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1. Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development

Author

Mayes M, Coenen MJH, Airò P, Gonzalez-Gay M A, Ortego-Centeno N, Carreira P, Fonollosa V, Simeon C P, Scorza R, Kiener H, Riemekasten G, Fonseca C, Denton C, Hunzelman N, Worthington J, Hesselstrand R, Herrick A, Brouwer C, Rueda B, Geurts-van Bon L, Niederer F, Beretta L, Vonk M C, Broen JCA, Gourh P, Kyburz D, Arnett F C, Martin J, and Radstake TRDJ

Subjects
Medicine
Published
2010
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2. Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with Systemic Sclerosis and do not influence gene expression

Author

Aliprantis A, Coenen MJH, Airò P, Gonzalez-Gay M A, Ortego-Centeno N, Carreira P, Fonollosa V, Scorza R, Simeon C P, Kiener H, Riemekasten G, Hunzelmann N, Worthington J, Herrick A, Rueda B, Beretta L, Vonk M C, Dieude P, Broen JCA, Martin J, Allanore Y, and Radstake TRDJ

Subjects
Medicine
Published
2010
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4. POS0030 SAFETY AND PRELIMINARY EFFICACY OF CD19 CAR-T CELL TREATMENT IN RHEUMATIC DISEASE- DATA FROM THE FIRST PART OF THE PHASE I/II CASTLE BASKET STUDY

Author

Schett, G., primary, Bohr, D., additional, Mueller, F., additional, Hagen, M., additional, Bergmann, C., additional, Tur, C., additional, Völkl, S., additional, Aigner, M., additional, Krestchmann, S., additional, Spörl, S., additional, Vasova, I., additional, Aletaha, D., additional, Kiener, H., additional, Natalello, G., additional, Grieshaber-Bouyer, R., additional, Bozec, A., additional, Locatelli, F., additional, D`agostino, M. A., additional, and Mackensen, A., additional

Published
2024
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5. AB0056 CYTOKINE-DIRECTED CELLULAR CROSSTALK IMPRINTS SYNOVIAL PATHOTYPES IN RHEUMATOID ARTHRITIS

Author

Kugler, M., primary, Dellinger, M., additional, Kartnig, F., additional, Müller, L., additional, Preglej, T., additional, Heinz, L., additional, Simader, E., additional, Göschl, L., additional, Puchner, S., additional, Weiss, S., additional, Superi-Furga, G., additional, Smolen, J. S., additional, Steiner, G., additional, Aletaha, D., additional, Kiener, H., additional, Tosevska, A., additional, Karonitsch, T. M., additional, and Bonelli, M., additional

Published
2023
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7. Entzündliche Gelenkerkrankungen

Author

Machold, K. P., Kiener, H. P., Redlich, K., Scheinecker, C., Siegmeth, W., Huemer, Ch., Dunky, A., Hermann, J., Winkler, H., Lindner, E., Schirmer, M., Thumb, N., Thonhofer, R., Dejaco, Ch., Duftner, Ch., Graninger, W., Mirus, S., Ebner, W., Holinka, J., Wanivenhaus, A., Grohs, J. G., Yazdani-Biuki, B., Stummvoll, G., Aringer, M., Aletaha, D., Petera, P., Steindl, M., Nothnagl, Th., Leeb, B. F., Stradner, M. H., Kolarz, G., Sautner, J., Dunky, Attila, editor, Graninger, Winfried, editor, Herold, Manfred, editor, Smolen, Josef, editor, and Wanivenhaus, Axel, editor

Published
2012
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11. Entzündliche Gelenkerkrankungen

Author

Kiener, H. P., Pilz, I., Dunky, A., Graninger, W., Siegmeth, W., Thumb, N., Ebner, W., Schwägerl, W., Smolen, J., Petera, P., Smolen, J. S., Kolarz, G., Klein, G., Pöllmann, G., Leeb, B. F., Sautner, J., Thumb, Norbert, editor, Bröll, Hans, editor, Czurda, Rainer, editor, Siegmeth, Walter, editor, and Smolen, Josef, editor

Published
2001
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21. A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators

Author

Broen, J. C. A., Bossini-Castillo, L., van Bon, L., Vonk, M. C., Knaapen, H., Beretta, L., Rueda, B., Hesselstrand, R., Herrick, A., Worthington, J., Hunzelman, N., Denton, C. P., Fonseca, C., Riemekasten, G., Kiener, H. P., Scorza, R., Simeón, C. P., Ortego-Centeno, N., Gonzalez-Gay, M. A., Airò, P., Coenen, M. J. H., Martín, J., and Radstake, T. R. D. J.

