47 results on '"Camps MT"'
Search Results
2. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
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Rueda, B, Broen, J, Simeon, C, Hesselstrand, R, Diaz, B, Suárez, H, Ortego-Centeno, N, Riemekasten, G, Fonollosa, V, Vonk, MC, van den Hoogen, FHJ, Sanchez-Román, J, Aguirre-Zamorano, MA, García-Portales, R, Pros, A, Camps, MT, Gonzalez-Gay, MA, Coenen, MJH, Airo, P, Beretta, L, Scorza, R, van Laar, J, Gonzalez-Escribano, MF, Nelson, JL, Radstake, TRDJ, and Martin, J
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- 2009
3. KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor
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Bossini Castillo, L, Simeon, Cp, Beretta, L, Broen, J, Vonk, Mc, Callejas, Jl, Carreira, P, Rodriguez Rodriguez, L, Garcia Portales, R, Gonzalez Gay MA, Castellvi, I, Camps, Mt, Tolosa, C, Vicente Rabaneda, E, Egurbide, Mv, Ssg, Ss, Schuerwegh, Aj, Hesselstrand, R, Lunardi, Claudio, van Laar JM, Shiels, P, Herrick, A, Worthington, J, Denton, C, Radstake, Tr, Fonseca, C, and Martin, J.
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medicine.medical_specialty ,Pathology ,Linkage disequilibrium ,Genotype ,systemic sclerosis ,Hypertension, Pulmonary ,Immunology ,Population ,Polymorphism, Single Nucleotide ,Gastroenterology ,Linkage Disequilibrium ,White People ,Cohort Studies ,Kv1.5 Potassium Channel ,Gene Frequency ,Rheumatology ,pulmonary arterial hypertension ,Internal medicine ,Odds Ratio ,medicine ,Humans ,Immunology and Allergy ,SNP ,Genetic Predisposition to Disease ,Potassium voltage-gated channel shaker-related subfamily member 5 ,education ,skin and connective tissue diseases ,Allele frequency ,Netherlands ,Rheumatology and Autoimmunity ,Sweden ,education.field_of_study ,Scleroderma, Systemic ,integumentary system ,business.industry ,Autoantibody ,Odds ratio ,medicine.disease ,Pulmonary hypertension ,United Kingdom ,Italy ,Spain ,Genetic marker ,business ,Research Article - Abstract
Introduction Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction. Recently, a protective association of the KCNA5 locus with systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH) was reported. Hence, the aim of this study was to replicate these findings in an independent multicenter Caucasian SSc cohort. Methods The 2,343 SSc cases (179 PAH positive, confirmed by right-heart catheterization) and 2,690 matched healthy controls from five European countries were included in this study. Rs10744676 single-nucleotide polymorphism (SNP) was genotyped by using a TaqMan SNP genotyping assay. Results Individual population analyses of the selected KCNA5 genetic variant did not show significant association with SSc or any of the defined subsets (for example, limited cutaneous SSc, diffuse cutaneous SSc, anti-centromere autoantibody positive and anti-topoisomerase autoantibody positive). Furthermore, pooled analyses revealed no significant evidence of association with the disease or any of the subsets, not even the PAH-positive group. The comparison of PAH-positive patients with PAH-negative patients showed no significant differences among patients. Conclusions Our data do not support an important role of KCNA5 as an SSc-susceptibility factor or as a PAH-development genetic marker for SSc patients., This work was supported by the following grants: JM was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain, and by Fondo Europeo de Desarrollo Regional (FEDER). TRDJR was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). JM and TRDJR were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). BPCK is supported by the Dutch Diabetes Research Foundation (grant 2008.40.001) and the Dutch Arthritis Foundation (Reumafonds, grant NR 09-1-408). This study was also funded by PI-0590-2010, Consejería de Salud, Junta de Andalucía, Spain.
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- 2012
4. MORBIDITY AND MORTALITY IN THE ANTIPHOSPHOLIPID SYNDROME DURING A 5-YEAR PERIOD: A MULTICENTER PROSPECTIVE STUDY OF 1,000 PATIENTS
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Cervera, R, Khamashta, Ma, Shoenfeld, Y, Camps, Mt, Jacobsen, S, Kiss, E, Zeher, Mm, Tincani, Angela, KONTOPOULOU GRIVA, I, Galeazzi, M, Bellisai, F, Meroni, Pl, Derksen, Rh, DE GROOT PG, GROMNICA IHLE, E, Baleva, M, Mosca, M, Bombardieri, S, Houssiau, F, Gris, Jc, Quéré, I, Hachulla, E, Vasconcelos, C, Roch, B, FERNANDEZ NEBRO, A, Piette, Jc, Espinosa, G, Bucciarelli, S, Pisoni, Cn, Bertolaccini, Ml, Boffa, Mc, and Hughes, Gr
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- 2009
5. Euro-Phospholipid Project Group (European Forum on Antiphospholipid Antibodies). Morbidity and mortality in the antiphospholipid syndrome during a 5-year period: a multicentre prospective study of 1000 patients
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Cervera, R, Khamashta, Ma, Shoenfeld, Y, Camps, Mt, Jacobsen, S, Kiss, E, Zeher, Mm, Tincani, A, KONTOPOULOU GRIVA, I, Galeazzi, M, Bellisai, F, Meroni, Pl, Derksen, Rh, Groot, Pg, GROMNICA IHLE, E, Baleva, M, Mosca, Marta, Bombardieri, S, Houssiau, F, Gris, Jc, Quéré, I, Hachulla, E, Vasconcelos, C, Roch, B, FERNÁNDEZ NEBRO, A, Piette, Jc, Espinosa, G, Bucciarelli, S, Pisoni, Cn, Bertolaccini, Ml, Boffa, Mc, and Hughes, Gr
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- 2009
6. European Working Party on Systemic Lupus Erythematosus. Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the 'Euro-Lupus Project'
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Cervera, R, ABARCA COSTALAGO, M, Abramovicz, D, Allegri, F, Annunziata, P, Aydintug, Ao, Bacarelli, Mr, Bellisai, F, Bernardino, I, BIERNAT KALUZA, E, Blockmans, D, Boki, K, Bracci, L, Campanella, V, Camps, Mt, Carcassi, C, Cattaneo, Roberto, Cauli, A, CHWALINSKA SADOWSKA, H, Contu, L, Cosyns, Jp, Danieli, Mg, Dcruz, D, Depresseux, G, Direskeneli, H, Domènech, I, Espinosa, G, FERNÁNDEZ NEBRO, A, Ferrara, Gb, Font, J, Frutos, Ma, Galeazzi, M, GARCÌA CARRASCO, M, GARCÍA IGLESIAS MF, GARCÍA TOBARUELA, A, George, J, Gil, A, GONZÁLEZ SANTOS, P, Grana, M, Gül, A, Haga, Hj, DE HARO LIGER, M, Houssiau, F, Hughes, Gr, Ingelmo, M, JEDRYKA GÓRAL, A, Khamashta, Ma, Lavilla, P, Levi, Y, LÓPEZ DULPA, M, LÓPEZ SOTO, A, Maldykowa, H, Marcolongo, R, Mathieu, A, Morozzi, G, Nicolopoulou, N, Papasteriades, C, Passiu, G, Perelló, I, Petera, P, Petrovic, R, Piette, Jc, Pintado, V, DE PITA, O, Popovic, R, Pucci, G, Puddu, P, DE RAMÓN, E, RAMOS CASALS, M, RODRÍGUEZ ANDREU, J, RUIZ IRASTORZA, G, SANCHEZ LORA, J, Sanna, G, Scorza, R, Sebastiani, Gd, Sherer, Y, Shoenfeld, Y, Simpatico, A, Sinico, Ra, Smolen, J, Tincani, Angela, Tokgöz, G, URBANO MÁRQUEZ, A, Vasconcelos, C, Vázquez, Jj, Veronesi, J, Vianna, J, and Vivancos, J.
