia-Hernandez, F. J., additional, Carreira, P., additional, Camps, M., additional, Fernandez-Nebro, A., additional, de la Pena, P. G., additional, Nearney, T., additional, Hilda, D., additional, Gonzalez-Gay, M. A., additional, Airo, P., additional, Beretta, L., additional, Scorza, R., additional, Radstake, T. R. D. J., additional, Mayes, M. D., additional, Arnett, F. C., additional, and Martin, J., additional
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- 2009
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19. Prevalence and factors associated with left ventricular dysfunction in the EULAR Scleroderma Trial and Research group (EUSTAR) database of patients with systemic sclerosis
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Allanore, Y, primary, Meune, C, additional, Vonk, M C, additional, Airo, P, additional, Hachulla, E, additional, Caramaschi, P, additional, Riemekasten, G, additional, Cozzi, F, additional, Beretta, L, additional, Derk, C T, additional, Komócsi, A, additional, Farge, D, additional, Balbir, A, additional, Riccieri, V, additional, Distler, O, additional, Chialà, A, additional, Papa, N Del, additional, Simic, K Pasalic, additional, Ghio, M, additional, Stamenkovic, B, additional, Rednic, S, additional, Host, N, additional, Pellerito, R, additional, Zegers, E, additional, Kahan, A, additional, Walker, U A, additional, and Matucci-Cerinic, M, additional
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- 2009
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20. Lack of association between three vascular endothelial growth factor gene polymorphisms and systemic sclerosis: results from a multicenter EUSTAR study of European Caucasian patients
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Allanore, Y, primary, Borderie, D, additional, Airo, P, additional, Guiducci, S, additional, Czirjak, L, additional, Nasonov, E L, additional, Riemekasten, G, additional, Caramaschi, P, additional, Majdan, M, additional, Krasowska, D, additional, Friedl, E, additional, Lemarechal, H, additional, Ananieva, L P, additional, Nievskaya, T, additional, Ekindjian, O G, additional, Matucci-Cerinic, M, additional, and Kahan, A, additional
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- 2006
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21. TGF[beta] receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.
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Koumakis E, Wipff J, Dieudé P, Ruiz B, Bouaziz M, Revillod L, Guedj M, Distler JH, Matucci-Cerinic M, Humbert M, Riemekasten G, Airo P, Melchers I, Hachulla E, Cusi D, Wichmann HE, Hunzelmann N, Tiev K, Caramaschi P, and Diot E
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- 2012
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22. NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.
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Dieudé, P, Guedj, M, Wipff, J, Ruiz, B, Riemekasten, G, Airo, P, Melchers, I, Hachulla, E, Cerinic, M Matucci, Diot, E, Hunzelmann, N, Caramaschi, P, Sibilia, J, Tiev, K, Mouthon, L, Riccieri, V, Cracowski, J L, Carpentier, P H, Distler, J, and Amoura, Z
- Abstract
Background Recent evidence has highlighted a potential role of interleukin 1β (IL-1β) in systemic sclerosis (SSc). NLRP1 provides a scaffold for the assembly of the inflammasome that promotes the processing and maturation of pro-IL-1β. In addition, variants were found to confer susceptibility to autoimmune disorders. Objective To study a possible association of the rs6502867, rs2670660 and rs8182352, rs12150220 and rs4790797 with SSc in the European Caucasian population. Methods single nucleotide polymorphisms were genotyped in 3227 individuals comprising a discovery set (870 SSc patients and 962 controls) and a replication set including individuals from Germany (532 SSc patients and 324 controls) and Italy (527 SSc patients and 301 controls), all individuals being of European Caucasian origin. Results Conditional analyses revealed a significant association for the rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively. Logistic regression analysis showed an additive effect of rs2004640, rs7574865 and rs8182352 risk alleles on SSc-related FA. Conclusions Our results establish as a new genetic susceptibility factor for SSc-related pulmonary fibrosis and anti-topoisomerase-positive SSc phenotypes. This provides new insights into the pathogenesis of SSc, underlining the potential role of innate immunity in particular in the FA-positive SSc subphenotype, which represents a severe subset of the disease. [ABSTRACT FROM PUBLISHER]
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- 2011
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23. Increased concentrations of soluble interleukin-2 receptor in the serum of patients with systemic sclerosis.
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Airo, P, primary, Bettinzioli, M, additional, Gorla, R, additional, and Cattaneo, R, additional
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- 1991
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24. Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression.