Published
2012
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22. Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

Author

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, Airoʼ, P, Coenen, M J H, Aliprantis, A, Martin, J, Allanore, Y, and Radstake, T R D J

Published
2011
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23. Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development

Author

Broen, J C A, Gourh, P, Vonk, M C, Beretta, L, Niederer, F, Rueda, B, Geurts-van Bon, L, Brouwer, C, Hesselstrand, R, Herrick, A, Worthington, J, Hunzelman, N, Fonseca, Denton C, Riemekasten, G, Kiener, H, Scorza, R, Simeon, C P, Fonollosa, V, Carreira, P, Ortego-Centeno, N, Gonzalez-Gay, M A, Airoʼ, P, Coenen, M J H, Mayes, M, Kyburz, D, Arnett, F C, Martin, J, and Radstake, T R D J

Published
2011
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35. Inhibition of janus kinases abrogates the IFN γ-induced activation of the focal adhesion kinase

Author

Karonitsch, T, Beckmann, D, Wunrau, C, Dalwigk, K, Niederreiter, B, Holinka, J, Steiner, G, Smolen, J, Pap, T, and Kiener, H

Subjects
musculoskeletal diseases, Fokal adhesion kinase, ddc: 610, Baricitinib, Tofacitinib, Rheumatoid arthritis, 610 Medical sciences, Medicine, skin and connective tissue diseases
Abstract

Background: While evidence implicates both the adaptive and innate immune system in rheumatoid arthritis (RA) pathogenesis, accumulating data indicate that the synovial tissue itself actively participates in the destructive inflammatory process. Specifically, resident fibroblast-like synoviocytes (FLS),[for full text, please go to the a.m. URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)

Published
2016
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38. Characteristics of joint involvement and relationships with systemic inflammation in systemic sclerosis: results from the EULAR Scleroderma Trial and Research Group (EUSTAR) database

