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2. POS0235 NEW ONSET OF INTERSTITIAL LUNG DISEASE IN SYSTEMIC SCLEROSIS: CLINICAL COURSE AND OUTCOMES FROM A EUSTAR DATABASE ANALYSIS

Author

Bruni, C., primary, Petelytska, L., additional, Velauthapillai, A., additional, Tofani, L., additional, Carreira, P., additional, Cuomo, G., additional, Hachulla, E., additional, Castellví, I., additional, Bečvář, R., additional, Balbir-Gurman, A., additional, Airò, P., additional, Litinsky, I., additional, Saketkoo, L. A., additional, De Vries-Bouwstra, J. K., additional, Vonk, M., additional, Hoffmann-Vold, A. M., additional, Matucci-Cerinic, M., additional, and Distler, O., additional

Published
2024
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3. POS0230 CHARACTERISTICS AND DISEASE COURSE OF SSc-ILD PATIENTS WITH GASTROESOPHAGEAL REFLUX – AN ANALYSIS OF THE EUSTAR COHORT

Author

Roth, E., primary, Bruni, C., additional, Petelytska, L., additional, Carreira, P., additional, De Vries-Bouwstra, J. K., additional, Balbir-Gurman, A., additional, Liakouli, V., additional, Moroncini, G., additional, Bergmann, C., additional, Mouthon, L., additional, Denton, C. P., additional, De Santis, M., additional, Cauli, A., additional, Hasler, P., additional, Bernardino, V., additional, Truchetet, M. E., additional, Vonk, M., additional, Del Galdo, F., additional, Hoffmann-Vold, A. M., additional, Distler, O., additional, and Elhai, M., additional

Published
2024
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4. OP0133 INVESTIGATING THE GENETIC BACKGROUND OF THE SEX DIMORPHISM IN SYSTEMIC SCLEROSIS

Author

Rodriguez-Martin, I., primary, Kerick, M., additional, Rosa-Baez, C., additional, Borrego-Yaniz, G., additional, Ortiz-Fernández, L., additional, Guillen-Del-Castillo, A., additional, Simeón-Aznar, C. P., additional, Callejas, J. L., additional, Assassi, S., additional, Ssc Group, I., additional, Proudman, S. M., additional, Nikpour, M., additional, Interest Group (Asig), A. S., additional, Hunzelmann, N., additional, Moroncini, G., additional, De Vries-Bouwstra, J. K., additional, Orozco, G., additional, Barton, A., additional, Herrick, A. L., additional, Allanore, Y., additional, Fonseca, C., additional, Beretta, L., additional, Denton, C. P., additional, Mayes, M. D., additional, Martin, J., additional, and Acosta-Herrera, M., additional

Published
2024
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8. OP0013 ANTI-Ro/SSA ANTIBODIES ARE PREDICTIVE OF A MORE SEVERE LUNG INVOLVEMENT IN PATIENTS WITH SYSTEMIC SCLEROSIS: A STUDY FROM THE EUSTAR HDATABASE

Author

Burja, B., primary, Boubaya, M., additional, Bruni, C., additional, Carreira, P., additional, Bergmann, C., additional, Ananyeva, L. P., additional, Riemekasten, G., additional, Masado, O., additional, De Vries-Bouwstra, J. K., additional, Rosato, E., additional, Truchetet, M. E., additional, Del Papa, N., additional, Marcoccia, A., additional, Atzeni, F., additional, Schmeiser, T., additional, Vonk, M., additional, Del Galdo, F., additional, Distler, O., additional, and Elhai, M., additional

Published
2024
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10. OP0238 IMMUNOSUPPRESSION WITH TARGETED DMARDS REDUCES MORBIDITY AND MORTALITY IN PRE-CAPILLARY PULMONARY HYPERTENSION ASSOCIATED WITH SYSTEMIC SCLEROSIS: A EUSTAR ANALYSIS

Author

Bruni, C., primary, Tofani, L., additional, Fretheim, H., additional, Weber, Y., additional, Hachulla, E., additional, Carreira, P., additional, Giuggioli, D., additional, Airò, P., additional, Siegert, E., additional, Müller-Ladner, U., additional, Matucci-Cerinic, M., additional, Riemekasten, G., additional, Simeon Aznar, C. P., additional, De Vries-Bouwstra, J., additional, Saketkoo, L. A., additional, Distler, J., additional, Balbir-Gurman, A., additional, Castellví, I., additional, Zanatta, E., additional, Smith, V., additional, Denton, C. P., additional, Maurer, B., additional, Giollo, A., additional, Iannone, F., additional, Dagna, L., additional, Truchetet, M. E., additional, Kuwana, M., additional, Allanore, Y., additional, Tanaka, Y., additional, Martin, M., additional, Rosato, E., additional, Gheorghiu, A. M., additional, Del Galdo, F., additional, Solanki, K., additional, Vacca, A., additional, Resende, C., additional, Vieira, S., additional, Czirják, L., additional, Baresic, M., additional, Cantatore, F. P., additional, Riccieri, V., additional, Andréasson, K., additional, Chung, L., additional, Souza Muller, C., additional, Opris-Belinski, D., additional, Rednic, S., additional, Sfikakis, P., additional, Levy, Y., additional, Hsu, V., additional, Heitmann, S., additional, Henes, J., additional, Moroncini, G., additional, Iudici, M., additional, De Langhe, E., additional, Herrick, A., additional, Montecucco, C., additional, Hoffmann-Vold, A. M., additional, and Distler, O., additional

Published
2023
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12. POS1263 SMOKING INFLUENCE ON AUTOANTIBODY PROFILE AND DISEASE PROGRESSION IN SYSTEMIC SCLEROSIS: AN EUSTAR DATABASE ANALYSIS

Author

Ciaffi, J., primary, Liem, S., additional, Wiland, P., additional, Atsumi, T., additional, Szücs, G., additional, Pellerito, R., additional, Balbir-Gurman, A., additional, Czirják, L., additional, Zanatta, E., additional, Koetter, I., additional, Shah, A., additional, Henes, J., additional, Matucci-Cerinic, M., additional, Airò, P., additional, Ursini, F., additional, Huizinga, T., additional, and De Vries-Bouwstra, J., additional

Published
2023
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16. AB0823 A BAYESIAN APPROACH TO DETERMINE THE ROLE OF ORAL ANTICOAGULANTS FOR THE OCCURRENCE OF DIGITAL ULCERS IN SYSTEMIC SCLEROSIS – A EUSTAR OBSERVATIONAL STUDY

Author

Garaiman, A., primary, Gebhard, C., additional, Mihai, C., additional, Dobrota, R., additional, Bruni, C., additional, Matucci-Cerinic, M., additional, Henes, J., additional, De Vries-Bouwstra, J., additional, Smith, V., additional, Doria, A., additional, Allanore, Y., additional, Dagna, L., additional, Anic, B., additional, Montecucco, C., additional, Kowal-Bielecka, O., additional, Martin, M., additional, Tanaka, Y., additional, Hoffmann-Vold, A. M., additional, Distler, O., additional, and Becker, M. O., additional

Published
2023
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18. Haematopoietic stem cell transplantation for severe autoimmune diseases in children : a review of current literature, registry activity and future directions on behalf of the autoimmune diseases and paediatric diseases working parties of the European Society for Blood and Marrow Transplantation