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Broen, J C A, Dieude, P, Vonk, M C, Beretta, L, Rueda, B, Herrick, A, Worthington, J, Hunzelmann, N, Riemekasten, G, Kiener, H, Scorza, R, Simeon, C P, Fonollosa, V, Carreira, P, Ortego-Centeno, N, Gonzalez-Gay, M A, Airo', P, Coenen, M J H, Aliprantis, A, and Martin, J
- Abstract
Aim Polymorphisms in the interleukin 4 (IL-4), IL-13 and their corresponding receptors have previously been found associated with systemic sclerosis (SSc). In this study the authors aim to validate these previous observations and scrutinise their effects on gene expression. Patients and methods The authors genotyped a cohort consisting of 2488 SSc patients and 2246 healthy controls, derived from The Netherlands, Spain, UK, Italy, Germany and France. Taqman assays were used for genotyping two single-nucleotide polymorphisms (SNPs) within (/rs1801275) and the (/rs2243250). In the gene two SNPs were genotyped (rs20541) and (rs1800925.) In the gene, the (rs6646259) variant was genotyped. In addition, the authors investigated the effect of these polymorphisms on corresponding gene expression with RT-PCR in B cells, T cells, plasmacytoid dendritic cells, monocytes and myeloid dendritic cells. Results None of these polymorphisms was found to be enriched in the SSc population or in any SSc clinical subtype and there was no influence of these polymorphisms on development of either pulmonary arterial hypertension and declineer of forced vital capacity in 15 years of follow-up. In addition, the authors did not observe an effect on expression levels in the cell subtypes. Conclusions This data show that these polymorphisms do not play a role in SSc and do not influence gene expression levels. [ABSTRACT FROM PUBLISHER]
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- 2011
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25. Revised European Scleroderma Trials and Research Group Activity Index is the best predictor of short-term severity accrual
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Elisabetta Zanatta, Gabriele Valentini, Jérôme Avouac, Ulrich A. Walker, Valeria Riccieri, Florenzo Iannone, Ellen De Langhe, Paola Caramaschi, Carina Mihai, Valentina Messiniti, Otylia Kowal-Bielecka, Edoardo Rosato, Jörg H W Distler, Alessandra Vacca, Yannick Allanore, Serena Fasano, Vanessa Smith, Antonella Riccardi, Britta Maurer, Oliver Distler, Elise Siegert, Paolo Airò, Paloma García de la Peña Lefebvre, Fasano, S., Riccardi, A., Messiniti, V., Caramaschi, P., Rosato, E., Maurer, B., Smith, V., Siegert, E., De Langhe, E., Riccieri, V., Airo, P., Mihai, C., Avouac, J., Zanatta, E., Walker, U. A., Iannone, F., De La Pena Lefebvre, P. G., Distler, J. H. W., Vacca, A., Distler, O., Kowal-Bielecka, O., Allanore, Y., Valentini, G., University of Zurich, and Kowal-Bielecka, Otylia
- Subjects
Male ,medicine.medical_specialty ,Index (economics) ,Multivariate analysis ,Time Factors ,Accrual ,systemic sclerosis ,2745 Rheumatology ,Immunology ,610 Medicine & health ,autoimmune disease ,Logistic regression ,Severity of Illness Index ,General Biochemistry, Genetics and Molecular Biology ,Scleroderma ,outcomes research ,Rheumatology ,1300 General Biochemistry, Genetics and Molecular Biology ,Predictive Value of Tests ,Internal medicine ,Immunology and Allergy ,Medicine ,Humans ,autoimmune diseases ,Prospective Studies ,2403 Immunology ,Clinical Trials as Topic ,Scleroderma, Systemic ,business.industry ,Vascular disease ,10051 Rheumatology Clinic and Institute of Physical Medicine ,Middle Aged ,medicine.disease ,Prognosis ,Europe ,2723 Immunology and Allergy ,Disease Progression ,Female ,Outcomes research ,Group activity ,business ,Follow-Up Studies - Abstract
BackgroundThe European Scleroderma Trials and Research Group (EUSTAR) recently developed a preliminarily revised activity index (AI) that performed better than the European Scleroderma Study Group Activity Index (EScSG-AI) in systemic sclerosis (SSc).ObjectiveTo assess the predictive value for short-term disease severity accrual of the EUSTAR-AI, as compared with those of the EScSG-AI and of known adverse prognostic factors.MethodsPatients with SSc from the EUSTAR database with a disease duration from the onset of the first non-Raynaud sign/symptom ≤5 years and a baseline visit between 2003 and 2014 were first extracted. To capture the disease activity variations over time, EUSTAR-AI and EScSG-AI adjusted means were calculated. The primary outcome was disease progression defined as a Δ≥1 in the Medsger’s severity score and in distinct items at the 2-year follow-up visit. Logistic regression analysis was carried out to identify predictive factors.Results549 patients were enrolled. At multivariate analysis, the EUSTAR-AI adjusted mean was the only predictor of any severity accrual and of that of lung and heart, skin and peripheral vascular disease over 2 years.ConclusionThe adjusted mean EUSTAR-AI has the best predictive value for disease progression and development of severe organ involvement over time in SSc.