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- 2006
7. Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the 'Euro-Lupus Project'
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Cervera, R, ABARCA-COSTALAGO, M, Abramovicz, D, Allegri, F, Annunziata, P, Aydintug, Ao, Bacarelli, Mr, Bellisai, F, Bernardino, I, BIERNAT-KALUZA, E, Blockmans, D, Boki, K, Bracci, L, Campanella, V, Camps, Mt, Carcassi, C, Cattaneo, R, Cauli, A, CHWALINSKA-SADOWSKA, H, Contu, L, Cosyns, Jp, Danieli, Mg, Dcruz, D, Depresseux, G, Direskeneli, H, Domenech, I, Espinosa, G, FERNANDEZ-NEBRO, A, Ferrara, Gb, Font, J, Frutos, Ma, Galeazzi, M., GARCIA-CARRASCO, M, GARCIA IGLESIAS MF, GARCIA-TOBARUELA, A, George, J, Gil, A, GONZALEZ-SANTOS, P, Grana, M, Gul, A, Haga, Hj, DE HARO-LIGER, M, Houssiau, F, Hughes, Gr, Ingelmo, M, JEDRYKA-GORAL, A, Khamashta, Ma, Lavilla, P, Levi, Y, LOPEZ-DULPA, M, LOPEZ-SOTO, A, Maldykowa, H, Marcolongo, R, Mathieu, A, Morozzi, G, Nicolopoulou, N, Papasteriades, C, Passiu, G, Perello, I, Petera, P, Petrovic, R, Piette, Jc, Pintado, V, DE PITA, O, Popovic, R, Pucci, G, Puddu, P, DE RAMON, E, RAMOS-CASALS, M, RODRIGUEZ-ANDREU, J, RUIZ-IRASTORZA, G, SANCHEZ-LORA, J, Sanna, G, Scorza, R, Sebastiani, Gd, Sherer, Y, Shoenfeld, Y, Simpatico, A, Sinico, Ra, Smolen, J, Tincani, A, Tokgoz, G, URBANO-MARQUEZ, A, Vasconcelos, C, Vazquez, Jj, Veronesi, J, Vianna, J, Vivancos, J, UCL - MD/MINT - Département de médecine interne, UCL - (SLuc) Service de rhumatologie, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique, Cervera, R, Abarca Costalago, M, Abramovicz, D, Allegri, F, Annunziata, P, Aydintug, A, Bacarelli, M, Bellisai, F, Bernardino, I, Biernat Kaluza, E, Blockmans, D, Boki, K, Bracci, L, Campanella, V, Camps, M, Carcassi, C, Cattaneo, R, Cauli, A, Chwalinska Sadowska, H, Contu, L, Cosyns, J, Danieli, M, D́cruz, D, Depresseux, G, Direskeneli, H, Domènech, I, Espinosa, G, Fernández Nebro, A, Ferrara, G, Font, J, Frutos, M, Galeazzi, M, García Carrasco, M, García Iglesias, M, García Tobaruela, A, George, J, Gil, A, González Santos, P, Grana, M, Gül, A, Haga, H, de Haro Liger, M, Houssiau, F, Hughes, G, Ingelmo, M, Jedryka Góral, A, Khamashta, M, Lavilla, P, Levi, Y, López Dupla, M, López Soto, A, Maldykowa, H, Marcolongo, R, Mathieu, A, Morozzi, G, Nicolopoulou, N, Papasteriades, C, Passiu, G, Perelló, I, Petera, P, Petrovic, R, Piette, J, Pintado, V, de Pita, O, Popovic, R, Pucci, G, Puddu, P, de Ramón, E, Ramos Casals, M, Rodríguez Andreu, J, Ruiz Irastorza, G, Sánchez Lora, J, Sanna, G, Scorza, R, Sebastiani, G, Sherer, Y, Shoenfeld, Y, Simpatico, A, Sinico, R, Smolen, J, Tincani, A, Tokgöz, G, Urbano Márquez, A, Vasconcelos, C, Vázquez, J, Veronesi, M, Vianna, J, and Vivancos, J
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Male ,medicine.medical_specialty ,Prognosi ,Epidemiology ,Immunology ,Systemic lupus erythematosu ,Disease ,Prognostic factors ,Autoimmune Disease ,Follow-Up Studie ,Autoimmune Diseases ,Cohort Studies ,Systemic lupus erythematosus ,immune system diseases ,medicine ,Immunology and Allergy ,Humans ,Lupus Erythematosus, Systemic ,Prospective Studies ,Age of Onset ,Mortality ,Prospective cohort study ,skin and connective tissue diseases ,Survival rate ,Prognostic factor ,business.industry ,medicine.disease ,Prognosis ,Europe ,Survival Rate ,Prospective Studie ,Family medicine ,Antibodies, Antinuclear ,Cohort ,Female ,Cohort Studie ,Age of onset ,Morbidity ,business ,Human ,Cohort study ,Follow-Up Studies - Abstract
The "Euro-Lupus Cohort" is composed by 1000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium-the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The "Euro-Lupus Cohort" provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors. © 2005 Elsevier B.V. All rights reserved.
- Published
- 2006
8. Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1,000 patients
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Cervera, R, Piette, Jc, Font, J, Khamashta, Ma, Shoenfeld, Y, Camps, Mt, Jacobsen, S, Lakos, G, Tincani, Angela, Kontopoulou Griva, I, Galeazzi, M, Meroni, Pl, Derksen, Rh, de Groot PG, Gromnica Ihle, E, Baleva, M, Mosca, M, Bombardieri, S, Houssiau, F, Gris, Jc, Quere, I, Hachulla, E, Vasconcelos, C, Roch, B, Fernandez Nebro, A, Boffa, Mc, Hughes, Gr, and Ingelmo, M.
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Adult ,Aged, 80 and over ,Male ,Adolescent ,Lupus Vasculitis, Central Nervous System ,Infant, Newborn ,Infant ,Middle Aged ,Antiphospholipid Syndrome ,Cohort Studies ,Diagnosis, Differential ,Age Distribution ,Child, Preschool ,Prevalence ,Humans ,Female ,Sex Distribution ,Child ,Aged ,Autoantibodies - Abstract
To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.The clinical and serologic features of APS (Sapporo preliminary criteria) in 1,000 patients from 13 European countries were analyzed using a computerized database.The cohort consisted of 820 female patients (82.0%) and 180 male patients (18.0%) with a mean +/- SD age of 42 +/- 14 years at study entry. "Primary" APS was present in 53.1% of the patients; APS was associated with systemic lupus erythematosus (SLE) in 36.2%, with lupus-like syndrome in 5.0%, and with other diseases in 5.9%. A variety of thrombotic manifestations affecting the majority of organs were recorded. A catastrophic APS occurred in 0.8% of the patients. Patients with APS associated with SLE had more episodes of arthritis and livedo reticularis, and more frequently exhibited thrombocytopenia and leukopenia. Female patients had a higher frequency of arthritis, livedo reticularis, and migraine. Male patients had a higher frequency of myocardial infarction, epilepsy, and arterial thrombosis in the lower legs and feet. In 28 patients (2.8%), disease onset occurred before age 15; these patients had more episodes of chorea and jugular vein thrombosis than the remaining patients. In 127 patients (12.7%), disease onset occurred after age 50; most of these patients were men. These patients had a higher frequency of stroke and angina pectoris, but a lower frequency of livedo reticularis, than the remaining patients.APS may affect any organ of the body and display a broad spectrum of manifestations. An association with SLE, the patient's sex, and the patient's age at disease onset can modify the disease expression and define specific subsets of APS.
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- 2002
9. European Working Party on Systemic Lupus Erythematosus. Lessons from the 'Euro-Lupus Cohort'
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Cervera, R, ABARCA COSTALAGO, M, Abramovicz, D, Allegri, F, Annunziata, P, Aydintug, Ao, Bacarelli, Mr, Bellisai, F, Bernardino, I, BIERNAT KALUZA, E, Blockmans, D, Boki, K, Bracci, L, Campanella, V, Camps, Mt, Carcassi, C, Cattaneo, Roberto, Cauli, A, CHWALINSKA SADOWSKA, H, Contu, L, Cosyns, Jp, Danieli, Mg, D'Cruz, D, Depresseux, G, Direskeneli, H, Domènech, I, Espinosa, G, FERNÁNDEZ NEBRO, A, Ferrara, Gb, Font, J, Frutos, Ma, Galeazzi, M, GARCÍA CARRASCO, M, GARCÍA IGLESIAS MF, GARCÍA TOBARUELA, A, George, J, Gil, A, GONZÁLEZ SANTOS, P, Grana, M, Gül, A, Haga, Hj, DE HARO LIGER, M, Houssiau, F, Hughes, Gr, Ingelmo, M, JEDRYKA GÓRAL, A, Khamashta, Ma, Lavilla, P, Levi, Y, LÓPEZ DUPLA, M, LÓPEZ SOTO, A, Maldykowa, H, Marcolongo, R, Mathieu, A, Morozzi, G, Nicolopoulou, N, Papasteriades, C, Passiu, G, Perelló, I, Petera, P, Petrovic, R, Piette, Jc, Pintado, V, DE PITA, O, Popovic, R, Pucci, G, Puddu, P, DE RAMÓN, E, RAMOS CASALS, M, RODRÍGUEZ ANDREU, J, RUIZ IRASTROZA, G, SÁNCHEZ LORA, J, Sanna, G, Scorza, R, Sebastini, Gd, Sherer, Y, Shoenfeld, Y, Simpatico, A, Sinico, Ra, Smolen, J, Tincani, Angela, Tokgöz, G, URBANO MÁRQUEZ, A, Vasconcelos, C, Vázquez, Jj, Veronesi, M, Vianni, J, and Vivancos, J.