Author

Achini‐Gutzwiller, FR, Snowden, JA, Corbacioglu, S, Greco, R, Alexander, T, Snowden, J, Badoglio, M, Labopin, M, Abinun, M, Apte, S, Arnold, R, Domenech, A, Brierley, C, Burman, J, Castilla‐Llorente, C, Cooper, N, Daghia, G, Daikeler, T, del Papa, N, de Vries‐Bouwstra, J, Farge, D, Finke, J, Hagglund, H, Hawkey, C, Henes, J, Hiepe, F, Jessop, H, Kiely, D, Kazmi, M, Kirgizov, K, Kramer, E, Mancardi, G, Marjanovic, Z, Martin, R, Martin, T, Ma, D, Moore, J, Miller, P, Muraro, P, Oliveira, M, Polushin, A, Onida, F, Simoes, B, Puyade, M, Resnick, I, Ricart, E, Rovira, M, Saccardi, R, Saif, M, Sakellari, I, Sharrack, B, Snarski, E, Scherer, HU, Sossa, C, Withers, B, Wulffraat, N, Zaccara, E, Amrolia, P, Ansari, M, Balduzzi, A, Dalassier, A, Dalle, J, Diaz, CH, Feuchtinger, T, Locatelli, F, Lucchini, G, Galimard, J, Vincent, MG, Handgretinger, R, Kleinschmidt, K, Lawitschka, A, Martinez, AP, Peters, C, Rocha, V, Ruggeri, A, Sedlacek, P, Svec, P, Toporski, J, Yesilipek, A, Achini-Gutzwiller, F, Snowden, J, Corbacioglu, S, Greco, R, Alexander, T, Badoglio, M, Labopin, M, Abinun, M, Apte, S, Arnold, R, Domenech, A, Brierley, C, Burman, J, Castilla-Llorente, C, Cooper, N, Daghia, G, Daikeler, T, del Papa, N, de Vries-Bouwstra, J, Farge, D, Finke, J, Hagglund, H, Hawkey, C, Henes, J, Hiepe, F, Jessop, H, Kiely, D, Kazmi, M, Kirgizov, K, Kramer, E, Mancardi, G, Marjanovic, Z, Martin, R, Martin, T, Ma, D, Moore, J, Miller, P, Muraro, P, Oliveira, M, Polushin, A, Onida, F, Simoes, B, Puyade, M, Resnick, I, Ricart, E, Rovira, M, Saccardi, R, Saif, M, Sakellari, I, Sharrack, B, Snarski, E, Scherer, H, Sossa, C, Withers, B, Wulffraat, N, Zaccara, E, Amrolia, P, Ansari, M, Balduzzi, A, Dalassier, A, Dalle, J, Diaz, C, Feuchtinger, T, Locatelli, F, Lucchini, G, Galimard, J, Vincent, M, Handgretinger, R, Kleinschmidt, K, Lawitschka, A, Martinez, A, Peters, C, Rocha, V, Ruggeri, A, Sedlacek, P, Svec, P, Toporski, J, and Yesilipek, A

Subjects
autoimmune diseases, haematopoietic stem cell transplantation, paediatric, ddc:610, paediatric, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, haematopoietic stem cell transplantation, 610 Medizin, autoimmune diseases, autoimmune disease, Hematology
Abstract

Although modern clinical management strategies have improved the outcome of paediatric patients with severe autoimmune and inflammatory diseases over recent decades, a proportion will experience ongoing or recurrent/relapsing disease activity despite multiple therapies often leading to irreversible organ damage, and compromised quality of life, growth/development and long-term survival. Autologous and allogeneic haematopoietic stem cell transplantation (HSCT) have been used successfully to induce disease control and often apparent cure of severe treatment-refractory autoimmune diseases (ADs) in children. However, transplant-related outcomes are disease-dependent and long-term outcome data are limited in respect to efficacy and safety. Moreover, balancing risks of HSCT against AD prognosis with continually evolving non-transplant options is challenging. This review appraises published literature on HSCT strategies and outcomes in individual paediatric ADs. We also provide a summary of the European Society for Blood and Marrow Transplantation (EBMT) Registry, where 343 HSCT procedures (176 autologous and 167 allogeneic) have been reported in 326 children (

Published
2022

19. Late Skin Fibrosis in Systemic Sclerosis: A Study from the EUSTAR Cohort

Author

Michael Hughes 1 2, Suiyuan Huang 3 4, Juan Jose Alegre-Sancho 5, Patricia E Carreira 6, Merete Engelhart 7, Eric Hachulla 8, Joerg Henes 9, Eduardo Kerzberg 10, Maria Rosa Pozzi 11, Gabriela Riemekasten 12, Vanessa Smith 13, Gabriella Szücs 14, Marie Vanthuyne 15, Elisabetta Zanatta 16, Oliver Distler 17, Armando G Gabrielli 18, Anna-Maria Hoffmann-Vold 19, Virginia D Steen 20, Dinesh Khanna 3 21, EUSTAR Airò P, Allanore A, Ananieva Lp, Anic B, Balbir-Gurman A, Becvar R, Benvenuti F, Cantatore F P, Chung L S, Cuomo G, Cutolo M, Czirják L, Damjanov N, de Vries-Bouwstra J, Del Galdo F, Distler J, Eyerich K, Farge D, Foti R, Gheorghiu A M, Giollo A, Heitmann S, Herrick A, Hesselstrand R, Hsu I M, Hunzelmann N, Iannone F, Iudici M, Ionescuc M R, Ingegnoli F, Jose J, Joven B E, Kerzberg E, Kucharz E J, Kuwana M, Langhe E D, Launay D, Lefebvre P, Litinsky I, García de la Peña Lefebvre P, González-Martín J J, Li M, Loyo E, Martin T, Matucci-Cerinic M, Maurer B, Moroncini G, Mouthon L, Müller Cs, Müller-Ladner U, Novak S, Pastor P, Pecher A-C, Pellerito R, Pozzi M R, Oksel F, Rednic S, Rezus E, Riccieri V, Rosato E, Saketkoo L A, Salvador M J, Schmeiser T, Selmi C F, Sibilia J, Siegert E, Solanki K, Sommerlatte S, Spertini F, Stamenkovic B, Stamp L, Tanaseanu C-M, Tikly M, Tineo C, Ullman S, Üprus M, Vanthuyne M, Veale D, Walker U, Wiland P, Yargucu F, Yavuz S, University of Zurich, Michael Hughes, 1 2, Suiyuan Huang, 3 4, Juan Jose Alegre-Sancho, 5, Patricia, E Carreira 6, Merete Engelhart, 7, Eric Hachulla, 8, Joerg Henes, 9, Eduardo Kerzberg, 10, Maria Rosa Pozzi, 11, Gabriela Riemekasten, 12, Vanessa Smith, 13, Gabriella Szücs, 14, Marie Vanthuyne, 15, Elisabetta Zanatta, 16, Oliver Distler, 17, Armando, G Gabrielli 18, Anna-Maria Hoffmann-Vold, 19, Virginia, D Steen 20, Dinesh Khanna, 3 21, EUSTAR Airò, P, Allanore, A, Ananieva, Lp, Anic, B, Balbir-Gurman, A, Becvar, R, Benvenuti, F, Cantatore, F P, Chung, L S, Cuomo, G, Cutolo, M, Czirják, L, Damjanov, N, de Vries-Bouwstra, J, Del Galdo, F, Distler, J, Eyerich, K, Farge, D, Foti, R, Gheorghiu, A M, Giollo, A, Heitmann, S, Herrick, A, Hesselstrand, R, Hsu, I M, Hunzelmann, N, Iannone, F, Iudici, M, Ionescuc, M R, Ingegnoli, F, Jose, J, Joven, B E, Kerzberg, E, Kucharz, E J, Kuwana, M, Langhe, E D, Launay, D, Lefebvre, P, Litinsky, I, García de la Peña Lefebvre, P, González-Martín, J J, Li, M, Loyo, E, Martin, T, Matucci-Cerinic, M, Maurer, B, Moroncini, G, Mouthon, L, Müller, C, Müller-Ladner, U, Novak, S, Pastor, P, Pecher, A-C, Pellerito, R, Pozzi, M R, Oksel, F, Rednic, S, Rezus, E, Riccieri, V, Rosato, E, Saketkoo, L A, Salvador, M J, Schmeiser, T, Selmi, C F, Sibilia, J, Siegert, E, Solanki, K, Sommerlatte, S, Spertini, F, Stamenkovic, B, Stamp, L, Tanaseanu, C-M, Tikly, M, Tineo, C, Ullman, S, Üprus, M, Vanthuyne, M, Veale, D, Walker, U, Wiland, P, Yargucu, F, and Yavuz, S