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- 2019
26. A gender gap in primary and secondary heart dysfunctions in systemic sclerosis: a EUSTAR prospective study
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Antonio C. Zea Mendoza, Jean Sibilia, Kamal Solanki, Cristina Mihaela Tanaseanu, Fredrick M. Wigley, Guido Valesini, M. Govoni, Lisa K. Stamp, Christopher P. Denton, Yolanda Braun-Moscovici, Ruxandra Ionescu, Øyvind Midtvedt, Ileana Nicoara, Aleksandra Stanković, Rüdiger Hein, Alina Dumitrascu, Susanne Ullman, Alan Tyndall, Sergio A. Jimenez, Irena Butrimiene, Alan Doube, Eugene J. Kucharz, Mohammed Tikly, Pier Luigi Meroni, Simon Stebbings, Renata Sokolik, Alexandra Balbir Gurman, Roger Hesselstrand, Kirsten Damgaard, Francesco Paolo Cantatore, Razvan Ionitescu, Silvana Zeni, Marco Matucci-Cerinic, Maria Rosa Pozzi, Jacques-Eric Gottenberg, Srdan Novak, Ana Maria Gherghe, David Launay, Liliana Groppa, Carlomaurizio Montecucco, Roxana Sfrent Cornateanu, Stefan Heitmann, Paloma García de la Peña Lefebvre, Daniela Opris, Peter T. Chapman, Line V. Iversen, Bernard Coleiro, Ulf Müller-Ladner, John Highton, Mara Oleszowsky, Gabriella Szücs, Magdalena Kopec-Medrek, Carlos De La Puente Buijdos, Paola Caramaschi, Magdalena Szmyrka-Kaczmarek, Rucsandra Dobrota, Gabriele Valentini, Fabiana Montoya, Blaz Rozman, Alberto Sulli, Hélène Chifflot, Raffaella Scorza, Patricia Carreira, Paulius Venalis, Lisa Maria Bambara, Torhild Garen, Isabela Tiglea, Agneta Scheja, Duska Martinovic, Jörg H W Distler, Jörg Henes, Giovanni Lapadula, Luc Mouthon, Diana Karpec, Douglas J. Veale, Valeria Riccieri, Nicolas Hunzelmann, Muriel Elhai, Serena Guiducci, Codrina Ancuta, Simonetta Pisarri, Thierry Zenone, Esthela Loyo, Branimir Anić, Claudia Günther, R. Becvar, Eugen Russu, Serena Vettori, Carlo Chizzolini, Vanessa Smith, Mengtao Li, Stanislaw Sierakowsky, Carmel Mallia, Małgorzata Widuchowska, Carolina de Souza Müller, László Czirják, Algirdas Venalis, Adrian Hij, Marta Valero Exposito, Simona Rednic, Miroslav Mayer, Laura Groseanu, Walter Alberto Sifuentes Giraldo, Murray Baron, Dominique Farge, Anna Kotulska, Marko Baresic, Svetlana Agachi, Martin Aringer, Merete Engelhart, John L. O'Donnell, Jérôme Avouac, Filip De Keyser, Ulrich A. Walker, Roberto Caporali, Harald Burkhardt, P. G. Vlachoyiannopoulos, Maurizio Cutolo, Frank A. Wollheim, Edoardo Rosato, Suzanne Kafaja, Valderílio Feijó Azevedo, Kilian Eyerich, Paolo Airò, Emmanuel Chatelus, L. Ananieva, Ira Litinsky, Andrea Lo Monaco, Vanesa Cosentino, Rita Rugiene, Eric Hachulla, P. Saar, Bojana Stamenkovic, Brigitte Krummel-Lorenz, Yannick Allanore, Elisabeth Knott, Oliver Distler, Matthias Seidel, Silvia Rodriguez Rubio, Franco Cozzi, Mihai Bojinca, Nemanja Damjanov, Maria João Salvador, Joanna Busquets, Otylia Kowal Bielecka, André Kahan, Jacek Szechiński, Daniel E. Furst, C. Mihai, Rodica Chirieac, Ewa Morgiel, Georg Schett, Armando Gabrielli, Giovanna Cuomo, Piotr Wiland, Maya N. Starovoytova, Sebastião Cezar Radominski, Gitte Strauss, Lealea Chiaburu, Florenzo Iannone, Carol M. Black, Andrea Himsel, Eduardo Kerzberg, Cecília Varjú, Vera Ortiz Santamaria, Gabriela Riemekasten, Dorota Krasowska, Marilena Gorga, Monica Popescu, Marie O'Rourke, Henrik Nielsen, Raffaele Pellerito, Ada Corrado, Elhai, M, Avouac, J, Walker, Ua, Matucci