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- 2002
10. Lessons from the 'Euro-Lupus Cohort'
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Cervera, R., Abarca Costalago, M., Abramovicz, D., Allegri, F., PASQUALE ANNUNZIATA, Aydintug, Ao, Bacarelli, Mr, Bellisai, F., Bernardino, I., Biernat Kaluza, E., Blockmans, D., Boki, K., LUISA BRACCI, Campanella, V., Camps, Mt, Carcassi, C., Cattaneo, R., Cauli, A., Chwalinska Sadowska, H., Contu, L., Cosyns, Jp, Danieli, Mg, D Cruz, D., Depresseux, G., Direskeneli, H., Domènech, I., Espinosa, G., Fernández Nebro, A., Ferrara, Gb, Font, J., Frutos, Ma, MAURO GALEAZZI, García Carrasco, M., GARCÍA IGLESIAS MF, García Tobaruela, A., George, J., Gil, A., González Santos, P., Grana, M., Gül, A., Haga, Hj, Haro Liger, M., Houssiau, F., Hughes, Gr, Ingelmo, M., Jedryka Góral, A., Khamashta, Ma, Lavilla, P., Levi, Y., López Dupla, M., López Soto, A., Maldykowa, H., Marcolongo, R., Mathieu, A., GABRIELLA MOROZZI, Nicolopoulou, N., Papasteriades, C., Passiu, G., Perelló, I., Petera, P., Petrovic, R., Piette, Jc, Pintado, V., Pita, O., Popovic, R., Pucci, G., Puddu, P., Ramón, E., Ramos Casals, M., Rodríguez Andreu, J., Ruiz Irastroza, G., Sánchez Lora, J., Sanna, G., Scorza, R., Sebastini, Gd, Sherer, Y., Shoenfeld, Y., Simpatico, A., Sinico, Ra, Smolen, J., Tincani, A., Tokgöz, G., Urbano Márquez, A., Vasconcelos, C., Vázquez, Jj, Veronesi, M., Vianni, J., Vivancos, J., EUROPEAN WORKING PARTY ON SYSTEMIC LUPUS ERYTHEMATOSUS, Cervera, R, Abarca Costalago, M, Abramovicz, D, Allegri, F, Annunziata, P, Aydintug, A, Bacarelli, M, Bellisai, F, Bernardino, I, Biernat Kaluza, E, Blockmans, D, Boki, K, Bracci, L, Campanella, V, Camps, M, Carcassi, C, Cattaneo, R, Cauli, A, Chwalinska Sadowska, H, Contu, L, Cosyns, J, Danieli, M, D'Cruz, D, Depresseux, G, Direskeneli, H, Domènech, I, Espinosa, G, Fernández Nebro, A, Ferrara, G, Font, J, Frutos, M, Galeazzi, M, García Carrasco, M, García Iglesias, M, García Tobaruela, A, George, J, Gil, A, González Santos, P, Grana, M, Gül, A, Haga, H, de Haro Liger, M, Houssiau, F, Hughes, G, Ingelmo, M, Jedryka Góral, A, Khamashta, M, Lavilla, P, Levi, Y, López Dupla, M, López Soto, A, Maldykowa, H, Marcolongo, R, Mathieu, A, Morozzi, G, Nicolopoulou, N, Papasteriades, C, Passiu, G, Perelló, I, Petera, P, Petrovic, R, Piette, J, Pintado, V, de Pita, O, Popovic, R, Pucci, G, Puddu, P, de Ramón, E, Ramos Casals, M, Rodríguez Andreu, J, Ruiz Irastroza, G, Sánchez Lora, J, Sanna, G, Scorza, R, Sebastini, G, Sherer, Y, Shoenfeld, Y, Simpatico, A, Sinico, R, Smolen, J, Tincani, A, Tokgöz, G, Urbano Márquez, A, Vasconcelos, C, Vázquez, J, Veronesi, M, Vianni, J, and Vivancos, J
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Adult ,Male ,Adolescent ,Prognosi ,Middle Aged ,Prognosis ,Cohort Studies ,Europe ,Survival Rate ,Prospective Studie ,Antibodies, Antinuclear ,Humans ,Lupus Erythematosus, Systemic ,Female ,Prospective Studies ,Cohort Studie ,Age of Onset ,Human - Abstract
The "Euro-Lupus Cohort" is composed by 1,000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium - the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The "Euro-Lupus Cohort" provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors.
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- 2002
11. 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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12. Association between HLA class II antigens and primary antiphospholipid syndrome from the South of Spain
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Camps, MT, primary, Cuadrado, MJ, additional, Ocón, P., additional, Alonso, A., additional, Gutierrez, A., additional, Guil, M., additional, Grana, MI, additional, and de Ramón, E., additional
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- 1995
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13. Primary Sjögren syndrome in Spain: clinical and immunologic expression in 1010 patients.
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Ramos-Casals M, Solans R, Rosas J, Camps MT, Gil A, Pino-Montes J, Calvo-Alen J, Jiménez-Alonso J, Micó ML, Beltrán J, Belenguer R, Pallarés L, Ramos-Casals, Manuel, Solans, Roser, Rosas, Jose, Camps, María Teresa, Gil, Antonio, Del Pino-Montes, Javier, Calvo-Alen, Jaime, and Jiménez-Alonso, Juan
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- 2008
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14. Long-term follow-up in 128 patients with primary antiphospholipid syndrome: do they develop lupus?
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Gómez-Puerta JA, Martín H, Amigo M, Aguirre MA, Camps MT, Cuadrado MJ, Hughes GRV, Khamashta MA, Gómez-Puerta, José A, Martín, Helena, Amigo, Mary-Carmen, Aguirre, Maria A, Camps, Maria T, Cuadrado, Maria J, Hughes, Graham R V, and Khamashta, Munther A
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- 2005
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15. Antiphospholipid, anti-β2-glycoprotein-I and anti-oxidized-low-density-lipoprotein antibodies in antiphospholipid syndrome.
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Cuadrado, MJ, Tinahones, F, Camps, MT, De Ramon, E, Gómez-Zumaquero, JM, Mujic, F, Khamashta, MA, and Hughes, GRV
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- 1998
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16. A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype.
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Rueda B, Simeon C, Hesselstrand R, Herrick A, Worthington J, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Gonzalez-Escribano MF, Coenen MJ, Lambert N, and Nelson JL
- Abstract
Objective: To conduct a replication study to investigate whether the -945 CTGF genetic variant is associated with systemic sclerosis (SSc) susceptibility or specific SSc phenotype.Methods: The study population comprised 1180 patients with SSc and 1784 healthy controls from seven independent case-control sets of European ancestry (Spanish, French, Dutch, German, British, Swedish and North American). The -945 CTGF genetic variant was genotyped using a Taqman 5' allelic discrimination assay.Results: An independent association study showed in all the case-control cohorts no association of the CTGF -945 polymorphism with SSc susceptibility. These findings were confirmed by a meta-analysis giving a pooled OR = 1.12 (95% CI 0.99 to 1.25), p = 0.06. Investigation of the possible contribution of the -945 CTGF genetic variant to SSc phenotype showed that stratification according to SSc subtypes (limited or diffuse), selective autoantibodies (anti-topoisomerase I or anticentromere) or pulmonary involvement reached no statistically significant skewing.Conclusion: The results do not confirm previous findings and suggest that the CTGF -945 promoter polymorphism does not play a major role in SSc susceptibility or clinical phenotype. [ABSTRACT FROM AUTHOR]- Published
- 2009
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17. Antiphospholipid syndrome (APS): Patterns of disease expression in a cohort of 1,000 patients
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Cervera, R., Piette, Jc, Font, J., Khamashta, Ma, Shoenfeld, Y., Camps, Mt, Jacobsen, S., Lakos, G., Tincani, A., Kontopoulo-Griva, I., Galeazzi, M., Meroni, Pl, Derksen, Rhwm, Groot, Fg, Gromnica-Ihie, E., Baleva, M., Bombardieri, S., Houssiau, F., Gris, Jc, Isabelle Quere, Hachulla, E., Vasconcelos, C., Roch, B., Fernandez-Nebro, A., Boffa, M., Hughes, Grvc, and Ingelmo, M.