Author

Avouac, Jerome, Walker, Ulrich, Tyndall, Alan, Kahan, André, Matucci Cerinic, Marco, Allanore, Yannick, Miniati, I., Müller, A., Iannone, F., Giacomelli, R., Distler, O., Becvar, R., Sierakowsky, S., Kowal Bielecka, O., Coelho, P., Cabane, J., Cutolo, M., Shoenfeld, Y., Rovensky, J., Riemekasten, G., Nicoara, I., Vlachoyiannopoulos, P., Caporali, R., Jiri, S., Inanc, M., Gorska, I. Zimmermann, Carreira, P., Novak, S., Czirjak, L., Ramos, F. Oliveira, Jendro, M., Chizzolini, C., Kucharz, E. J., Richter, J., Cozzi, F., Rozman, B., Mallia, C. M., Gabrielli, A., Farge, D., Kiener, H. P., Schöffel, D., Sticherling, M., Airo, P., Wollheim, F., Martinovic, D., Trotta, F., Hunzelmann, N., Jablonska, S., Reich, K., Bombardieri, S., Siakka, P., Pellerito, R., Bambara, L. M., Morovic Vergles, J., Denton, C., Hinrichs, R., Van Den Hoogen, F., Damjanov, N., Kötter, I., Ortiz, V., Heitmann, S., Krasowska, D., Seidel, M., Hasler, P., Van Laar, J. M., Kaltwasser, J. P., Foeldvari, I., Juan Mas, A., Bajocchi, G., Wislowska, M., Pereira Da Silva, J. A., Jacobsen, S., Worm, M., Graniger, W., Kuhn, A., Stankovic, A., Cossutta, R., Majdan, M., Rajcevska, L. Damjanovska, Tikly, M., Nasonov, E. L., Steinbrink, K., Herrick, A., Müller Ladner, U., Dinc, A., Scorza, R., Sondergaard, K., Indiveri, F., Nielsen, H., Szekanecz, Z., Silver, R. M., Antivalle, M., Espinosa, I. B., García De La Pena Lefebvre, P., Midtvedt, O., Launay, D., Valesini, F., Tuvik, P., Ionescu, R. M., Del Papa, N., Pinto, S., Wigley, F., Mihai, C., Capranu, M. Sinziana, Sunderkötter, C., Jun, J. B., Derk, C., Alhasani, S., Distler, J. H., Ton, E., Soukup, T., Seibold, J., Zeni, S., Nash, P., Mouthon, L., De Keyser, F., Duruöz, M. T., Cantatore, F. P., Strauss, G., Von Mülhen, C. A., Pozzi, M. R., Eyerich, K., Szechinski, J., Keiserman, M., Houssiau, F. A., Rom Ivorra, J. A., Krummel Lorenz, B., Aringer, M., Westhovens, R., Bellisai, F., Mayer, M., Stoeckl, F., Üprus, M., Volpe, A., Buslau, M., Yavuz, S., Granel, B., Feijó, A. Valderílio, Del Galdo, F., Popa, S., Zenone, T., Machado, X. Ricardo, Pileckyte, M., Stebbings, S., Mathieu, A., Tulli, A., Tourinho, T., Souza, R., Acayaba De Toledo, R., Stamp, L., Solanki, K., Veale, D., Neto, J. Francisco Marques, Bagnato, G. F., Loyo, E., Toloza, S., Li, M., Mohamed, W. Ahmed Abdel Atty, Cobankara, V., Olas, J., Salsano, F., Oksel, F., Tanaseanu, C. M., Foti, R., Ancuta, C., Vonk, M., Caramashi, P., Beretta, L., Balbir, A., Shine, B., Chiàla, A., Simic, K. Pasalic, Ghio, M., Stamenkovic, B., Rednic, S., Host, N., Hachulla, E., Furst, D. E., VALENTINI, Gabriele, Avouac, Jerome, Walker, Ulrich, Tyndall, Alan, Kahan, André, Matucci Cerinic, Marco, Allanore, Yannick, Miniati, I., Müller, A., Iannone, F., Giacomelli, R., Distler, O., Becvar, R., Sierakowsky, S., Kowal Bielecka, O., Coelho, P., Cabane, J., Cutolo, M., Shoenfeld, Y., Valentini, Gabriele, Rovensky, J., Riemekasten, G., Nicoara, I., Vlachoyiannopoulos, P., Caporali, R., Jiri, S., Inanc, M., Gorska, I. Zimmermann, Carreira, P., Novak, S., Czirjak, L., Ramos, F. Oliveira, Jendro, M., Chizzolini, C., Kucharz, E. J., Richter, J., Cozzi, F., Rozman, B., Mallia, C. M., Gabrielli, A., Farge, D., Kiener, H. P., Schöffel, D., Sticherling, M., Airo, P., Wollheim, F., Martinovic, D., Trotta, F., Hunzelmann, N., Jablonska, S., Reich, K., Bombardieri, S., Siakka, P., Pellerito, R., Bambara, L. M., Morovic Vergles, J., Denton, C., Hinrichs, R., Van Den Hoogen, F., Damjanov, N., Kötter, I., Ortiz, V., Heitmann, S., Krasowska, D., Seidel, M., Hasler, P., Van Laar, J. M., Kaltwasser, J. P., Foeldvari, I., Juan Mas, A., Bajocchi, G., Wislowska, M., Pereira Da Silva, J. A., Jacobsen, S., Worm, M., Graniger, W., Kuhn, A., Stankovic, A., Cossutta, R., Majdan, M., Rajcevska, L. Damjanovska, Tikly, M., Nasonov, E. L., Steinbrink, K., Herrick, A., Müller Ladner, U., Dinc, A., Scorza, R., Sondergaard, K., Indiveri, F., Nielsen, H., Szekanecz, Z., Silver, R. M., Antivalle, M., Espinosa, I. B., García De La Pena Lefebvre, P., Midtvedt, O., Launay, D., Valesini, F., Tuvik, P., Ionescu, R. M., Del Papa, N., Pinto, S., Wigley, F., Mihai, C., Capranu, M. Sinziana, Sunderkötter, C., Jun, J. B., Derk, C., Alhasani, S., Distler, J. H., Ton, E., Soukup, T., Seibold, J., Zeni, S., Nash, P., Mouthon, L., De Keyser, F., Duruöz, M. T., Cantatore, F. P., Strauss, G., Von Mülhen, C. A., Pozzi, M. R., Eyerich, K., Szechinski, J., Keiserman, M., Houssiau, F. A., Rom Ivorra, J. A., Krummel Lorenz, B., Aringer, M., Westhovens, R., Bellisai, F., Mayer, M., Stoeckl, F., Üprus, M., Volpe, A., Buslau, M., Yavuz, S., Granel, B., Feijó, A. Valderílio, Del Galdo, F., Popa, S., Zenone, T., Machado, X. Ricardo, Pileckyte, M., Stebbings, S., Mathieu, A., Tulli, A., Tourinho, T., Souza, R., Acayaba De Toledo, R., Stamp, L., Solanki, K., Veale, D., Neto, J. Francisco Marque, Bagnato, G. F., Loyo, E., Toloza, S., Li, M., Mohamed, W. Ahmed Abdel Atty, Cobankara, V., Olas, J., Salsano, F., Oksel, F., Tanaseanu, C. M., Foti, R., Ancuta, C., Vonk, M., Caramashi, P., Beretta, L., Balbir, A., Shine, B., Chiàla, A., Simic, K. Pasalic, Ghio, M., Stamenkovic, B., Rednic, S., Host, N., Hachulla, E., Furst, D. E., Chizzolini, Carlo, and Westhovens, Rene