Cerinic, M, Riemekasten, G, Airò, P, Hachulla, E, Valentini, Gabriele, Carreira, Pe, Cozzi, F, Balbir Gurman, A, Braun Moscovici, Y, Damjanov, N, Ananieva, Lp, Scorza, R, Jimenez, S, Busquets, J, Li, M, Müller Ladner, U, Kahan, A, Distler, O, Allanore, Y, EUSTAR co, Author, EUSTAR co, Authors, Matucci-Cerinic, M, Airo, P, Valentini, G, Gurman, Ab, Braun-Moscovici, Y, Mt, Li, Muller-Ladner, U, Allanore, Y EUSTAR co-authors: Serena Guiducci, Alan, Tyndall, Giovanni, Lapadula, Florenzo, Iannone, Radim, Becvar, Stanislaw, Sierakowsky, Otylia Kowal Bielecka, Maurizio, Cutolo, Alberto, Sulli, Cuomo, Giovanna, Vettori, Serena, Simona, Rednic, Ileana, Nicoara, Vlachoyiannopoulos, P, Montecucco, C, Roberto, Caporali, Srdan, Novak, László, Czirják, Cecilia, Varju, Carlo, Chizzolini, Eugene, J Kucharz, Anna, Kotulska, Magdalena, Kopec-Medrek, Malgorzata, Widuchowska, Blaz, Rozman, Carmel, Mallia, Bernard, Coleiro, Armando, Gabrielli, Dominique, Farge, Adrian, Hij, Roger, Hesselstrand, Agneta, Scheja, Frank, Wollheim, Duska, Martinovic, Govoni, M, Andrea Lo Monaco, Nicolas, Hunzelmann, Raffaele, Pellerito, Lisa Maria Bambara, Paola, Caramaschi, Carol, Black, Christopher, Denton, Jörg, Hene, Vera Ortiz Santamaria, Stefan, Heitmann, Dorota, Krasowska, Matthias, Seidel, Mara, Oleszowsky, Harald, Burkhardt, Andrea, Himsel, Maria, J Salvador, Bojana, Stamenkovic, Aleksandra, Stankovic, Mohammed, Tikly, Maya, N Starovoytova, Merete, Engelhart, Gitte, Strau, Henrik, Nielsen, Kirsten, Damgaard, Gabriella, Szüc, Antonio Zea Mendoza, Carlos de la Puente Buijdos, Walter, A Sifuentes Giraldo, Øyvind, Midtvedt, Torhild, Garen, David, Launay, Guido, Valesini, Valeria, Riccieri, Ruxandra Maria Ionescu, Daniela, Opri, Laura, Groseanu, Fredrick, M Wigley, Carmen, M Mihai, Roxana Sfrent Cornateanu, Razvan, Ionitescu, Ana Maria Gherghe, Marilena, Gorga, Rucsandra, Dobrota, Mihai, Bojinca, Georg, Schett, Jörg Hw Distler, Pierluigi, Meroni, Silvana, Zeni, Luc, Mouthon, Filip De Keyser, Vanessa, Smith, Francesco, P Cantatore, Ada, Corrado, Susanne, Ullman, Line, Iversen, Maria, R Pozzi, Kilian, Eyerich, Rüdiger, Hein, Elisabeth, Knott, Jacek, Szechinski, Piotr, Wiland, Magdalena, Szmyrka-Kaczmarek, Renata, Sokolik, Ewa, Morgiel, Brigitte, Krummel-Lorenz, Petra, Saar, Martin, Aringer, Claudia, Günther, Branimir, Anic, Marko, Baresic, Miroslav, Mayer, Sebastião, C Radominski, Carolina de Souza Müller, Valderílio, F Azevedo, Svetlana, Agachi, Liliana, Groppa, Lealea, Chiaburu, Eugen, Russu, Thierry, Zenone, Simon, Stebbing, John, Highton, Lisa, Stamp, Peter, Chapman, Murray, Baron, John, O'Donnell, Kamal, Solanki, Alan, Doube, Douglas, Veale, Marie, O'Rourke, Esthela, Loyo, Edoardo, Rosato, Simonetta, Pisarri, Cristina-Mihaela, Tanaseanu, Monica, Popescu, Alina, Dumitrascu, Isabela, Tiglea, Rodica, Chirieac, Codrina, Ancuta, Daniel, E Furst, Suzanne, Kafaja, Paloma García de la Peña Lefebvre, Silvia Rodriguez Rubio, Marta Valero Exposito, Jean, Sibilia, Emmanuel, Chatelu, Jacques Eric Gottenberg, Hélène, Chifflot, Ira, Litinsky, Algirdas, Venali, Irena, Butrimiene, Paulius, Venali, Rita, Rugiene, Diana, Karpec, Eduardo, Kerzberg, Fabiana, Montoya, Vanesa, Cosentino, and Chizzolini, Carlo