Subjects
Rheumatology, Cohort enrichment, 10051 Rheumatology Clinic and Institute of Physical Medicine, Late disease, Systemic sclerosis, Pharmacology (medical), 610 Medicine & health, Fibrosis, Clinical trial design, Scleroderma, Skin
Abstract

Objectives The early trajectory of skin fibrosis provides insights into the disease course of systemic sclerosis (SSc) including mortality; however, little is known about late skin fibrosis. The aims of our study were to ascertain the prevalence and characteristics of late skin fibrosis in SSc. Methods We developed and tested three conceptual scenarios of late (>5 years after first non-RP feature) skin fibrosis including new worsening of skin disease, and failure to improve after worsening within 5-year window. We defined skin worsening as change in modified Rodnan skin score (mRSS) ≥5 units or ≥25%. Using strict inclusion criteria including complete mRSS, we identified 1,043 (out of 19 115) patients within the EUSTAR database for our analysis. We further restricted analysis within 887 (out of 1043) patients who had lcSSc or dcSSc at baseline. Results One-fifth of patients among the whole cohort (n = 208/1043, 19.9%) experienced mRSS worsening, including in patients with lcSSc or dcSSc at baseline (n = 193/887, 21.8%). This was largely due to new skin worsening after the 5-year window or failure to improve with worsening within the 5-year window. Patients with lower baseline mRSS and lcSSc were more likely to develop late skin fibrosis. Anti-Scl-70 was associated with progression from baseline lcSSc to dcSSc, and anticentromere was protective. Conclusions Late skin fibrosis is not uncommon in SSc. We have identified different patterns relevant to clinical practice and trial design. Late skin fibrosis is a neglected manifestation of SSc and warrants further investigation including to determine clinical outcomes and optimal therapeutic strategy.

Published
2022

20. Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners

Author

Farge, D, Burt, R K, Oliveira, M-C, Mousseaux, E, Rovira, M, Marjanovic, Z, de Vries-Bouwstra, J, Del Papa, N, Saccardi, R, Shah, S J, Lee, D C, Denton, C, Alexander, T, Kiely, D G, and Snowden, J A

Published
2017
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21. POS0140 PREDICTING OUTCOMES IN SYSTEMIC SCLEROSIS: STRATIFICATION BY AUTO-ANTIBODIES OUTPERFORMS CUTANEOUS SUBSETTING IN THE EUSTAR COHORT

Author

Elhai, M., primary, Boubaya, M., additional, Sritharan, N., additional, Balbir-Gurman, A., additional, Siegert, E., additional, Hachulla, E., additional, De Vries-Bouwstra, J., additional, Riemekasten, G., additional, Distler, J. H. W., additional, Veale, D., additional, Rosato, E., additional, Del Galdo, F., additional, Mendoza, F. A., additional, Furst, D., additional, De la Puente Bujidos, C., additional, Hoffmann-Vold, A. M., additional, Gabrielli, A., additional, Distler, O., additional, Bloch-Queyrat, C., additional, and Allanore, Y., additional

Published
2022
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22. AB1236 CLINICAL CHARACTERISTICS OF JUVENILE ONSET SYSTEMIC SCLEROSIS PATIENTS FROM THE JUVENILE SCLERODERMA INCEPTION COHORT COMPARED TO ADULT AGE JUVENILE-ONSET PATIENTS FROM EUSTAR. ARE THESE DIFFERENCES SUGGESTING RISK FOR MORTALITY?

Author

Foeldvari, I., primary, Klotsche, J., additional, Carreira, P., additional, Kasapcopur, O., additional, Torok, K., additional, Airò, P., additional, Iannone, F., additional, Allanore, Y., additional, Balbir-Gurman, A., additional, Schmeiser, T., additional, Sztajnbok, F. R., additional, Terreri, M. T., additional, Stanevicha, V., additional, Anton, J., additional, Feldman, B., additional, Khubchandani, R., additional, Alexeeva, E., additional, Johnson, S., additional, Katsikas, M., additional, Sawhney, S., additional, Smith, V., additional, Appenzeller, S., additional, Avcin, T., additional, Campochiaro, C., additional, De Vries-Bouwstra, J., additional, Kostik, M., additional, Lehman, T., additional, Marrani, E., additional, Schonenberg, D., additional, Sifuentes-Giraldo, W. A., additional, Vasquez-Canizares, N., additional, Janarthanan, M., additional, Malcova, H., additional, Moll, M., additional, Nemcova, D., additional, Patwardhan, A., additional, Santos, M. J., additional, Seskute, G., additional, Truchetet, M. E., additional, Battagliotti, C., additional, Berntson, L., additional, Bica, B., additional, Brunner, J., additional, Cimaz, R., additional, Costa Reis, P., additional, Eleftheriou, D., additional, Harel, L., additional, Horneff, G., additional, Kaiser, D., additional, Kallinich, T., additional, Lazarevic, D., additional, Minden, K., additional, Nielsen, S., additional, Nuruzzaman, F., additional, Opsahl Hetlevik, S., additional, Uziel, Y., additional, Veale, D., additional, Hoffmann-Vold, A. M., additional, Gabrielli, A., additional, and Distler, O., additional

Published
2022
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27. POS0383 CLINICAL CHARACTERISTICS AND PROGNOSIS OF PATIENTS WITH SYSTEMIC SCLEROSIS SINE SCLERODERMA: DATA FROM THE INTERNATIONAL EUSTAR DATABASE.

Author

Lescoat, A., primary, Huang, S., additional, Carreira, P., additional, Siegert, E., additional, De Vries-Bouwstra, J., additional, Distler, J. H. W., additional, Smith, V., additional, Del Galdo, F., additional, Anic, B., additional, Damjanov, N., additional, Rednic, S., additional, Ribi, C., additional, Farge, D., additional, Hoffmann-Vold, A. M., additional, Gabrielli, A., additional, Distler, O., additional, Khanna, D., additional, and Allanore, Y., additional

Published
2022
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28. AB0675 Health related quality of life in patients with mixed connective tissue disease: A comparison with matched systemic sclerosis patients

Author

Abouyahya, I., primary, Liem, S., additional, Amoura, Z., additional, Fonseca, J. E., additional, Chaigne, B., additional, Cutolo, M., additional, Doria, A., additional, Fischer-Betz, R., additional, Guimaraes, V., additional, Hachulla, E., additional, Huizinga, T., additional, van Laar, J. M., additional, Martin, T., additional, Matucci-Cerinic, M., additional, Montecucco, C., additional, Schneider, M., additional, Smith, V., additional, Tincani, A., additional, Müller-Ladner, U., additional, and de Vries-Bouwstra, J., additional

Published
2022
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29. POS0388 DEVELOPING A SCREENING TOOL FOR THE DETECTION OF INTERSTITIAL LUNG DISEASE IN SYSTEMIC SCLEROSIS: THE ILD-RISC RISK SCORE

Author

Bruni, C., primary, Tofani, L., additional, Fretheim, H., additional, Liem, S., additional, Velauthapillai, A., additional, Bjørkekjær, H. J., additional, Barua, I., additional, Galetti, I., additional, Garaiman, A., additional, Becker, M. O., additional, Hoffmann-Vold, A. M., additional, De Vries-Bouwstra, J., additional, Vonk, M., additional, Distler, J. H. W., additional, Matucci-Cerinic, M., additional, and Distler, O., additional

Published
2022
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30. CLINICAL CHARACTERISTICS AND PROGNOSIS OF PATIENTS WITH SYSTEMIC SCLEROSIS SINE SCLERODERMA: DATA FROM THE INTERNATIONAL EUSTAR DATABASE