Subjects
Male, Systemic disease, Databases, Factual, Cross-sectional study, Joint Diseases/etiology/pathology/physiopathology, Systemic inflammation, Joint involvement, Scleroderma, systemic sclrosis, systemic inflemmetion, joint involvement, Tendons, Systemic sclerosi, Scleroderma, Localized, 0302 clinical medicine, data base, Immunopathology, joint radiography, Immunology and Allergy, Joints/pathology, scleroderma, 030212 general & internal medicine, nuclear magnetic resonance imaging, Range of Motion, Articular, skin and connective tissue diseases, rheumatic disease, ddc:616, interstitial lung disease, Joint contracture, Clinical Trials as Topic, Synovitis, Inflammation/etiology/pathology/physiopathology, integumentary system, article, Tendons/pathology, Middle Aged, musculoskeletal system, cohort analysis, Connective tissue disease, priority journal, Joint, Synoviti, Systemic sclerosis, Female, medicine.symptom, Joint Diseases, Human, musculoskeletal diseases, Adult, medicine.medical_specialty, hand radiography, Immunology, Scleroderma, Localized/etiology/*pathology, Auto-immunity, transplantation and immunotherapy [N4i 4], 03 medical and health sciences, SYSTEMIC SCLEROSIS, JOINT INVOLVEMENT, SYNOVITIS, JOINT CONTRACTURE, TENDON FRICTION RUB, Tendon friction rub, Rheumatology, Internal medicine, medicine, Humans, Health care ethics [NCEBP 5], Tendon, Aged, 030203 arthritis & rheumatology, Cross-Sectional Studie, Inflammation, skin disease, Scleroderma, Systemic, business.industry, echography, medicine.disease, major clinical study, tenosynovitis, Synovitis/etiology/pathology, clinical feature, body regions, Cross-Sectional Studies, Evaluation of complex medical interventions [NCEBP 2], Scleroderma, Systemic/complications/pathology/physiopathology, Joints, disease duration, business, Joint Disease, disease activity
Abstract