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0301 basic medicine ,Male ,heart dysfunction ,Databases, Factual ,Epidemiology ,autoimmune diseases ,epidemiology ,systemic sclerosis ,Kaplan-Meier Estimate ,0302 clinical medicine ,Cardiovascular Disease ,Immunology and Allergy ,Prospective Studies ,Age of Onset ,skin and connective tissue diseases ,Prospective cohort study ,ddc:616 ,Orvostudományok ,Middle Aged ,Prognosis ,Connective tissue disease ,3. Good health ,Europe ,Cardiovascular Diseases ,Cohort ,Disease Progression ,Female ,Autoimmune Diseases ,Systemic Sclerosis ,Human ,Adult ,medicine.medical_specialty ,Prognosi ,Immunology ,Socio-culturale ,Klinikai orvostudományok ,Autoimmune Disease ,General Biochemistry, Genetics and Molecular Biology ,Follow-Up Studie ,03 medical and health sciences ,Sex Factors ,Rheumatology ,Internal medicine ,medicine ,Humans ,Sex Distribution ,Systemic Sclerosi ,Aged ,030203 arthritis & rheumatology ,Lupus erythematosus ,Scleroderma, Systemic ,business.industry ,medicine.disease ,Pulmonary hypertension ,Prospective Studie ,030104 developmental biology ,Heart failure ,Age of onset ,business ,Follow-Up Studies - Abstract
OBJECTIVES: In agreement with other autoimmune diseases, systemic sclerosis (SSc) is associated with a strong sex bias. However, unlike lupus, the effects of sex on disease phenotype and prognosis are poorly known. Therefore, we aimed to determine sex effects on outcomes. METHOD: We performed a prospective observational study using the latest 2013 data extract from the EULAR scleroderma trials and research (EUSTAR) cohort. We looked at (i) sex influence on disease characteristics at baseline and (ii) then focused on patients with at least 2 years of follow-up to estimate the effects of sex on disease progression and survival. RESULTS: 9182 patients with SSc were available (1321 men) for the baseline analyses. In multivariate analysis, male sex was independently associated with a higher risk of diffuse cutaneous subtype (OR: 1.68, (1.45 to 1.94); p
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- 2014
27. TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients
- Author
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Gilles Chiocchia, Marco Matucci-Cerinic, Otylia Kowal-Bielecka, Jean-Luc Cracowski, Ulrich A. Walker, Julien Wipff, Jörg H W Distler, Matthieu Bouaziz, László Czirják, Inga Melchers, Nicolas Hunzelmann, Elisabeth Diot, Daniele Cusi, Catherine Boileau, Sara Lupoli, Philippe Dieudé, Marc Humbert, Yannick Allanore, Giovanna Cuomo, H.-Erich Wichmann, G. Riemekasten, Ulf Müller-Ladner, Eric Hachulla, P. G. Vlachoyiannopoulos, Paola Caramaschi, Costanza Conti, Paolo Airò, Martina Müller-Nurasyid, Barbara Ruiz, Mickaël Guedj, Valeria Riccieri, Lucile Revillod, Franco Cozzi, Nemanja Damjanov, Vasiliki Kalliopi Bournia, Eugénie Koumakis, Kiet Tiev, Université Paris Descartes - Paris 5 (UPD5), Université Paris Diderot - Paris 7 (UPD7), Université d'Évry-Val-d'Essonne (UEVE), Laboratoire Statistique et Génome (SG), Institut National de la Recherche Agronomique (INRA)-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Université Paris-Sud - Paris 11 (UP11), Hôpital Antoine Béclère, Assistance Publique - Hôpitaux de Paris (AP-HP), Centre Chirurgical Marie Lannelongue (CCML), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Leibniz Association, Spedali Civil Brescia, University of Freiburg [Freiburg], Université de Lille, Droit et Santé, Università degli Studi di Milano [Milano] (UNIMI), Fdn Filarete, Partenaires INRAE, European League Against Rheumatism Scleroderma Trials and Research