18. Antiphospholipid, anti-beta 2-glycoprotein-I and anti-oxidized-low- density-lipoprotein antibodies in antiphospholipid syndrome
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Cuadrado, MJ, Tinahones, F, Camps, MT, de Ramon, E, Gomez-Zumaquero, JM, Mujic, F, Khamashta, MA, and Hughes, GR
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- 1998
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19. The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis
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F David Carmona, Jose-Ezequiel Martin, Lorenzo Beretta, Carmen P Simeón, Patricia E Carreira, José Luis Callejas, Mónica Fernández-Castro, Luis Sáez-Comet, Emma Beltrán, María Teresa Camps, María Victoria Egurbide, Spanish Scleroderma Group, Paolo Airó, Raffaella Scorza, Claudio Lunardi, Nicolas Hunzelmann, Gabriela Riemekasten, Torsten Witte, Alexander Kreuter, Jörg H W Distler, Rajan Madhok, Paul Shiels, Jacob M van Laar, Carmen Fonseca, Christopher Denton, Ariane Herrick, Jane Worthington, Annemie J Schuerwegh, Madelon C Vonk, Alexandre E Voskuyl, Timothy R D J Radstake, Javier Martín, Rheumatology, CCA - Disease profiling, The Spanish Scleroderma Group, [Carmona,FD, Martín JE] Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain. [ Beretta,L, Scorza,R] Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, University of Milan, Italy. [ Carmen,P S] Department of Internal Medicine, Hospital Vall d’Hebron, Barcelona, Spain. [Carreira,P E] Department of Rheumatology, Hospital 12 de Octubre, Madrid, Spain. [Callejas,J.L. ] Department of Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain. [Fernández-Castro,M.] Department of Rheumatology, Hospital Puerta de Hierro Majadahonda, Madrid, Spain. [Sáez-Comet,L] Department of Internal Medicine, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Beltran,E.] Department of Rheumatology, Hospital General Universitario de Valencia, Spain. [Camps,MT.] Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain. [Egurbide,M.V.] Department of Internal Medicine, Hospital de Cruces, Barakaldo, Spain. [Airo,P.] Servizio di Reumatologia ed Immunologia Clinica Spedali Civili, Brescia, Italy. [Lunardi,C] Department of Medicine, Universita` degli Studi di Verona, Verona, Italy. [Hunzelmann, N] Department of Dermatology, University of Cologne, Cologne, Germany. [Riemekasten,G] Department of Rheumatology and Clinical Immunology, Charite´ University Hospital, Berlin, Germany. [Witte,T] Hannover Medical School, Hannover, Germany. [Kreuter,A] Ruhr University of Bochum, Germany. [Distler,JHW] Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany. [Madhok,R, Shiels,P] Centre for Rheumatic Diseases, Glasgow Royal Infirmary, University of Glasgow, United Kingdom. [Van Laar,JM] Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom. [Fonseca,C, Denton,C] Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom. [Herrick,A, Worthington, J] Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [Vonk,MC, Radstake,T.R.D] Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. [Voskuyl,AE] Department of Rheumatology, VU University Medical Center, Amsterdam, The Netherlands. [Radstake,T.R.D] Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, The Netherland., and 17552, Arthritis Research UK, United Kingdom
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Male ,Linkage disequilibrium ,Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings] ,Polimorfismo de nucleótido simple ,SLE ,lcsh:Medicine ,Autoimmunity ,Genome-wide association study ,Linkage Disequilibrium ,Scleroderma ,Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings] ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Gene Frequency ,Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings] ,Risk Factors ,IRF5 ,Genetics of the Immune System ,Lupus Erythematosus, Systemic ,Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma, Systemic [Medical Subject Headings] ,skin and connective tissue diseases ,lcsh:Science ,Multidisciplinary ,Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus, Systemic [Medical Subject Headings] ,Predisposición genética a la enfermedad ,Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings] ,Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings] ,Phenotype ,Interferon Regulatory Factors ,SYSTEMIC SCLEROSIS ,Medicine ,Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2] ,Female ,TYPE I INTERFERON ,Haplotipos ,Research Article ,Factores de riesgo ,Immunology ,Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins, Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings] ,Check Tags::Male [Medical Subject Headings] ,Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings] ,Single-nucleotide polymorphism ,Human leukocyte antigen ,Biology ,Polymorphism, Single Nucleotide ,White People ,Autoimmune Diseases ,Rheumatology ,Lupus eritematoso sistémico ,Genetics ,Humans ,Genetic Predisposition to Disease ,Grupo de ascendencia continental europea ,Allele ,Allele frequency ,Alleles ,Genetic Association Studies ,Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings] ,Scleroderma, Systemic ,Haplotype ,lcsh:R ,Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings] ,Human Genetics ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic [Medical Subject Headings] ,Factores reguladores del interferón ,Haplotypes ,Desequilibrio de ligamiento ,Check Tags::Female [Medical Subject Headings] ,Genetic Loci ,Genetics of Disease ,Genetic Polymorphism ,Clinical Immunology ,lcsh:Q ,Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings] ,Population Genetics - Abstract
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, rs2004640, and rs4728142) in a total of 3,361 SSc patients and 4,012 unaffected controls of Caucasian origin from Spain, Germany, The Netherlands, Italy and United Kingdom. A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc. Allelic combination and dependency tests were also carried out. The three SNPs showed strong associations with the global disease (rs4728142: P = 1.34×10-8, OR = 1.22, CI 95% = 1.14-1.30; rs2004640: P = 4.60×10-7, OR = 0.84, CI 95% = 0.78-0.90; rs10488631: P = 7.53×10-20, OR = 1.63, CI 95% = 1.47-1.81). However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P = 0.598). The haplotype containing the risk alleles (rs4728142*A-rs2004640*T-rs10488631*C: P = 9.04×10-22, OR = 1.75, CI 95% = 1.56-1.97) better explained the observed association (likelihood P-value = 1.48×10-4), suggesting an additive effect of the three haplotypic blocks. No statistical significance was observed in the comparisons amongst SSc patients with and without the main clinical characteristics. Our data clearly indicate that the SLE risk haplotype also influences SSc predisposition, and that this association is not sub-phenotype-specific. © 2013 Carmona et al.