Objective.To determine the prevalence of and independent factors associated with joint involvement in a large population of patients with systemic sclerosis (SSc).Methods.This study was cross-sectional, based on data collected on patients included in the European League Against Rheumatism (EULAR) Scleroderma Trials and Research (EUSTAR) registry. We queried this database to extract data regarding global evaluation of patients with SSc and the presence of any clinical articular involvement: synovitis (tender and swollen joints), tendon friction rubs (rubbing sensation detected as the tendon was moved), and joint contracture (stiffness of the joints that decreased their range of motion). Overall joint involvement was defined by the occurrence of synovitis and/or joint contracture and/or tendon friction rubs.Results.We recruited 7286 patients with SSc; their mean age was 56 ± 14 years, disease duration 10 ± 9 years, and 4210 (58%) had a limited cutaneous disease subset. Frequencies of synovitis, tendon friction rubs, and joint contractures were 16%, 11%, and 31%, respectively. Synovitis, tendon friction rubs, and joint contracture were more prevalent in patients with the diffuse cutaneous subset and were associated together and with severe vascular, muscular, renal, and interstitial lung involvement. Moreover, synovitis had the highest strength of association with elevated acute-phase reactants taken as the dependent variable.Conclusion.Our results highlight the striking level of articular involvement in SSc, as evaluated by systematic examination in a large cohort of patients with SSc. Our data also show that synovitis, joint contracture, and tendon friction rubs are associated with a more severe disease and with systemic inflammation.

Published
2010
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40. Nailfold Videocapillaroscopic Features and Other Clinical Risk Factors for Digital Ulcers in Systemic Sclerosis: A Multicenter, Prospective Cohort Study

Author

Cutolo, Maurizio, Herrick, Ariane L., Distler, Oliver, Becker, Mike O., Beltran, Emma, Carpentier, Patrick, Ferri, Clodoveo, Inanç, Murat, Vlachoyiannopoulos, Panayioti, Chadha Boreham, Harbajan, Cottreel, Emmanuelle, Pfister, Thoma, Rosenberg, Daniel, Torres, Juan V., Smith, Vanessa, Becker, Mike, Erlacher, L., Hirschl, M., Kiener, H. P., Pilger, E., Smith, V., Blockmans, D., Wautrecht, J. C., Becvár, R., Carpentier, P., Frances, C., Lok, C., Sparsa, A., Hachulla, E., Quere, I., Allanore, Y., Agard, C., Riemekasten, G., Hunzelmann, N., Stücker, M., Ahmadi Simab, K., Sunderkötter, C., Wohlrab, J., Müller Ladner, U., Schneider, M., Vlachoyianopoulos, P., Vassilopoulos, D., Drosos, A., Antonopoulos, A., Balbir Gurman, A., Langevitz, P., Rosner, I., Levy, Y., Cutolo, M., Bombardieri, S., Ferraccioli, Gianfranco, Mazzuca, S., Grassi, W., Lunardi, C., Airó, P., Riccieri, V., Voskuyl, A. E., Schuerwegh, A., Santos, L., Rodrigues, A. C., Grilo, A., Amaral, M. C., Román Ivorra, J. A., Castellvi, I., Distler, O., Spertini, F., Müller, R., Inanç, M., Oksel, F., Turkcapar, N., Herrick, A., Denton, C., Mchugh, N., Chattopadhyay, C., Hall, F., Buch, M., Ferraccioli, Gianfranco (ORCID:0000-0001-6246-2428), Cutolo, Maurizio, Herrick, Ariane L., Distler, Oliver, Becker, Mike O., Beltran, Emma, Carpentier, Patrick, Ferri, Clodoveo, Inanç, Murat, Vlachoyiannopoulos, Panayioti, Chadha Boreham, Harbajan, Cottreel, Emmanuelle, Pfister, Thoma, Rosenberg, Daniel, Torres, Juan V., Smith, Vanessa, Becker, Mike, Erlacher, L., Hirschl, M., Kiener, H. P., Pilger, E., Smith, V., Blockmans, D., Wautrecht, J. C., Becvár, R., Carpentier, P., Frances, C., Lok, C., Sparsa, A., Hachulla, E., Quere, I., Allanore, Y., Agard, C., Riemekasten, G., Hunzelmann, N., Stücker, M., Ahmadi Simab, K., Sunderkötter, C., Wohlrab, J., Müller Ladner, U., Schneider, M., Vlachoyianopoulos, P., Vassilopoulos, D., Drosos, A., Antonopoulos, A., Balbir Gurman, A., Langevitz, P., Rosner, I., Levy, Y., Cutolo, M., Bombardieri, S., Ferraccioli, Gianfranco, Mazzuca, S., Grassi, W., Lunardi, C., Airó, P., Riccieri, V., Voskuyl, A. E., Schuerwegh, A., Santos, L., Rodrigues, A. C., Grilo, A., Amaral, M. C., Román Ivorra, J. A., Castellvi, I., Distler, O., Spertini, F., Müller, R., Inanç, M., Oksel, F., Turkcapar, N., Herrick, A., Denton, C., Mchugh, N., Chattopadhyay, C., Hall, F., Buch, M., and Ferraccioli, Gianfranco (ORCID:0000-0001-6246-2428)