group (EUSTAR), Association des Sclerodermiques de France, INSERM, Agence Nationale pour la Recherche [R07094KS], Pfizer, Koumakis, E, Wipff, J, Dieudé, P, Ruiz, B, Bouaziz, M, Revillod, L, Guedj, M, Distler, Jh, Matucci Cerinic, M, Humbert, M, Riemekasten, G, Airo, P, Melchers, I, Hachulla, E, Cusi, D, Wichmann, He, Hunzelmann, N, Tiev, K, Caramaschi, P, Diot, E, Kowal Bielecka, O, Cuomo, Giovanna, Walker, U, Czirják, L, Damjanov, N, Lupoli, S, Conti, C, Müller Nurasyid, M, Müller Ladner, U, Riccieri, V, Cracowski, Jl, Cozzi, F, Bournia, Vk, Vlachoyiannopoulos, P, Chiocchia, G, Boileau, C, Allanore, Y., Università degli Studi di Firenze = University of Florence (UniFI), and Università degli Studi di Milano = University of Milan (UNIMI)
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Genetics and Molecular Biology (all) ,Male ,Systemic disease ,Candidate gene ,DNA Mutational Analysis ,Biochemistry ,DISEASE ,Scleroderma ,0302 clinical medicine ,Medizinische Fakultät ,Transforming Growth Factor beta ,Receptors ,Immunology and Allergy ,Familial Primary Pulmonary Hypertension ,[MATH]Mathematics [math] ,skin and connective tissue diseases ,0303 health sciences ,biology ,integumentary system ,arterial pulmonary hypertension ,Pulmonary ,Single Nucleotide ,ASSOCIATION ,Connective tissue disease ,3. Good health ,Hypertension ,Female ,systemic sclerosi ,Genotype ,Hypertension, Pulmonary ,European Continental Ancestry Group ,Immunology ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,White People ,03 medical and health sciences ,Rheumatology ,medicine ,SNP ,Humans ,[INFO]Computer Science [cs] ,Genetic Predisposition to Disease ,ddc:610 ,Polymorphism ,HEREDITARY HEMORRHAGIC TELANGIECTASIA ,Genotyping ,ALK-1 ,030304 developmental biology ,030203 arthritis & rheumatology ,Scleroderma, Systemic ,business.industry ,MUTATIONS ,Systemic ,Receptors, Transforming Growth Factor beta ,Biochemistry, Genetics and Molecular Biology (all) ,Transforming growth factor beta ,medicine.disease ,Pulmonary hypertension ,BMPR2 ,biology.protein ,business - Abstract
IntroductionSystemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH.ObjectiveTo explore the genetic bases of SSc–PAH, we combined direct sequencing and genotyping of candidate genes encoding TGFβ receptor family members.Materials and methodsTGFβ receptor genes, BMPR2, ALK1, TGFR2 and ENG, were sequenced in 10 SSc–PAH patients, nine SSc and seven controls. In addition, 22 single-nucleotide polymorphisms (SNP) of these four candidate genes were tested for association in a first set of 824 French Caucasian SSc patients (including 54 SSc–PAH) and 939 controls. The replication set consisted of 1516 European SSc (including 219 SSc–PAH) and 3129 controls from the European League Against Rheumatism Scleroderma Trials and Research group network.ResultsNo mutation was identified by direct sequencing. However, two repertoried SNP, ENG rs35400405 and ALK1 rs2277382, were found in SSc–PAH patients only. The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc–PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65). Nevertheless, this was not replicated with the following result in combined analysis: p=0.123, OR 0.79, 95% CI 0.59 to 1.07.ConclusionsThis study demonstrates the lack of association between these TGFβ receptor gene polymorphisms and SSc–PAH using both sequencing and genotyping methods.