Author

Lescoat, A, Huang, S., Carreira, P, Siegert, E., de Vries-Bouwstra, J., Distler, Jörg, Smith, V., del Galdo, F., Anic, B., Damjanov, N., Rednic, S., Ribi, C., Farge, D., Hoffmann-Vold, A. M., Gabrielli, A., Distler, O., Khanna, D., Allanore, Y, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique [EHESP] (EHESP), University of Michigan [Ann Arbor], University of Michigan System, Hospital Universitario 12 de Octubre [Madrid], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Universiteit Leiden, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Ghent University Hospital, University of Leeds, University Hospital Centre Zagreb, Partenaires INRAE, University of Belgrade [Belgrade], Babes-Bolyai University [Cluj-Napoca] (UBB), Lausanne University Hospital, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Oslo University Hospital [Oslo], Università Politecnica delle Marche [Ancona] (UNIVPM), University hospital of Zurich [Zurich], Hôpital Cochin [AP-HP], Universiteit Leiden [Leiden], and Chard-Hutchinson, Xavier

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2022

31. IMMUNOSUPPRESSION WITH TARGETED DMARDS REDUCES MORBIDITY AND MORTALITY IN PRE-CAPILLARY PULMONARY HYPERTENSION ASSOCIATED WITH SYSTEMIC SCLEROSIS: A EUSTAR ANALYSIS.

Author

Bruni, C., Tofani, L., Fretheim, H., Weber, Y., Hachulla, E., Carreira, P., Giuggioli, D., Airò, P., Siegert, E., Müller-Ladner, U., Matucci-Cerinic, M., Riemekasten, G., Aznar, C. P. Simeon, De Vries-Bouwstra, J., Saketkoo, L. A., Distler, J., Balbir-Gurman, A., Castellví, I., Zanatta, E., and Smith, V.

Published
2023
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34. POS0877 THE EFFECT OF PLATELET INHIBITORS ON DIGITAL ULCERS IN SYSTEMIC SCLEROSIS - A DERIVATION AND VALIDATION EUSTAR STUDY

Author

Garaiman, A., primary, Steigmiller, K., additional, Gebhard, C., additional, Mihai, C., additional, Dobrota, R., additional, Matucci-Cerinic, M., additional, Henes, J., additional, De Vries-Bouwstra, J., additional, Smith, V., additional, Doria, A., additional, Allanore, Y., additional, Dagna, L., additional, Anic, B., additional, Montecucco, C., additional, Kowal-Bielecka, O., additional, Martin, M., additional, Tanaka, Y., additional, Hoffmann-Vold, A. M., additional, Held, U., additional, Distler, O., additional, and Becker, M. O., additional

Published
2021
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35. POS0317 THE PERFORMANCE OF DIFFUSING CAPACITY FOR MONOXIDE CARBON (DLCO) AND FORCED VITAL CAPACITY (FVC) IN PREDICTING THE ONSET OF SYSTEMIC SCLEROSIS (SSc)-INTERSTITIAL LUNG DISEASE (ILD) IN THE EUROPEAN SCLERODERMA TRIALS AND RESEARCH (EUSTAR) DATABASE

Author

Lepri, G., primary, Bruni, C., additional, Tofani, L., additional, Moggi Pignone, A., additional, Orlandi, M., additional, Sara, T., additional, Hughes, M., additional, Del Galdo, F., additional, Irace, R., additional, Distler, O., additional, Riccieri, V., additional, Allanore, Y., additional, Gheorghiu, A. M., additional, Siegert, E., additional, De Vries-Bouwstra, J., additional, Hachulla, E., additional, Tikly, M., additional, Damjanov, N., additional, Spertini, F., additional, Mouthon, L., additional, Hoffmann-Vold, A. M., additional, Gabrielli, A., additional, Guiducci, S., additional, Matucci-Cerinic, M., additional, Furst, D., additional, and Bellando Randone, S., additional

Published
2021
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36. Genomic Risk Score impact on susceptibility to systemic sclerosis

Author

Bossini-Castillo, Lara, Villanueva-Martin, Gonzalo, Kerick, Martin, Acosta-Herrera, Marialbert, López-Isac, Elena, Simeón, Carmen P, Ortego-Centeno, Norberto, Assassi, Shervin, International SSc Group, Australian Scleroderma Interest Group (ASIG), PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry study group, Hunzelmann, Nicolas, Gabrielli, Armando, de Vries-Bouwstra, J K, Allanore, Yannick, Fonseca, Carmen, Denton, Christopher P, Radstake, Timothy Rdj, Alarcón-Riquelme, Marta Eugenia, Beretta, Lorenzo, Mayes, Maureen D, and Martin, Javier

Subjects
0301 basic medicine, Oncology, Male, Genome-wide association study, Arthritis, Rheumatoid, 0302 clinical medicine, Risk Factors, Immunology and Allergy, Medicine, Lupus Erythematosus, Systemic, scleroderma, skin and connective tissue diseases, Framingham Risk Score, integumentary system, Middle Aged, Sjogren's Syndrome, Rheumatoid arthritis, Antibodies, Antinuclear, Cohort, Female, Adult, medicine.medical_specialty, Immunology, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, White People, 03 medical and health sciences, Rheumatology, Scleroderma, Limited, Internal medicine, Humans, autoimmune diseases, Genetic Predisposition to Disease, Allele, Aged, Autoantibodies, Scleroderma, Systemic, Receiver operating characteristic, immune complex diseases, business.industry, fungi, systemic, medicine.disease, 030104 developmental biology, Case-Control Studies, Scleroderma, Diffuse, Linear Models, business, 030217 neurology & neurosurgery, Immune complex disease, DNA Topoisomerases, Genome-Wide Association Study
Abstract

ObjectivesGenomic Risk Scores (GRS) successfully demonstrated the ability of genetics to identify those individuals at high risk for complex traits including immune-mediated inflammatory diseases (IMIDs). We aimed to test the performance of GRS in the prediction of risk for systemic sclerosis (SSc) for the first time.MethodsAllelic effects were obtained from the largest SSc Genome-Wide Association Study (GWAS) to date (9 095 SSc and 17 584 healthy controls with European ancestry). The best-fitting GRS was identified under the additive model in an independent cohort that comprised 400 patients with SSc and 571 controls. Additionally, GRS for clinical subtypes (limited cutaneous SSc and diffuse cutaneous SSc) and serological subtypes (anti-topoisomerase positive (ATA+) and anti-centromere positive (ACA+)) were generated. We combined the estimated GRS with demographic and immunological parameters in a multivariate generalised linear model.ResultsThe best-fitting SSc GRS included 33 single nucleotide polymorphisms (SNPs) and discriminated between patients with SSc and controls (area under the receiver operating characteristic (ROC) curve (AUC)=0.673). Moreover, the GRS differentiated between SSc and other IMIDs, such as rheumatoid arthritis and Sjögren’s syndrome. Finally, the combination of GRS with age and immune cell counts significantly increased the performance of the model (AUC=0.787). While the SSc GRS was not able to discriminate between ATA+ and ACA+ patients (AUCConclusionsGRS was successfully implemented in SSc. The model discriminated between patients with SSc and controls or other IMIDs, confirming the potential of GRS to support early and differential diagnosis for SSc.