Abstract

Objective: To identify nailfold videocapillaroscopic features and other clinical risk factors for new digital ulcers (DUs) during a 6-month period in patients with systemic sclerosis (SSc). Methods: In this multicenter, prospective, observational cohort study, the videoCAPillaroscopy (CAP) study, we evaluated 623 patients with SSc from 59 centers (14 countries). Patients were stratified into 2 groups: a DU history group and a no DU history group. At enrollment, patients underwent detailed nailfold videocapillaroscopic evaluation and assessment of demographic characteristics, DU status, and clinical and SSc characteristics. Risk factors for developing new DUs were assessed using univariable and multivariable logistic regression (MLR) analyses. Results: Of the 468 patients in the DU history group (mean ± SD age 54.0 ± 13.7 years), 79.5% were female, 59.8% had limited cutaneous SSc, and 22% developed a new DU during follow-up. The strongest risk factors for new DUs identified by MLR in the DU history group included the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs (categorized as 0, 1, 2, or ≥3), and the presence of critical digital ischemia. The receiver operating characteristic (ROC) of the area under the curve (AUC) of the final MLR model was 0.738 (95% confidence interval [95% CI] 0.681–0.795). Internal validation through bootstrap generated a ROC AUC of 0.633 (95% CI 0.510–0.756). Conclusion: This international prospective study, which included detailed nailfold videocapillaroscopic evaluation and extensive clinical characterization of patients with SSc, identified the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs at enrollment, and the presence of critical digital ischemia at enrollment as risk factors for the development of new DUs.

Published
2016

43. Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

Author

Broen, J.C., Dieude, P., Vonk, M.C., Beretta, L., Carmona, F.D., Herrick, A., Worthington, J., Hunzelmann, N., Riemekasten, G., Kiener, H., Scorza, R., Simeon, C.P., Fonollosa, V., Spanish Systemic Sclerosis, G., Carreira, P., Ortego-Centeno, N., Gonzalez-Gay, M.A., Airo, P., Coenen, M.J., Tsang, K., Aliprantis, A.O., Martin, J., Allanore, Y., and Radstake, T.R.

Subjects
Adult, Myeloid, Genotype, Immunology, Gene Expression, Single-nucleotide polymorphism, Rheumatology, Gene expression, Immunology and Allergy, Medicine, SNP, Humans, Genetic Predisposition to Disease, Receptor, skin and connective tissue diseases, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Interleukin 4, Aged, Interleukin-13, Polymorphism, Genetic, Scleroderma, Systemic, business.industry, Receptors, Interleukin-13, Interleukin-4 Receptor alpha Subunit, Middle Aged, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Europe, medicine.anatomical_structure, Interleukin 13, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Female, Interleukin-4, business
Abstract

Objective.Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes.Methods.We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (−590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and −1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc.Results.None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications.Conclusion.Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells.