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- 2012
28. Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.
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Terao C, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M, Kawaguchi Y, Matucci-Cerinic M, Ohmura K, Riemekasten G, Kawasaki A, Airo P, Horita T, Oka A, Hachulla E, Yoshifuji H, Caramaschi P, Hunzelmann N, Baron M, Atsumi T, Hassoun P, Torii T, Takahashi M, Tabara Y, Shimizu M, Tochimoto A, Ayuzawa N, Yanagida H, Furukawa H, Tohma S, Hasegawa M, Fujimoto M, Ishikawa O, Yamamoto T, Goto D, Asano Y, Jinnin M, Endo H, Takahashi H, Takehara K, Sato S, Ihn H, Raychaudhuri S, Liao K, Gregersen P, Tsuchiya N, Riccieri V, Melchers I, Valentini G, Cauvet A, Martinez M, Mimori T, Matsuda F, and Allanore Y
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- Case-Control Studies, Europe epidemiology, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA Antigens genetics, Humans, Japan epidemiology, Polymorphism, Single Nucleotide, Positive Regulatory Domain I-Binding Factor 1, Scleroderma, Systemic ethnology, Neoplasm Proteins genetics, Repressor Proteins genetics, Scleroderma, Systemic genetics
- Abstract
Objectives: Systemic sclerosis (SSc) is an autoimmune disease characterised by skin and systemic fibrosis culminating in organ damage. Previous genetic studies including genome-wide association studies (GWAS) have identified 12 susceptibility loci satisfying genome-wide significance. Transethnic meta-analyses have successfully expanded the list of susceptibility genes and deepened biological insights for other autoimmune diseases., Methods: We performed transethnic meta-analysis of GWAS in the Japanese and European populations, followed by a two-staged replication study comprising a total of 4436 cases and 14 751 controls. Associations between significant single nuclear polymorphisms (SNPs) and neighbouring genes were evaluated. Enrichment analysis of H3K4Me3, a representative histone mark for active promoter was conducted with an expanded list of SSc susceptibility genes., Results: We identified two significant SNP in two loci, GSDMA and PRDM1 , both of which are related to immune functions and associated with other autoimmune diseases (p=1.4×10
-10 and 6.6×10-10 , respectively). GSDMA also showed a significant association with limited cutaneous SSc. We also replicated the associations of previously reported loci including a non-GWAS locus, TNFAIP3. PRDM1 encodes BLIMP1, a transcription factor regulating T-cell proliferation and plasma cell differentiation. The top SNP in GSDMA was a missense variant and correlated with gene expression of neighbouring genes, and this could explain the association in this locus. We found different human leukocyte antigen (HLA) association patterns between the two populations. Enrichment analysis suggested the importance of CD4-naïve primary T cell., Conclusions: GSDMA and PRDM1 are associated with SSc. These findings provide enhanced insight into the genetic and biological basis of SSc., Competing Interests: Competing interests: None declared., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)- Published
- 2017
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29. Outcomes of patients with systemic sclerosis-associated polyarthritis and myopathy treated with tocilizumab or abatacept: a EUSTAR observational study.
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Elhai M, Meunier M, Matucci-Cerinic M, Maurer B, Riemekasten G, Leturcq T, Pellerito R, Von Mühlen CA, Vacca A, Airo P, Bartoli F, Fiori G, Bokarewa M, Riccieri V, Becker M, Avouac J, Müller-Ladner U, Distler O, and Allanore Y
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- Abatacept, Adult, Arthritis etiology, Female, Humans, Male, Middle Aged, Muscular Diseases etiology, Prospective Studies, Treatment Outcome, Antibodies, Monoclonal, Humanized therapeutic use, Antirheumatic Agents therapeutic use, Arthritis drug therapy, Immunoconjugates therapeutic use, Muscular Diseases drug therapy, Scleroderma, Systemic complications
- Abstract
Objective: To evaluate the safety and effectiveness of tocilizumab and abatacept in systemic sclerosis (SSc)-polyarthritis or SSc-myopathy., Methods: 20 patients with SSc with refractory polyarthritis and seven with refractory myopathy from the EUSTAR (EULAR Scleroderma Trials and Research) network were included: 15 patients received tocilizumab and 12 patients abatacept. All patients with SSc-myopathy received abatacept. Clinical and biological assessments were made at the start of treatment and at the last infusion., Results: After 5 months, tocilizumab induced a significant improvement in the 28-joint count Disease Activity Score and its components, with 10/15 patients achieving a EULAR good response. Treatment was stopped in two patients because of inefficacy. After 11 months' treatment of patients with abatacept, joint parameters improved significantly, with 6/11 patients fulfilling EULAR good-response criteria. Abatacept did not improve muscle outcome measures in SSc-myopathy. No significant change was seen for skin or lung fibrosis in the different groups. Both treatments were well tolerated., Conclusions: In this observational study, tocilizumab and abatacept appeared to be safe and effective on joints, in patients with refractory SSc. No trend for any change of fibrotic lesions was seen but this may relate to the exposure time and inclusion criteria. Larger studies with longer follow-up are warranted to further determine the safety and effectiveness of these drugs in SSc.