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- 2013
20. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis
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Bossini-Castillo, L., Simeon, C.P., Beretta, L., Broen, J.C., Vonk, M.C., Rios-Fernandez, R., Espinosa, G., Carreira, P., Camps, M.T., Castillo, M.J., Gonzalez-Gay, M.A., Beltran, E., Freire, M.D., Narvaez, J., Tolosa, C., Witte, T., Kreuter, A., Schuerwegh, A.J., Hoffmann-Vold, A.M., Hesselstrand, R., Lunardi, C., Laar, J.M. van, Chee, M.M., Herrick, A., Koeleman, B.P.C., Denton, C.P., Fonseca, C., Radstake, T.R.D.J., Martin, J., Spanish Scleroderma Grp, The Spanish Scleroderma Group, [Bossini-Castillo,L, Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain. [Simeon,CP] Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain. [Beretta,L] IRCCS Fondazione Policlinico-Mangiagalli-Regina Elena and University of Milan, Allergy, Clinical Immunology and Rheumatology, Milan, Italy. [Broen,JC, Vonk,MC] Department of Rheumatology, Radboud University Nijmegen Medical CentreNijmegen, The Netherlands. [Ríos-Fernández,R] Servicio de Medicina Interna, Hospital Clínico Universitario, Granada, Spain. [Espinosa,G] Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain. [Carreira,P] Servicio de Reumatología, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Servicio de Medicina Interna, Hospital Carlos Haya, Málaga, Spain. [Castillo,MJ] Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, Spain. [González-Gay,MA] Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain. [Beltran,E] Servicio de Reumatología, Hospital del Doctor Peset Aleixandre, Valencia, Spain. [Freire,M del C] Unidad Trombosis y Vasculitis, Servicio de Medicina Interna, Hospital Xeral-Complexo Hospitalario Universitario de Vigo, Vigo, Spain. [Narváez,J] Servicio de Reumatología, Hospital Universitario de Bellvitge, Barcelona, Spain. [Tolosa,C] Servicio de Medicina Interna, Hospital Parc Taulí, Sabadell, Spain. [Witte,T] Hannover Medical School, Hannover, Germany. [Kreuter,A] Ruhr University of Bochum, Bochum, Germany. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [Hoffmann-Vold,A-M] Department of Rheumatology, Rikshospitalet, Oslo University Hospital, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway. [Hesselstrand,R] Department of Rheumatology, Lund University, Lund, Sweden. [Lunardi,C] Department of Medicine, Università degli Studi di Verona Verona, Italy. [Van Laar,JM] Institute of Cellular Medicine, Newcastle University, NewcastleUK. [Chee,MM] Centre for Rheumatic Diseases, Glasgow Royal Infirmary, Glasgow, UK. [Herrick,A] Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. [Koeleman,BPC] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [Denton,CP, Fonseca,C] Centre for Rheumatology, Royal Free and University College Medical School, University College London, London, UK. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., This work was supported by the following grants: GENFER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain and by Fondo Europeo de Desarrollo Regional (FEDER). The VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). The Orphan Disease Program grant from the European League Against Rheumatism (EULAR). The Dutch Diabetes Research Foundation (grant 2008.40.001) and the Dutch Arthritis Foundation (Reumafonds, grant NR 09-1-408). DFG WI 1031/6.1. This study was also funded by PI-0590-2010, Consejería de Salud, Junta de Andalucía, Spain., and Universitat de Barcelona
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Antigens, Differentiation, T-Lymphocyte ,Male ,systemic sclerosis ,CD226 gene ,Autoimmune diseases ,Pulmonary Fibrosis ,Genome-wide association study ,Chemicals and Drugs::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, Differentiation, T-Lymphocyte [Medical Subject Headings] ,GWAS ,Genoma humà ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings] ,Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [Medical Subject Headings] ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Cohort Studies ,Pulmonary fibrosis ,Immunology and Allergy ,Antígenos de diferenciación de linfocitos T ,Malalties autoimmunitàries ,Fibrosi pulmonar ,Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1] ,Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2] ,Female ,Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings] ,Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings] ,Research Article ,Genotype ,Estudios de cohortes ,Fibrosis pulmonar ,Esclerodermia sistémica ,Immunology ,Check Tags::Male [Medical Subject Headings] ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Rheumatology ,Genetic variation ,medicine ,Genetic predisposition ,Humans ,SNP ,Diseases::Respiratory Tract Diseases::Lung Diseases::Pulmonary Fibrosis [Medical Subject Headings] ,Genetic Association Studies ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings] ,Scleroderma, Systemic ,Human genome ,Estudios de asociación genética ,Haplotype ,Autoantibody ,Genetic Variation ,medicine.disease ,Scleroderma (Disease) ,Check Tags::Female [Medical Subject Headings] ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies [Medical Subject Headings] ,Esclerodèrmia ,Genotipo - Abstract
Introduction CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population. Methods A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays. Results Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)). Conclusion Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis., This work was supported by the following grants: JM was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain and by Fondo Europeo de Desarrollo Regional (FEDER).
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- 2012
21. Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
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Teruel, María, Simeón Aznar, Carmen Pilar, Broen, Jasper C., Vonk, Madelon C., Carreira, Patricia, Camps García, María Teresa, García-Portales, Rosa, Delgado-Frías, Esmeralda, Gallego, Maria, Espinosa Garriga, Gerard, Spanish Scleroderma Study Group (SSSG), Beretta, Lorenzo, Airó, Paolo, Lunardi, Claudio, Riemekasten, Gabriela, Witte, Torsten, Krieg, Thomas, Kreuter, Alexander, Distler, Jörg H.V., Hunzelmann, Nicolas, Koeleman, Bobby P. C., Voskuyl, Alexandre E., Schuerwegh, Annemie J., González-Gay, Miguel A., Radstake, Timothy R.D.J., Martín, Javier, Narváez García, Francisco Javier, Rheumatology, CCA - Immuno-pathogenesis, Universitat de Barcelona, The Spanish Scleroderma Group, [Teruel,M, Martin,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSICGranada, SpainArmilla (Granada), Spain. [Simeon,CP] Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain. [Broen,J, Vonk,MC] Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [Carreira,P] Department of Rheumatology, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain. [García-Portales,R] Department of Rheumatology, Hospital Virgen de la Victoria, Málaga, Spain. [Delgado-Frías,E] Department of Rheumatology, Hospital Universitario de Canarias, La Cuesta, San Cristóbal de La Laguna, Tenerife, Canarias, Spain. [Gallego,M] Department of Internal Medicine, Hospital Central de Asturias, Oviedo, Spain. [Espinosa,G] Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Spain. [Beretta,L] Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico. University of Milan, Milan, Italy. [Airó,P] Rheumatology Unit and Chair, Spedali Civili, Università degli Studi, Brescia, Italy. [Lunardi,C] Department of Medicine, Policlinico GB Rossi, Università degli studi di Verona, Verona, Italy. [Riemekasten,G] Department of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany. [Witte,T] Clinic for Immunology and Rheumatology Medical School, Hannover, Germany. [Krieg,T, and Hunzelmann,N] Department of Dermatology, University of Cologne, Germany. [Kreuter,A] Department of Dermatology, Allergology, and Venereology, Ruhr University of Bochum, Bochum, Germany. [Distler,JHW] Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany. [Koeleman,BP] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [Voskuy,AE] Department of Rheumatology, VU University Medical Center, Amsterdam, The Netherlands. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [González-Gay,MA] Department of Rheumatology, Hospital Universitario Marques de Valdecilla, IFIMAV, Santander, Spain. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Utrecht Medical Center Utrecht, The Netherlands.
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systemic sclerosis ,Autoimmune diseases ,Genome-wide association study ,CD40 ,CD40L ,GWAS ,Serology ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,0302 clinical medicine ,Pulmonary fibrosis ,Genotype ,Immunology and Allergy ,Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma, Systemic [Medical Subject Headings] ,skin and connective tissue diseases ,Giant cell arteritis ,0303 health sciences ,Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::Antigens, CD40 [Medical Subject Headings] ,Malalties autoimmunitàries ,integumentary system ,Predisposición genética a la enfermedad ,Fibrosi pulmonar ,Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings] ,Phenotype ,Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1] ,Humanos ,3. Good health ,030220 oncology & carcinogenesis ,Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2] ,Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings] ,Research Article ,medicine.medical_specialty ,Esclerodermia sistémica ,Immunology ,CD40 Ligand ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Rheumatology ,Internal medicine ,medicine ,Humans ,antígenos CD40 ,Genetic Predisposition to Disease ,CD40 Antigens ,Gene ,Arteritis de cèl·lules gegants ,030304 developmental biology ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings] ,Scleroderma, Systemic ,business.industry ,Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::CD40 Ligand [Medical Subject Headings] ,medicine.disease ,Ligando CD40 ,Scleroderma (Disease) ,Polimorfismo de Nucleótido Simple ,Esclerodèrmia ,business ,Genotipo - Abstract
Introduction The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc). Methods In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes. Results No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis. Conclusions Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc., This work was supported by the following grants. JM was funded by SAF2009-11110 from the Spanish Ministry of Science, by CTS-4977 and PI-0590-2010 from Junta de Andalucía, and by RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), within the VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). JM and TRDJR were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). TW was awarded grants by DFG WI 1031/6.1 and DFG KFO 250 TP03. MT was supported by Spanish Ministry of Science through the program Juan de la Cierva (JCI-2010-08227).
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- 2012
22. PTPN22 is not associated with Behçet's disease. Study spanning the complete gene region in the Spanish population and meta-analysis of the functional variant R620W.