Published
2020

37. Differential phenotypes of disease-specific auto-reactive B cell responses in patients with Systemic Sclerosis

Author

Scherer, HU, Wortel, C, Van Leeuwen, N, Boonstra, M, Toes, R, Huizinga, T, and De Vries-Bouwstra, J

Subjects
ddc: 610, integumentary system, 610 Medical sciences, Medicine, skin and connective tissue diseases
Abstract

Introduction: Systemic Sclerosis (SSc) carries the highest mortality burden among the rheumatic diseases. >95% of SSc patients harbor autoantibodies. Anti-topoisomerase antibodies (ATA) and anti-centromere antibodies (ACA) are most prevalent, mutually exclusive in individual patients, associate[for full text, please go to the a.m. URL], Deutscher Rheumatologiekongress 2020, 48. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 34. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh)

Published
2020
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38. Autologous haematopoietic stem cell transplantation and other cellular therapy in multiple sclerosis and immune-mediated neurological diseases

Author

Sharrack, B., Saccardi, R., Alexander, T., Badoglio, M., Burman, J., Farge, D., Greco, R., Jessop, H., Kazmi, M., Kirgizov, K., Labopin, M., Mancardi, G., Martin, R., Moore, J., Muraro, P.A., Rovira Tarrats, Montserrat, Sormani, M.P., Snowden, J.A., Snowden, J., McGrath, E., Bambi, F., Sanchez-Guijo, F., Worel, N., Badolglio, M., Abinun, M., Arnold, R., Brierley, C., Castilla-Llorente, C., Cooper, N., Daikeler, T., del Papa, N., Finke, J., Hagglund, H., Henes, J., Hiepe, F., Kiely, D., Marjanovic, Z., Martin, T., Ma, D., Miller, P., Muraro, P., Oliveira, M.C., Polushin, A., Onida, F., Simoes, B., Puyade, M., Resnick, I., Rovira, Montserrat, Saif, M., Sakellari, I., Snarski, E., Scherer, H.U., Sossa, C., de Vries-Bouwstra, J., Wulffraat, N., Zaccara, E., Universitat Autònoma de Barcelona, University of Zurich, and Snowden, John A

Subjects
Feature, medicine.medical_specialty, Multiple Sclerosis, Neurologi, Bone marrow transplantation, 2747 Transplantation, medicine.medical_treatment, Immunology, 2720 Hematology, Chronic inflammatory demyelinating polyneuropathy, 610 Medicine & health, Disease, Hematopoietic stem cell transplantation, Transplantation, Autologous, Accreditation, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, European Society for Blood and Marrow Transplantation (EBMT) Autoimmune Diseases Working Party (ADWP) and the Joint Accreditation Committee of the International Society for Cellular Therapy (ISCT) and EBMT (JACIE), Intensive care medicine, Peripheral neuropathies, Transplantation, Hematology, Neuromyelitis optica, business.industry, Multiple sclerosis, Hematopoietic Stem Cell Transplantation, 1103 Clinical Sciences, medicine.disease, 10040 Clinic for Neurology, Clinical trial, Europe, surgical procedures, operative, Neurology, business, 030217 neurology & neurosurgery, 030215 immunology
Abstract

These updated EBMT guidelines review the clinical evidence, registry activity and mechanisms of action of haematopoietic stem cell transplantation (HSCT) in multiple sclerosis (MS) and other immune-mediated neurological diseases and provide recommendations for patient selection, transplant technique, follow-up and future development. The major focus is on autologous HSCT (aHSCT), used in MS for over two decades and currently the fastest growing indication for this treatment in Europe, with increasing evidence to support its use in highly active relapsing remitting MS failing to respond to disease modifying therapies. aHSCT may have a potential role in the treatment of the progressive forms of MS with a significant inflammatory component and other immune-mediated neurological diseases, including chronic inflammatory demyelinating polyneuropathy, neuromyelitis optica, myasthenia gravis and stiff person syndrome. Allogeneic HSCT should only be considered where potential risks are justified. Compared with other immunomodulatory treatments, HSCT is associated with greater short-term risks and requires close interspeciality collaboration between transplant physicians and neurologists with a special interest in these neurological conditions before, during and after treatment in accredited HSCT centres. Other experimental cell therapies are developmental for these diseases and patients should only be treated on clinical trials.

Published
2020

39. Racial differences in systemic sclerosis disease presentation: A European Scleroderma Trials and Research group study