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- 2013
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30. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility.
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Diaz-Gallo LM, Simeon CP, Broen JC, Ortego-Centeno N, Beretta L, Vonk MC, Carreira PE, Vargas S, Román-Ivorra JA, González-Gay MA, Tolosa C, López-Longo FJ, Espinosa G, Vicente EF, Hesselstrand R, Riemekasten G, Witte T, Distler JH, Voskuyl AE, Schuerwegh AJ, Shiels PG, Nordin A, Padyukov L, Hoffmann-Vold AM, Scorza R, Lunardi C, Airo P, van Laar JM, Hunzelmann N, Gathof BS, Kreuter A, Herrick A, Worthington J, Denton CP, Zhou X, Arnett FC, Fonseca C, Koeleman BP, Assasi S, Radstake TR, Mayes MD, and Martín J
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- Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Logistic Models, Male, Polymorphism, Single Nucleotide, Scleroderma, Diffuse ethnology, Scleroderma, Diffuse genetics, Scleroderma, Limited ethnology, Scleroderma, Limited genetics, Scleroderma, Systemic ethnology, White People genetics, Interleukin-2 genetics, Interleukins genetics, Scleroderma, Systemic genetics
- Abstract
Objective: The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc)., Patients and Methods: The case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays., Results: We observed evidence of association of the rs6822844 and rs907715 variants with global SSc (pc=6.6E-4 and pc=7.2E-3, respectively). Similar statistically significant associations were observed for the limited cutaneous form of the disease. The conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs6822844 polymorphism. Consistently, the rs2069762A-rs6822844T-rs6835457G-rs907715T allelic combination showed evidence of association with SSc and limited cutaneous SSc subtype (pc=1.7E-03 and pc=8E-4, respectively)., Conclusions: These results suggested that the IL-2/IL-21 locus influences the genetic susceptibility to SSc. Moreover, this study provided further support for the IL-2/IL-21 locus as a common genetic factor in autoimmune diseases.
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- 2013
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31. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.
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Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes MD, Radstake TR, Arnett FC, Martin J, and Rueda B
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- Autoantibodies blood, Case-Control Studies, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Scleroderma, Systemic immunology, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 22 genetics, Scleroderma, Systemic genetics
- Abstract
Objective: Two functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity. The aim of this study was to investigate the role of the R263Q SNP for the first time and to re-evaluate the role of the R620W SNP in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotypes., Methods: 3422 SSc patients (2020 with limited cutaneous SSc and 1208 with diffuse cutaneous SSc) and 3638 healthy controls of Caucasian ancestry from an initial case--control set of Spain and seven additional independent replication cohorts were included in our study. Both rs33996649 and rs2476601 PTPN22 polymorphisms were genotyped by TaqMan allelic discrimination assay. A meta-analysis was performed to test the overall effect of these PTPN22 polymorphisms in SSc., Results: The meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (p(FDRcorrected)=0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28). In addition, the rs2476601 T allele was significantly associated with anticentromere-positive status (p(FDRcorrected)=0.02 pooled, OR 1.22, 95% CI 1.05 to 1.42). Although the rs33996649 A allele was significantly associated with SSc in the Spanish population (p(FDRcorrected)=0.04, OR 0.58, 95% CI 0.36 to 0.92), this association was not confirmed in the meta-analysis (p=0.36 pooled, OR 0.89, 95% CI 0.72 to 1.1)., Conclusion: The study suggests that the PTPN22 R620W polymorphism influences SSc genetic susceptibility but the novel R263Q genetic variant does not. These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases.
- Published
- 2011
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