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Ortiz-Fernández L, Montes-Cano MA, García-Lozano JR, Conde-Jaldón M, Ortego-Centeno N, González-Leon R, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Juliá MR, Solans R, Blanco R, Barnosi-Marín AC, Fanlo P, Rodríguez Carballeira M, Camps MT, Castañeda S, Martín J, and González-Escribano MF
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- Behcet Syndrome diagnosis, Behcet Syndrome enzymology, Case-Control Studies, Chi-Square Distribution, Female, Genetic Association Studies, Genetic Markers, Genetic Predisposition to Disease, Humans, Male, Odds Ratio, Phenotype, Promoter Regions, Genetic, Risk Factors, Spain, Behcet Syndrome genetics, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 22 genetics
- Abstract
Objectives: The functional variant R620W of the protein tyrosine phosphatase non receptor-22 (PTPN22) gene plays an important role in susceptibility to several immuno-mediated pathologies. Behçet's disease (BD) is a complex disease related to the immune system with a demonstrated genetic base. The HLA class I genes are the most important genetic factors in BD although other genes are also involved in the susceptibility to this disease. The PTPN22 has been proposed as a candidate gene in BD but this association has not been clearly demonstrated yet. The aim of this study was to assess the association of PTPN22 with BD., Methods: A cohort composed of 404 Spanish BD patients and 1517 unrelated healthy individuals ethnically matched was genotyped in rs2476601 (R620W). Five tag SNPs: rs1217412, rs2476599, rs3789607, rs3765598 and rs1217419 (spanning a 57 Kb region between 3'UTR and 5'UTR) and rs2488457 (located at the promoter region) were also studied in order to perform a screening of the complete gene. Genotyping was performed using TaqMan® assays. The rs2476601 data were included in a meta-analysis together with those published till the date. The rest of SNPs were used in a case-control study., Results: No evidence of the association of rs2476601 with BD in the meta-analysis (P = 0.504 in the model of alleles) was found. In the case-control study, no statistically significant differences were observed when comparing the distribution of variants in patients and controls., Conclusions: Our results do not support a major role of the PTPN22 gene in BD.
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- 2016
23. Early- versus late-onset systemic sclerosis: differences in clinical presentation and outcome in 1037 patients.
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Alba MA, Velasco C, Simeón CP, Fonollosa V, Trapiella L, Egurbide MV, Sáez L, Castillo MJ, Callejas JL, Camps MT, Tolosa C, Ríos JJ, Freire M, Vargas JA, and Espinosa G
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- Adult, Age of Onset, Female, Humans, Male, Middle Aged, Risk Factors, Treatment Outcome, Scleroderma, Systemic complications, Scleroderma, Systemic physiopathology
- Abstract
Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤ 30 years (early onset), age between 31 and 59 years (standard onset), and age ≥ 60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients.
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- 2014
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24. Systemic involvement in primary Sjogren's syndrome evaluated by the EULAR-SS disease activity index: analysis of 921 Spanish patients (GEAS-SS Registry).
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Ramos-Casals M, Brito-Zerón P, Solans R, Camps MT, Casanovas A, Sopeña B, Díaz-López B, Rascón FJ, Qanneta R, Fraile G, Pérez-Alvarez R, Callejas JL, Ripoll M, Pinilla B, Akasbi M, Fonseca E, Canora J, Nadal ME, de la Red G, Fernández-Regal I, Jiménez-Heredia I, Bosch JA, Ayala MD, Morera-Morales L, Maure B, Mera A, Ramentol M, Retamozo S, and Kostov B
- Subjects
- Adult, Aged, Cohort Studies, Female, Follow-Up Studies, Humans, Joint Diseases epidemiology, Lung Diseases epidemiology, Male, Middle Aged, Regression Analysis, Severity of Illness Index, Skin Diseases epidemiology, Spain epidemiology, Registries, Sjogren's Syndrome diagnosis, Sjogren's Syndrome epidemiology
- Abstract
Objective: To evaluate systemic involvement in primary SS in a large cohort of Spanish patients using the EULAR-SS disease activity index (ESSDAI) definitions., Methods: Systemic involvement was characterized using ESSDAI definitions for the 10 clinical domains (constitutional, lymphadenopathy, glandular, articular, cutaneous, pulmonary, renal, peripheral nervous system, central nervous system and muscular). ESSDAI scores at diagnosis, during follow-up and cumulated at the last visit were calculated., Results: The cohort consisted of 921 patients. After a mean follow-up of 75 months, 77 (8%) patients still had an ESSDAI score of zero at the last visit. Organ by organ, the percentage of patients who developed activity during the follow-up (ESSDAI score ≥ 1 at any time) ranged between 1.4% and 56%, with articular, pulmonary and peripheral neurological involvement being the most common. Logistic multivariate regression analysis showed the following features at diagnosis and had the closest association with systemic activity (statistically significant independent variables in at least two domains): cryoglobulinaemia in five domains; anaemia, lymphopenia and low C3 levels in three domains each and age <35 years in two domains. Sicca features, ANA and RF at diagnosis were not associated with a higher cumulated activity score in any clinical domain., Conclusion: Primary SS is undeniably a systemic disease, with the joints, lungs, skin and peripheral nerves being the most frequently involved organs. Cytopenias, hypocomplementaemia and cryoglobulinaemia at diagnosis strongly correlated with higher cumulated ESSDAI scores in the clinical domains. Clinically the ESSDAI provides a reliable picture of systemic involvement in primary SS.
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- 2014
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25. IL2/IL21 region polymorphism influences response to rituximab in systemic lupus erythematosus patients.
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Márquez A, Dávila-Fajardo CL, Robledo G, Rubio JL, de Ramón Garrido E, García-Hernández FJ, González-León R, Ríos-Fernández R, Barrera JC, González-Escribano MF, García MT, Palma MJ, del Mar Ayala M, Ortego-Centeno N, and Martín J
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- Antibodies, Monoclonal, Murine-Derived therapeutic use, Autoimmune Diseases genetics, Autoimmune Diseases immunology, Gene Expression Regulation, Genotype, Humans, Lupus Erythematosus, Systemic genetics, Lupus Erythematosus, Systemic immunology, Odds Ratio, Polymorphism, Single Nucleotide genetics, Rituximab, Spain, Antibodies, Monoclonal, Murine-Derived pharmacology, Autoimmune Diseases drug therapy, Interleukin-2 genetics, Interleukins genetics, Lupus Erythematosus, Systemic drug therapy, Pharmacogenetics methods
- Abstract
To determine whether the IL2/IL21 region, a general autoimmunity locus, contributes to the observed variation in response to rituximab in patients with systemic lupus erythematosus as well as to analyze its influence in a cohort including other autoimmune diseases. rs6822844 G/T polymorphism at the IL2-IL21 region was analyzed by TaqMan assay in 84 systemic lupus erythematosus (SLE) and 60 different systemic autoimmune diseases Spanish patients receiving rituximab. Six months after the first infusion patients were classified, according to the EULAR criteria, as good responders, partial responders and non-responders. A statistically significant difference was observed in GG genotype frequency between responder (total and partial response) (83.56%) and non-responder (45.45%) SLE patients (p=0.010, odds ratio (OR)=6.10 [1.28-29.06]). No association with the response was evident in the group of patients with autoimmune diseases other than lupus. Furthermore, when both groups of patients were pooled in a meta-analysis, a reduced statistical significance of the association was observed (p=0.024, OR=3.53 [1.06-11.64]). Our results show for a first time that IL2-IL21 region seems to play a role in the response to rituximab in SLE patients but not in other autoimmune diseases.
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- 2013
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26. The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
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Carmona FD, Martin JE, Beretta L, Simeón CP, Carreira PE, Callejas JL, Fernández-Castro M, Sáez-Comet L, Beltrán E, Camps MT, Egurbide MV, Airó P, Scorza R, Lunardi C, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Madhok R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Schuerwegh AJ, Vonk MC, Voskuyl AE, Radstake TR, and Martín J
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- Alleles, Female, Gene Frequency, Genetic Loci, Humans, Linkage Disequilibrium, Lupus Erythematosus, Systemic complications, Lupus Erythematosus, Systemic ethnology, Male, Phenotype, Risk Factors, Scleroderma, Systemic complications, Scleroderma, Systemic ethnology, White People, Genetic Predisposition to Disease, Haplotypes, Interferon Regulatory Factors genetics, Lupus Erythematosus, Systemic genetics, Polymorphism, Single Nucleotide, Scleroderma, Systemic genetics
- Abstract
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, rs2004640, and rs4728142) in a total of 3,361 SSc patients and 4,012 unaffected controls of Caucasian origin from Spain, Germany, The Netherlands, Italy and United Kingdom. A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc. Allelic combination and dependency tests were also carried out. The three SNPs showed strong associations with the global disease (rs4728142: P = 1.34×10(-8), OR = 1.22, CI 95% = 1.14-1.30; rs2004640: P = 4.60×10(-7), OR = 0.84, CI 95% = 0.78-0.90; rs10488631: P = 7.53×10(-20), OR = 1.63, CI 95% = 1.47-1.81). However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P = 0.598). The haplotype containing the risk alleles (rs4728142*A-rs2004640*T-rs10488631*C: P = 9.04×10(-22), OR = 1.75, CI 95% = 1.56-1.97) better explained the observed association (likelihood P-value = 1.48×10(-4)), suggesting an additive effect of the three haplotypic blocks. No statistical significance was observed in the comparisons amongst SSc patients with and without the main clinical characteristics. Our data clearly indicate that the SLE risk haplotype also influences SSc predisposition, and that this association is not sub-phenotype-specific.