Author

Jaeger, Veronika K, Tikly, Mohammed, Dong, Xu, Siegert, Elise, Hachulla, Eric, Airò, Paolo, Valentini, Gabriele, Matucci Cerinic, Marco, Distler, Oliver, Cozzi, Franco, Carreira, Patricia, Allanore, Yannick, Müller-Ladner, Ulf, Ananieva, Lidia P, Balbir-Gurman, Alexandra, Distler, Jörg H W, Czirják, Laszlo, Mengtao, Li, Henes, Jörg, Jimenez, Sergio A, Smith, Vanessa, Damjanov, Nemanja, Denton, Christopher P, Delgaldo, Francesco, Saketkoo, Lesley Ann, Walker, Ulrich, A, Randone, Sb, Bannert, B, Iannone, F, Maurer, B, Jordan, S, Dobrota, R, Becker, M, Mihai, C, Becvarare, R, Tomčík, M, Bielecka, Ok, Gindzienska-Sieskiewicz, E, Karaszewska, K, Cutolo, M, Pizzorni, C, Paolino, S, Sulli, A, Ruaro, B, Alessandri, E, Riccardi, A, Giacco, V, Messitini, V, Irace, R, Kedor, C, Casteleyn, V, Hilger, J, Hoeppner, J, Rednic, S, Szabo, I, Petcu, A, Avouac, J, Camelia, F, Desbas, C, Vlachoyiannopoulos, P, Montecucco, C, Caporali, R, Cavagna, L, Stork, J, Inanc, M, Joven, Be, Novak, S, Anic, F, Varju, C, Minier, T, Chizzolini, C, Allai, D, Kucharz, Ej, Kotulska, A, Kopec-Medrek, M, Widuchowska, M, Dolnicar, As, Coleiro, B, Gabrielli, A, Manfredi, L, Benfaremo, D, Ferrarini, A, Bancel, Df, Hij, A, Lansiaux, P, Lazzaroni, Mg, Hesselstrand, R, Wuttge, D, Andréasson, R, Martinovic, D, Bozic, I, Radic, M, Braun-Moscovici, Y, Monaco, Al, Furini, F, Hunzelmann, N, Moinzadeh, P, Pellerito, R, Caimmi, C, Bertoldo, E, Morovic-Vergles, J, Culo, Im, Pecher, Ac, Santamaria, Vo, Heitmann, S, Codagnone, M, Pflugfelder, J, Krasowska, D, Michalska-Jakubus, M, Seidel, M, Hasler, P, Kretschmar, S, Kohm, M, Bajocchi, G, Salvador, Mj, Silva, Japd, Stamenkovic, B, Stankovic, A, Selmi, Cf, Santis, M, Ceribelli, A, Garzanova, L, Koneva, O, Starovoytova, M, Herrick, A, Puppo, F, Negrini, S, Murdaca, G, Engelhart, M, Szücs, G, Szamosi, S, de la Puente, C, Grande, Cs, Villanueva, Mjg, Midtvedt, Sø, Hoffmann-Vold, Am, Launay, D, Sobanski, V, Riccieri, V, Vasile, M, Ionescu, Rm, Opris, D, Sha, A, Woods, A, Gheorghiu, Am, Bojinca, M, Sunderkötter, C, Ehrchen, J, Ingegnoli, F, Mouthon, L, Dunogue, B, Chaigne, B, Legendre, P, Cantatore, Fp, Corrado, A, Ullman, S, Iversen, L, von Mühlen CA, Pozzi, Mr, Eyerich, K, Lauffer, F, Wiland, P, Szmyrka-Kaczmarek, M, Sokolik, R, Morgiel, E, Madej, M, Vanthuyne, M, Frédéric, H, Alegre-Sancho, Jj, Aringer, M, Herrmann, K, Günther, C, Westhovens, R, Langhe, E, Lenaerts, J, Anic, B, Baresic, M, Mayer, M, Üprus, M, Otsa, K, Yavuz, S, Granel, B, Radominski, Sc, De, C, Müller, S, Azevedo, Vf, Mendoza, F, Busquets, J, Popa, S, Agachi, S, Zenone, T, Pileckyte, M, Stebbings, S, Mathieu, A, Vacca, A, Sampaio-Barros, Pd, Stamp, L, Solanki, K, Silva, C, Schollum, J, Barns-Graham, H, Veale, D, O'Rourke, M, Loyo, E, Tineo, C, Paulino, G, Mohamed, Waaa, Rosato, E, Gigante, A, Oksel, F, Yargucu, F, Tanaseanu, Cm, Popescu, M, Dumitrascu, A, Tiglea, I, Foti, R, Visalli, E, Benenati, A, Amato, G, Ancuta, C, Villiger, P, Adler, S, Fröhlich, J, Kayser, C, Eduardo, Al, Fathi, N, Alii, S, Ahmed, M, Hasaneen, S, Hakeem, Ee, de la PG, Lefebvre, P, Martin, Jjg, Sibilia, J, Chatelus, E, Gottenberg, Je, Chifflot, H, Litinsky, I, Galdo, Fd, Abignano, G, Eng, S, Seskute, G, Butrimiene, I, Rugiene, R, Karpec, D, Pascal, M, Kerzberg, E, Bianchi, W, Bianchi, Bv, Bianchi, Dv, Barcellos, Y, Castellví, I, Millan, M, Limonta, M, Rimar, D, Rosner, I, Slobodin, G, Couto, M, Spertini, F, Ribi, C, Buss, G, Marcoccia, A, Bondanini, F, Ciani, A, Kahl, S, Hsu, Vm, Martin, T, Poindron, V, Meghit, K, Moiseev, S, Novikov, P, Chung, L, Kolstad, K, Stark, M, Schmeiser, T, Thiele, A, Majewski, D, Zdrojewski, Z, Zaneta, S, Wierzba, K, Martínez-Barrio, J, López-Longo, Fj, Bernardino, V, Moraes-Fontes, Mf, Rodrigues, Ac, Riemekasten, G, Sommerlatte, S, Jendreck, S, Arnold, S, Levy, Y, Rezus, E, Cardoneanu, A, Burlui, Am, Pamuk, On, Puttini, Ps, Talotta, R, Bongiovanni, S, Poormoghim, H, Andalib, E, Almasi, S, Kötter, I, Krusche, M, Cuomo, G, Danzo, F, Masini, F, Gaches, F, Michaud, M, Cartos, F, Belloli, L, Casu, C, Sfikakis, P, Tektonidou, M, Furst, D, Feldman, Gr, Ramazan, Am, Nurmambet, E, Miroto, A, Suta, C, Andronache, I, Huizinga, Twj, de Vries-Bouwstra, J., Chizzolini, Carlo, Jaeger, Veronika K, Tikly, Mohammed, Xu, Dong, Siegert, Elise, Hachulla, Eric, Airò, Paolo, Valentini, Gabriele, Matucci Cerinic, Marco, Distler, Oliver, Cozzi, Franco, Carreira, Patricia, Allanore, Yannick, Müller-Ladner, Ulf, Ananieva, Lidia P, Balbir-Gurman, Alexandra, Distler, Jörg H W, Czirják, Laszlo, Li, Mengtao, Henes, Jörg, Jimenez, Sergio A, Smith, Vanessa, Damjanov, Nemanja, Denton, Christopher P, Delgaldo, Francesco, Saketkoo, Lesley Ann, Walker, Ulrich A, University of Zurich, Cerinic, Marco Matucci, Walker Ulrich, A, Randone, Silvia Bellando, Bannert, Bettina, Iannone, Florenzoaa, Maurer, Brittaab, Jordan, Suzanaab, Dobrota, Rucsandraab, Becker, Mikeab, Mihai, Carinaa, Becvarare, Radima, Tomcik, Michala, Bielecka, Otylia Kowala, Gindzienska-Sieskiewicz, Ewaa, Karaszewska, Katarzynaa, Cutolo, Maurizioa, Pizzorni, Carmena, Paolino, Sabrinaae, Sulli, Albertoa, Ruaro, Barbara, Alessandri, Elisa, Riccardi, Antonella, Giacco, Veronica, Messitini, Valentina, Irace, Rosaria, Kedor, Claudia, Casteleyn, Vincent, Hilger, Julia, Hoeppner, Jakob, Rednic, Simona, Szabo, Iulia, Petcu, Ana, Avouac, Jérome, Camelia, Frantz, Desbas, Carole, Vlachoyiannopoulos, Panayioti, Montecucco, Carlo Maurizio, Caporali, Roberto, Cavagna, Lorenzo, Stork, Jiri, Inanc, Murat, Joven, Beatriz E., Novak, Srdan, Anic, Felina, Varju, Cecilia, Minier, Tunde, Allai, Daniela, Kucharz, Eugene J., Kotulska, Anna, Kopec-Medrek, Magdalena, Widuchowska, Malgorzata, Dolnicar, Alenka Sipek, Coleiro, Bernard, Gabrielli, Armando, Manfredi, Lucia, Benfaremo, Devi, Ferrarini, Alessia, Bancel, Dominique Farge, Hij, Adrian, Lazzaroni, Maria Grazia, Hesselstrand, Roger, Wuttge, Dirk, Andréasson, Kristofer, Martinovic, Duska, Bozic, Ivona, Radic, Mislav, Braun-Moscovici, Yolanda, Monaco, Andrea Lo, Furini, Federica, Hunzelmann, Nicola, Moinzadeh, Pia, Pellerito, Raffaele, Caimmi, Cristian, Bertoldo, Eugenia, Morovic-Vergles, Jadranka, Culo, Ivana Melanie, Pecher, Ann-Christian, Santamaria, Vera Ortiz, Heitmann, Stefan, Codagnone, Medeleine, Pflugfelder, Johanne, Krasowska, Dorota, Michalska-Jakubus, Malgorzata, Seidel, Matthia, Hasler, Paul, Kretschmar, Samuel, Kohm, Michaela, Bajocchi, Gianluigi, Salvador, Maria João, Da Silva, JoséAntonio Pereira, Stamenkovic, Bojana, Stankovic, Aleksandra, Selmi, Carlo Francesco, De Santis, Maria, Ceribelli, Angela, Garzanova, Ludmila, Koneva, Olga, Starovoytova, Maya, Herrick, Ariane, Puppo, Francesco, Negrini, Simone, Murdaca, Giuseppe, Engelhart, Merete, Szücs, Gabriela, Szamosi, Szilvia, De La Puente, Carlo, Grande, Cristina Sobrino, Villanueva, Maria Jesus Garcia, Midtve, Øyvindbw, Hoffmann-Vold, Anna-Mariabw, Launay, Davidbx, Sobanski, Vincentbx, Riccieri, Valeriaby, Vasile, Massimilianoby, Stefantoni, Katia, Ionescu, Ruxandra Maria, Opris, Daniela, Sha, Ami, Woods, Adrianne, Gheorghiu, Ana Maria, Bojinca, Mihai, Sunderkötter, Cord, Ehrchen, Jan, Ingegnoli, Francesca, Mouthon, Luc, Dunogue, Bertrand, Chaigne, Benjamin, Legendre, Paul, Cantatore, Francesco Paolo, Corrado, Ada, Ullman, Susanne, Iversen, Line, Von Mühlen, Carlos Alberto, Pozzi, Maria Rosa, Eyerich, Kilian, Lauffer, Felix, Wiland, Piotr, Szmyrka-Kaczmarek, Magdalena, Sokolik, Renata, Morgiel, Ewa, Madej, Marta, Vanthuyne, Marie, Frédéric, Houssiau, Alegre-Sancho, Juan Jose, Aringer, Martin, Herrmann, Kristine, Günther, Claudia, Westhovens, Rene, De Langhe, Ellen, Lenaerts, Jan, Anic, Branimir, Baresic, Marko, Mayer, Miroslav, Üprus, Maria, Otsa, Kati, Yavuz, Sule, Granel, Brigitte, Radominski, Sebastião Cezar, De Souza Müller, Carolina, Feijóazevedo, Valderílio, Mendoza, Fabian, Busquets, Joanna, Popa, Sergei, Agachi, Svetlana, Zenone, Thierry, Pileckyte, Margarita, Stebbings, Simon, Jordan, Sarah, Mathieu, Alessandro, Vacca, Alessandra, Sampaio-Barros, Percival D., Stamp, Lisa, Solanki, Kamal, Silva, Cherumi, Schollum, Joanne, Barns-Graham, Helen, Veale, Dougla, O'Rourke, Marie, Loyo, Esthela, Tineo, Carmen, Paulino, Glenny, Mohamed, Walid Ahmed Abdel Atty, Rosato, Edoardo, Gigante, Antonietta, Oksel, Fahrettin, Yargucu, Figen, Tanaseanu, Cristina-Mihaela, Popescu, Monica, Dumitrascu, Alina, Tiglea, Isabela, Foti, Rosario, Visalli, Elisa, Benenati, Alessia, Amato, Giorgio, Ancuta, Codrina, Villiger, Peter, Adler, Sabine, Fröhlich, Johanne, Kayser, Cristiane, Eduardo, Andrade Lui, Fathi, Nihal, Alii, Safa, Ahmed, Marrow, Hasaneen, Samar, El Hakeem, Eman, De La Peña Lefebvre, Paloma García, Martin, Jorge Juan Gonzalez, Sibilia, Jean, Chatelus, Emmanuel, Gottenberg, Jacques Eric, Chifflot, Hélène, Litinsky, Ira, Del Galdo, Francesco, Abignano, Giuseppina, Eng, Sookho, Seskute, Goda, Butrimiene, Irena, Rugiene, Rita, Karpec, Diana, Pascal, Melanie, Kerzberg, Eduardo, Bianchi, Washington, Bianchi, Breno Valdetaro, Bianchi, Dante Valdetaro, Barcellos, Yeda, Castellví, Ivan, Millan, Milena, Limonta, Massimiliano, Rimar, Doron, Rosner, Itzhak, Slobodin, Gleb, Couto, Maura, Spertini, Françoi, Ribi, Camillo, Buss, Guillaume, Marcoccia, Antonella, Bondanini, Francesco, Ciani, Aldo, Kahl, Sarah, Hsu, Vivien M., Martin, Thierry, Poindron, Vincent, Meghit, Kilifa, Moiseev, Sergey, Novikov, Pavel, Chung, Lori, Kolstad, Kathleen, Stark, Marianna, Schmeiser, Tim, Thiele, Astrid, Majewski, Dominik, Zdrojewski, Zbigniew, Zaneta, Smolenska, Wierzba, Karol, Martínez-Barrio, Julia, López-Longo, Francisco Javier, Bernardino, Vera, Moraes-Fontes, Maria Francisca, Rodrigues, Ana Catarina, Riemekasten, Gabriela, Sommerlatte, Sabine, Jendreck, Sebastian, Arnold, Sabrina, Levy, Yair, Rezus, Elena, Cardoneanu, Anca, Burlui, Alexandra Maria, Pamuk, Omer Nuri, Puttini, Piercarlo Sarzi, Talotta, Rossella, Bongiovanni, Sara, Poormoghim, Hadi, Andalib, Elham, Almasi, Simin, Kötter, Ina, Krusche, Matrin, Cuomo, Giovanna, Danzo, Fiammetta, Masini, Francesco, Gaches, Franci, Michaud, Martin, Cartos, Florian, Belloli, Laura, Casu, Cinzia, Sfikakis, Petro, Tektonidou, Maria, Furst, Daniel, Feldman, Gary R., Ramazan, Ana-Maria, Nurmambet, Emel, Miroto, Amalia, Suta, Cristina, Andronache, Iulia, Huizinga, Tom W. J., De Vries-Bouwstra, Jeska, and Walker, Ulrich A.