Published
2012

44. Corrigendum: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Author

Radstake, T.R.D.J., Gorlova, O., Rueda, B., Martin, J.E., Alizadeh, B.Z., Palomino-Morales, R., Coenen, M., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J., Broen, J.C.A., Riel, P.L.C.M. van, Slot, R. van 't, Italiaander, A., Ophoff, R.A., Riemekasten, G., Hunzelmann, N., Simeon, C.P., Ortego-Centeno, N., Gonzalez-Gay, M.A., Gonzalez-Escribano, M.F., Airo, P., Laar, J. van, Herrick, A., Worthington, J., Hesselstrand, R., Smith, V., Keyser, F. de, Houssiau, F., Chee, M.M., Madhok, R., Shiels, P., Westhovens, R., Kreuter, A., Kiener, H., Baere, E. de, Witte, T.J.M. de, Padykov, L., Klareskog, L., Beretta, L., Scorza, R., Lie, B.A., Hoffmann-Vold, A.M., Carreira, P., Varga, J., Hinchcliff, M., Gregersen, P.K., Lee, A.T., Ying, J., Han, Y., Weng, S.F., Amos, C.I., Wigley, F.M., Hummers, L., Nelson, J.L., Agarwal, S.K., Assassi, S., Gourh, P., Tan, F.K., Koeleman, B.P., Arnett, F.C., Martin, J., and Mayes, M.D.

Subjects
Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1]
Abstract

Contains fulltext : 97765.pdf (Publisher’s version ) (Closed access) 01 mei 2010

Published
2011

45. Common German language nomenclature for systemic sclerosis

Author

Aringer, M., Mueller-Ladner, U., Burkhardt, H., Distler, J. H. W., Distler, O., Graninger, W. B., Guenther, C., Hunzelmann, N., Kiener, H., Sticherling, M., Sunderkoetter, C., Walker, U. A., Riemekasten, G., Aringer, M., Mueller-Ladner, U., Burkhardt, H., Distler, J. H. W., Distler, O., Graninger, W. B., Guenther, C., Hunzelmann, N., Kiener, H., Sticherling, M., Sunderkoetter, C., Walker, U. A., and Riemekasten, G.

Abstract

Large data bases and the projects arising from them have led to a much improved understanding of systemic sclerosis over the last decade. Serology has developed further so that more autoantibodies are available for routine testing. Capillary microscopy has become standard and relevant progress has also been made in therapy. Many diagnostic terms found in medical documentation do not adequately reflect this progress. The nomenclature is inconsistent and, therefore, confusing. The international classification of diseases (ICD) nomenclature is, from our point of view, also in need of improvement. This article aims to reestablish a common German language standard for systemic sclerosis, which reflects current knowledge and is suitable for implementation in the clinical routine.

Published
2015

47. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Author

Radstake, T.R.D.J., Gorlova, O., Rueda, B., Martin, J.E., Alizadeh, B.Z., Palomino-Morales, R., Coenen, M.J., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J., Broen, J.C., Riel, P.L.C.M. van, van't Slot, R., Italiaander, A., Ophoff, R.A., Riemekasten, G., Hunzelmann, N., Simeon, C.P., Ortego-Centeno, N., Gonzalez-Gay, M.A., Gonzalez-Escribano, M.F., Airo, P., Laar, J. van, Herrick, A., Worthington, J., Hesselstrand, R., Smith, V., Keyser, F. de, Houssiau, F., Chee, M.M., Madhok, R., Shiels, P., Westhovens, R., Kreuter, A., Kiener, H., Baere, E. de, Witte, T., Padykov, L., Klareskog, L., Beretta, L., Scorza, R., Lie, B.A., Hoffmann-Vold, A.M., Carreira, P., Varga, J., Hinchcliff, M., Gregersen, P.K., Lee, A.T., Ying, J., Han, Y., Weng, S.F., Amos, C.I., Wigley, F.M., Hummers, L., Nelson, J.L., Agarwal, S.K., Assassi, S., Gourh, P., Tan, F.K., Koeleman, B.P.C., Arnett, F.C., Martin, J., Mayes, M.D., and Spanish Scleroderma Grp

Subjects
cd4 t-cells lupus-erythematosus functional polymorphism japanese population cd3-zeta expression complex risk scleroderma mechanisms phenotype
Abstract

Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.

Published
2010

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