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- 2013
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27. KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor.
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Bossini-Castillo L, Simeon CP, Beretta L, Broen J, Vonk MC, Callejas JL, Carreira P, Rodríguez-Rodríguez L, García-Portales R, González-Gay MA, Castellví I, Camps MT, Tolosa C, Vicente-Rabaneda E, Egurbide MV, Schuerwegh AJ, Hesselstrand R, Lunardi C, van Laar JM, Shiels P, Herrick A, Worthington J, Denton C, Radstake TR, Fonseca C, and Martin J
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- Cohort Studies, Gene Frequency, Genetic Predisposition to Disease ethnology, Genotype, Humans, Hypertension, Pulmonary complications, Hypertension, Pulmonary ethnology, Italy, Linkage Disequilibrium, Netherlands, Odds Ratio, Scleroderma, Systemic complications, Scleroderma, Systemic ethnology, Spain, Sweden, United Kingdom, White People genetics, Genetic Predisposition to Disease genetics, Hypertension, Pulmonary genetics, Kv1.5 Potassium Channel genetics, Polymorphism, Single Nucleotide, Scleroderma, Systemic genetics
- Abstract
Introduction: Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction. Recently, a protective association of the KCNA5 locus with systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH) was reported. Hence, the aim of this study was to replicate these findings in an independent multicenter Caucasian SSc cohort., Methods: The 2,343 SSc cases (179 PAH positive, confirmed by right-heart catheterization) and 2,690 matched healthy controls from five European countries were included in this study. Rs10744676 single-nucleotide polymorphism (SNP) was genotyped by using a TaqMan SNP genotyping assay., Results: Individual population analyses of the selected KCNA5 genetic variant did not show significant association with SSc or any of the defined subsets (for example, limited cutaneous SSc, diffuse cutaneous SSc, anti-centromere autoantibody positive and anti-topoisomerase autoantibody positive). Furthermore, pooled analyses revealed no significant evidence of association with the disease or any of the subsets, not even the PAH-positive group. The comparison of PAH-positive patients with PAH-negative patients showed no significant differences among patients., Conclusions: Our data do not support an important role of KCNA5 as an SSc-susceptibility factor or as a PAH-development genetic marker for SSc patients.
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- 2012
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28. Association of the FCGR3A-158F/V gene polymorphism with the response to rituximab treatment in Spanish systemic autoimmune disease patients.
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Robledo G, Márquez A, Dávila-Fajardo CL, Ortego-Centeno N, Rubio JL, Garrido Ede R, Sánchez-Román J, García-Hernández FJ, Ríos-Fernández R, González-Escribano MF, García MT, Palma MJ, Ayala Mdel M, and Martín J
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- Alleles, Cohort Studies, Female, Gene Frequency, Homozygote, Humans, Infusions, Intravenous, Male, Receptors, IgG metabolism, Rituximab, White People, Antibodies, Monoclonal, Murine-Derived therapeutic use, Autoimmune Diseases drug therapy, Autoimmune Diseases genetics, Polymorphism, Single Nucleotide, Receptors, IgG genetics
- Abstract
Rituximab is being used as treatment for systemic autoimmune diseases. The objective of this study was to determine whether the genetic variant in the Fc gamma-receptor III a (FCGR3A) gene, 158F/V, contributes to the observed variation in response to rituximab in patients with systemic autoimmune diseases. DNA samples from 132 Spanish patients with different systemic autoimmune diseases receiving rituximab were genotyped for FCGR3A-158F/V (rs396991) gene polymorphism using the TaqMan(®) allelic discrimination technology. Six months after infusion with rituximab we evaluated the response to the drug: 61% of the patients showed a complete response, partial 27% and 12% did not respond to the treatment. A statistically significant difference was observed in V allele frequency between responder (38%) and nonresponder (16%) patients (p=0.01; odds ratio [OR]=3.24, 95% confidence interval [CI] 1.17-11.1). Rituximab was also more effective in V allele carriers (94%) than in homozygous FF patients (81%): p=0.02; OR=3.96, 95% CI 1.10-17.68. These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a role in the response to rituximab in autoimmune diseases. Validation of these findings in independent cohorts is warranted.
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- 2012
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29. No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
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Cénit MC, Simeón CP, Fonollosa V, Espinosa G, Beltrán E, Sáez-Comet L, Vicente-Rabaneda E, García-Hernández FJ, Martínez-Estupiñán L, Rodríguez-Carballeira M, Hernández V, de la Peña PG, Fernández-Castro M, Narváez FJ, Pros A, Gallego M, Ríos-Fernández R, Camps MT, Fernández-Nebro A, Egurbide MV, Carreira P, González-Gay MA, and Martín J
- Subjects
- Case-Control Studies, Gene Frequency genetics, Humans, Cytokine Receptor gp130 genetics, Genetic Association Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide genetics, Receptors, Interleukin-6 genetics, Scleroderma, Systemic genetics
- Abstract
Systemic sclerosis (SSc) is a complex autoimmune disease which genetic component has not been yet completely understood. IL6 encodes a cytokine with a crucial role in the development of autoimmunity and fibrosis and its actions mainly are controlled by IL-6 receptor (IL-6R). We aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes. A Spanish cohort including 1013 SSc patients and 1375 controls was genotyped using the TaqMan® allelic discrimination technology. SSc patients were subdivided according to the major clinical forms, autoantibody status and presence of fibrotic lung affection. Our data showed no influence of the selected variants in global SSc susceptibility (rs8192284: P=0.67, odds ratios (OR)=0.98; rs2228044: P=0.99, OR=1.00). Similarly, the clinical/autoantibody subphenotype analyses did not yielded significant results. Our data suggest that the analyzed polymorphisms may not play a significant role in the SSc susceptibility., (© 2012 John Wiley & Sons A/S.)
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- 2012
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30. Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.
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Teruel M, Simeon CP, Broen J, Vonk MC, Carreira P, Camps MT, García-Portales R, Delgado-Frías E, Gallego M, Espinosa G, Beretta L, Airó P, Lunardi C, Riemekasten G, Witte T, Krieg T, Kreuter A, Distler JH, Hunzelmann N, Koeleman BP, Voskuyl AE, Schuerwegh AJ, González-Gay MA, Radstake TR, and Martin J
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- Genotype, Humans, CD40 Antigens genetics, CD40 Ligand genetics, Genetic Predisposition to Disease genetics, Polymorphism, Single Nucleotide, Scleroderma, Systemic genetics
- Abstract
Introduction: The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc)., Methods: In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes., Results: No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis., Conclusions: Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.
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- 2012
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31. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.
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Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, Espinosa G, Carreira P, Camps MT, Castillo MJ, González-Gay MA, Beltrán E, Carmen Freire Md, Narváez J, Tolosa C, Witte T, Kreuter A, Schuerwegh AJ, Hoffmann-Vold AM, Hesselstrand R, Lunardi C, van Laar JM, Chee MM, Herrick A, Koeleman BP, Denton CP, Fonseca C, Radstake TR, and Martin J
- Subjects
- Cohort Studies, Female, Genetic Variation genetics, Genotype, Humans, Male, Pulmonary Fibrosis epidemiology, Scleroderma, Systemic epidemiology, Antigens, Differentiation, T-Lymphocyte genetics, Genetic Association Studies methods, Polymorphism, Single Nucleotide genetics, Pulmonary Fibrosis genetics, Scleroderma, Systemic genetics
- Abstract
Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population., Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays., Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (PBonf = 3.18E-02 OR 1.27 (1.05 to 1.54))., Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis.