Subjects
Male, Vital capacity, Organ manifestations, systemic sclerosis, Type I, race difference, Systemic scleroderma, Gastroenterology, Scleroderma, immunology, 0302 clinical medicine, Diffusing capacity, middle aged, pulmonary hypertension, Medicine, Pharmacology (medical), 030212 general & internal medicine, organ manifestations, races, skin and connective tissue diseases, Lung, race, pathophysiology, African Continental Ancestry Group, ddc:616, integumentary system, disease course, Hazard ratio, Races, 10051 Rheumatology Clinic and Institute of Physical Medicine, Pulmonary, Middle Aged, Blacks, cohort analysis, Autoantibodie, 3. Good health, Asians, female, priority journal, DNA Topoisomerases, Type I, Black, centromere, Cohort, Hypertension, organ manifestation, Systemic sclerosis, Female, systemic sclerosi, Human, Adult, Asian Continental Ancestry Group, medicine.medical_specialty, Hypertension, Pulmonary, European Continental Ancestry Group, Black People, 610 Medicine & health, complication, Caucasian, White People, Article, lung, 03 medical and health sciences, Black person, Rheumatology, Asian People, forced vital capacity, Internal medicine, geographic distribution, Humans, controlled study, human, DNA topoisomerase, Aged, Autoantibodies, 030203 arthritis & rheumatology, Scleroderma, Systemic, Asian, business.industry, Whites, Systemic, Odds ratio, medicine.disease, Pulmonary hypertension, major clinical study, mortality, clinical feature, business, DNA Topoisomerases, autoantibody
Abstract

Objectives Racial factors play a significant role in SSc. We evaluated differences in SSc presentations between white patients (WP), Asian patients (AP) and black patients (BP) and analysed the effects of geographical locations. Methods SSc characteristics of patients from the EUSTAR cohort were cross-sectionally compared across racial groups using survival and multiple logistic regression analyses. Results The study included 9162 WP, 341 AP and 181 BP. AP developed the first non-RP feature faster than WP but slower than BP. AP were less frequently anti-centromere (ACA; odds ratio (OR) = 0.4, P < 0.001) and more frequently anti-topoisomerase-I autoantibodies (ATA) positive (OR = 1.2, P = 0.068), while BP were less likely to be ACA and ATA positive than were WP [OR(ACA) = 0.3, P < 0.001; OR(ATA) = 0.5, P = 0.020]. AP had less often (OR = 0.7, P = 0.06) and BP more often (OR = 2.7, P < 0.001) diffuse skin involvement than had WP. AP and BP were more likely to have pulmonary hypertension [OR(AP) = 2.6, P < 0.001; OR(BP) = 2.7, P = 0.03 vs WP] and a reduced forced vital capacity [OR(AP) = 2.5, P < 0.001; OR(BP) = 2.4, P < 0.004] than were WP. AP more often had an impaired diffusing capacity of the lung than had BP and WP [OR(AP vs BP) = 1.9, P = 0.038; OR(AP vs WP) = 2.4, P < 0.001]. After RP onset, AP and BP had a higher hazard to die than had WP [hazard ratio (HR) (AP) = 1.6, P = 0.011; HR(BP) = 2.1, P < 0.001]. Conclusion Compared with WP, and mostly independent of geographical location, AP have a faster and earlier disease onset with high prevalences of ATA, pulmonary hypertension and forced vital capacity impairment and higher mortality. BP had the fastest disease onset, a high prevalence of diffuse skin involvement and nominally the highest mortality.

Published
2020

40. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

Author

González-Serna, D., Ochoa, E., López-Isac, E., Julià, A., Degenhardt, F., Ortego-Centeno, N., Radstake, T.R.D.J., Franke, A., Marsal, S., Mayes, M.D., Martín, J., Márquez, A., Assassi, S., Zhou, X., Tan, F.K., Arnett, F.C., Reveille, J.D., Gorlova, O., Chen, W.V., Ying, J., Gregersen, P.K., Lee, A.T., Voskuyl, A.E., de Vries-Bouwstra, J., Magro-Checa, C., Broen, J., Koeleman, B.P.C., Simeón, C.P., Fonollosa, V., Guillén, A., Carreira, P., Castellví, I., González-Gay, M.A., Ríos, R., Callejas-Rubio, J.L., Vargas-Hitos, J.A., García-Portales, R., Camps, M.T., Fernández-Nebro, A., González-Escribano, M.F., García-Hernández, F.J., Castillo, M.J., Aguirre, M.Á., Gómez-Gracia, I., Rodríguez-Rodríguez, L., Fernández-Gutiérrez, B., de la Peña, P.G., Vicente, E., Andreu, J.L., Fernández de Castro, M., López-Longo, F.J., Martínez, L., Espinosa, G., Tolosa, C., Pros, A., Rodríguez-Carballeira, M., Narváez, F.J., Rubio-Rivas, M., Ortiz-Santamaría, V., Madroñero, A.B., Díaz, B., Trapiella, L., Sousa, A., Egurbide, M.V., Fanlo-Mateo, P., Sáez-Comet, L., Díaz-González, F., Hernández, V., Beltrán, E., Román-Ivorra, J.A., Grau, E., Alegre-Sancho, J.J., Blanco-García, F.J., Oreiro, N., Freire, M., Balsa, A., Ortiz, A.M., Hunzelmann, N., Riemekasten, G., Distler, J.H.W., Witte, T., Airó, P., Beretta, L., Santaniello, A., Bellocchi, C., Lunardi, C., Moroncini, G., Gabrielli, A., and Scleroderma, Genetic, Consortium

Abstract

Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5, 734 SSc patients, 4, 588 CD patients and 14, 568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.

Published
2020

41. GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Author

López-Isac, E., Acosta-Herrera, M., Kerick, M., Assassi, S., Satpathy, A.T., Granja, J., Mumbach, M.R., Beretta, L., Simeón, C.P., Carreira, P., Ortego-Centeno, N., Castellvi, I., Bossini-Castillo, L., Carmona, F.D., Orozco, G., Hunzelmann, N., Distler, J.H.W., Franke, A., Lunardi, C., Moroncini, G., Gabrielli, A., de Vries-Bouwstra, J., Wijmenga, C., Koeleman, B.P.C., Nordin, A., Padyukov, L., Hoffmann-Vold, A.-M., Lie, B., Ríos, R., Callejas, J.L., Vargas-Hitos, J.A., García-Portales, R., Camps, M.T., Fernández-Nebro, A., González-Escribano, M.F., García-Hernández, F.J., Castillo, M.J., Aguirre, M.A., Gómez-Gracia, I., Fernández-Gutiérrez, B., Rodríguez-Rodríguez, L., García de la Peña, P., Vicente, E., Andreu, J.L., Fernández de Castro, M., López-Longo, F.J., Martínez, L., Fonollosa, V., Guillén, A., Espinosa, G., Tolosa, C., Pros, A., Rodríguez-Carballeira, M., Narváez, F.J., Rubio-Rivas, M., Ortiz-Santamaría, V, Madroñero, A.B., González-Gay, M.A., Díaz, B., Trapiella, L., Sousa, A., Egurbide, M.V., Fanlo-Mateo, P., Sáez-Comet, L., Díaz, F., Hernández, V, Beltrán, E., Román-Ivorra, J.A., Grau E., Alegre-Sancho, J.J., Freire, M., Blanco-García, F.J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airó P., Magro, C., Voskuyl, A.E., Vonk, M.C., Hesselstrand, R., Proudman S., Stevens, W., Nikpour, M., Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, T., Herrick, A.L., Worthington, J., Denton C.P., Allanore, Y., Brown, M.A., Radstake, T.R.D.J., Fonseca, C., Chang H.Y., Mayes, M.D., Martin, J., European Scleroderma Group, Australian Scleroderma Interest Group (ASIG), Universidad de Salamanca, Ministerio de Economía y Competitividad (España), Junta de Andalucía, Ministerio de Educación, Cultura y Deporte (España), Instituto de Salud Carlos III, Howard Hughes Medical Institute, Federal Ministry of Education and Research (Germany), Universidad de Cantabria, [López-Isac E, Acosta-Herrera M, Kerick M] Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain. [Assassi S] The University of Texas Health Science Center-Houston, Houston, USA. [Satpathy AT, Granja J] Center for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, USA. Howard Hughes Medical Institute, Stanford University, Stanford, USA. [Simeón CP] Servei de Medicina Interna, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Rheumatology, and AII - Inflammatory diseases

Subjects
0301 basic medicine, Chemistry(all), AUTOIMMUNITY, Àcids nucleics, General Physics and Astronomy, Genome-wide association study, Disease, VARIANTS, Biochemistry, ANNOTATION, 0302 clinical medicine, Phosphopantothenoylcysteine decarboxylase, Single nucleotide, Non-U.S. Gov't, lcsh:Science, skin and connective tissue diseases, características del estudio::metaanálisis [CARACTERÍSTICAS DE PUBLICACIONES], Multidisciplinary, Nucleid acid conformation, integumentary system, Research Support, Non-U.S. Gov't, High-Throughput Nucleotide Sequencing, Genètica - Tècnica, 3. Good health, Nucleic acids, Sequence analysis DNA, Medical genetics, medicine.medical_specialty, Chromatin Immunoprecipitation, GENES, Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Genome-Wide Association Study [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Science, Non-P.H.S, Single-nucleotide polymorphism, Scleroderma systemic, Computational biology, Physics and Astronomy(all), Biology, Research Support, Study Characteristics::Meta-Analysis [PUBLICATION CHARACTERISTICS], Genetic polymorphisms, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Functional genomics, Genome-wide association studies, Systemic sclerosis, Rheumatic diseases, CLASSIFICATION, N.I.H, 03 medical and health sciences, Research Support, N.I.H., Extramural, Diacylglycerol kinase theta, Molecular genetics, REVEALS, Journal Article, medicine, Humans, Vascular Diseases, Risk factor, Polymorphism, Genomes, GENOME-WIDE ASSOCIATION, METAANALYSIS, 030203 arthritis & rheumatology, Scleroderma, Systemic, Biochemistry, Genetics and Molecular Biology(all), Polimorfisme genètic, HUMAN-CELLS, Extramural, Bayes Theorem, General Chemistry, Sequence Analysis, DNA, Fibrosis, 030104 developmental biology, Scleroderma (Disease), Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::estudio de asociación genómica completa [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Nucleic Acid Conformation, VISUALIZATION, lcsh:Q, U.S. Gov't, Esclerodèrmia, Research Support, U.S. Gov't, Non-P.H.S, Metaanàlisi, Genetics and Molecular Biology(all), Genome-Wide Association Study
Abstract

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments., We thank Sofia Vargas, Sonia García, and Gema Robledo for their excellent technical assistance and all the patients and control donors for their essential collaboration. We thank National DNA Bank Carlos III (University of Salamanca, Spain) that supplied part of the control DNA samples from Spain, WTCCC and EIRA Consortiums, and PopGen 2.0 network. This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50- HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1- 0423 and DoD W81XWH-16-1-0296, respectively

Published
2019

45. SAT0310 ANTI-CENTROMERE ANTIBODY ISOTYPE LEVELS AS BIOMARKER FOR DISEASE PROGRESSION IN SUBJECTS AT RISK TO DEVELOP SYSTEMIC SCLEROSIS

Author

Van Leeuwen, N., primary, Bakker, J., additional, Grummels, A., additional, Wortel, C., additional, Jordan, S., additional, Liem, S., additional, Distler, O., additional, Hoffmann-Vold, A. M., additional, Melsens, K., additional, Smith, V., additional, Truchetet, M. E., additional, Scherer, H. U., additional, Toes, R., additional, Huizinga, T., additional, and De Vries-Bouwstra, J., additional

Published
2020
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