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- 2012
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32. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
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Bossini-Castillo L, Simeon CP, Beretta L, Vonk MC, Callejas-Rubio JL, Espinosa G, Carreira P, Camps MT, Rodríguez-Rodríguez L, Rodríguez-Carballeira M, García-Hernández FJ, López-Longo FJ, Hernández-Hernández V, Sáez-Comet L, Egurbide MV, Hesselstrand R, Nordin A, Hoffmann-Vold AM, Vanthuyne M, Smith V, De Langhe E, Kreuter A, Riemekasten G, Witte T, Hunzelmann N, Voskuyl AE, Schuerwegh AJ, Lunardi C, Airó P, Scorza R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Koeleman BP, Rueda B, Radstake TR, and Martin J
- Subjects
- Case-Control Studies, Genetic Markers, Genotype, Humans, Odds Ratio, Scleroderma, Systemic blood, Genetic Predisposition to Disease, Macrophage Migration-Inhibitory Factors genetics, Polymorphism, Single Nucleotide, Scleroderma, Systemic genetics
- Abstract
Objectives: The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population., Methods: A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight different European countries were included in the study. The MIF -173 single nucleotide polymorphism (SNP) was selected as genetic marker and genotyped using Taqman 5' allelic discrimination assay., Results: The MIF -173 SNP showed association with SSc [P = 0.04, odds ratio (OR) = 1.10, 95% CI 1.00, 1.19]. Analysis of the MIF -173 polymorphism according to SSc clinical phenotype revealed that the frequency of the -173*C allele was significantly higher in the dcSSc group compared with controls (P = 5.30E-03, OR = 1.21, 95% CI 1.07, 1.38). Conversely, the frequency of the MIF -173*C allele was significantly underrepresented in the lcSSc group compared with dcSSc patients, supporting previous findings [(P = 0.04, OR = 0.86, 95% CI 0.75, 0.99); meta-analysis including previous results (P = 0.005, OR = 0.83, 95% CI 0.73, 0.94)]., Conclusion: Our results confirm the role of MIF -173 promoter polymorphism in SSc, and provide evidence of a strong association with the dcSSc subgroup of patients. Hence, the MIF -173 variant is confirmed as a promising clinical phenotype genetic marker.
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- 2011
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33. No evidence for association between the CCR5/Delta32CCR5 polymorphism and systemic sclerosis.
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Carmona FD, Serrano-Lopera A, López-Isac E, Simeón CP, Carreira P, Rios-Fernandez R, Espinosa G, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, Beltrán E, Gómez-Garcia I, Fernández-Castro M, López-Longo FJ, García-Hernández FJ, Castellví I, Trapiella L, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, García de la Peña P, Pros A, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, González-Gay MA, and Martín J
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- Humans, Polymorphism, Genetic genetics, Genetic Predisposition to Disease genetics, Receptors, CCR5 genetics, Scleroderma, Systemic genetics
- Published
- 2011
34. Rates of, and risk factors for, severe infections in patients with systemic autoimmune diseases receiving biological agents off-label.
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Díaz-Lagares C, Pérez-Alvarez R, García-Hernández FJ, Ayala-Gutiérrez MM, Callejas JL, Martínez-Berriotxoa A, Rascón J, Caminal-Montero L, Selva-O'Callaghan A, Oristrell J, Hidalgo C, Gómez-de-la-Torre R, Sáez L, Canora-Lebrato J, Camps MT, Ortego-Centeno N, Castillo-Palma MJ, and Ramos-Casals M
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- Adolescent, Adult, Aged, Aged, 80 and over, Autoimmune Diseases mortality, Female, Humans, Infections mortality, Kaplan-Meier Estimate, Male, Middle Aged, Proportional Hazards Models, Risk Factors, Young Adult, Autoimmune Diseases complications, Autoimmune Diseases drug therapy, Biological Products therapeutic use, Infections complications, Infections epidemiology, Off-Label Use
- Abstract
Introduction: The purpose of this observational study was to analyze the rates, characteristics and associated risk factors of severe infections in patients with systemic autoimmune diseases (SAD) who were treated off-label with biological agents in daily practice., Methods: The BIOGEAS registry is an ongoing Spanish prospective cohort study investigating the long-term safety and efficacy of the off-label use of biological agents in adult patients with severe, refractory SAD. Severe infections were defined according to previous studies as those that required intravenous treatment or that led to hospitalization or death. Patients contributed person-years of follow-up for the period in which they were treated with biological agents., Results: A total of 344 patients with SAD treated with biological agents off-label were included in the Registry until July 2010. The first biological therapies included rituximab in 264 (77%) patients, infliximab in 37 (11%), etanercept in 21 (6%), adalimumab in 19 (5%), and 'other' agents in 3 (1%). Forty-five severe infections occurred in 37 patients after a mean follow-up of 26.76 months. These infections resulted in four deaths. The crude rate of severe infections was 90.9 events/1000 person-years (112.5 for rituximab, 76.9 for infliximab, 66.9 for adalimumab and 30.5 for etanercept respectively). In patients treated with more than two courses of rituximab, the crude rate of severe infection was 226.4 events/1000 person-years. A pathogen was identified in 24 (53%) severe infections. The most common sites of severe infection were the lower respiratory tract (39%), bacteremia/sepsis (20%) and the urinary tract (16%). There were no significant differences relating to gender, SAD, agent, other previous therapies, number of previous immunosuppressive agents received or other therapies administered concomitantly. Cox regression analysis showed that age (P = 0.015) was independently associated with an increased risk of severe infection. Survival curves showed a lower survival rate in patients with severe infections (log-rank and Breslow tests < 0.001)., Conclusions: The rates of severe infections in SAD patients with severe, refractory disease treated depended on the biological agent used, with the highest rates being observed for rituximab and the lowest for etanercept. The rate of infection was especially high in patients receiving three or more courses of rituximab. In patients with severe infections, survival was significantly reduced. Older age was the only significant predictive factor of severe infection.
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- 2011
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35. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.
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Bossini-Castillo L, Broen JC, Simeon CP, Beretta L, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez L, Tolosa C, Román-Ivorra JA, Gómez-Gracia I, García-Hernández FJ, Castellví I, Gallego M, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, de la Peña PG, Pros A, González-Gay MA, Hesselstrand R, Riemekasten G, Witte T, Coenen MJ, Koeleman BP, Houssiau F, Smith V, de Keyser F, Westhovens R, De Langhe E, Voskuyl AE, Schuerwegh AJ, Chee MM, Madhok R, Shiels P, Fonseca C, Denton C, Claes K, Padykov L, Nordin A, Palm O, Lie BA, Airó P, Scorza R, van Laar JM, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Radstake TR, Martín J, and Rueda B
- Subjects
- Case-Control Studies, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, Promoter Regions, Genetic genetics, OX40 Ligand genetics, Polymorphism, Single Nucleotide, Scleroderma, Systemic genetics
- Abstract
Objectives: The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features., Methods: A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers., Results: A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively)., Conclusions: The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
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- 2011
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36. Morbidity and mortality in the antiphospholipid syndrome during a 5-year period: a multicentre prospective study of 1000 patients.
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Cervera R, Khamashta MA, Shoenfeld Y, Camps MT, Jacobsen S, Kiss E, Zeher MM, Tincani A, Kontopoulou-Griva I, Galeazzi M, Bellisai F, Meroni PL, Derksen RH, de Groot PG, Gromnica-Ihle E, Baleva M, Mosca M, Bombardieri S, Houssiau F, Gris JC, Quéré I, Hachulla E, Vasconcelos C, Roch B, Fernández-Nebro A, Piette JC, Espinosa G, Bucciarelli S, Pisoni CN, Bertolaccini ML, Boffa MC, and Hughes GR
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- Adolescent, Adult, Aged, Aged, 80 and over, Anticoagulants administration & dosage, Antiphospholipid Syndrome drug therapy, Antiphospholipid Syndrome immunology, Child, Child, Preschool, Drug Utilization statistics & numerical data, Epidemiologic Methods, Europe epidemiology, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Prognosis, Thrombosis epidemiology, Young Adult, Antiphospholipid Syndrome epidemiology
- Abstract
Objectives: To identify the main causes of morbidity and mortality in patients with antiphospholipid syndrome (APS) during a 5-year period and to determine clinical and immunological parameters with prognostic significance., Methods: The clinical and immunological features of a cohort of 1000 patients with APS from 13 European countries who had been followed up from 1999 to 2004 were analysed., Results: 200 (20%) patients developed APS-related manifestations during the 5-year study period. Recurrent thrombotic events appeared in 166 (16.6%) patients and the most common were strokes (2.4% of the total cohort), transient ischaemic attacks (2.3%), deep vein thromboses (2.1%) and pulmonary embolism (2.1%). When the thrombotic events occurred, 90 patients were receiving oral anticoagulants and 49 were using aspirin. 31/420 (7.4%) patients receiving oral anticoagulants presented with haemorrhage. 3/121 (2.5%) women with only obstetric APS manifestations at the start of the study developed a new thrombotic event. A total of 77 women (9.4% of the female patients) had one or more pregnancies and 63 (81.8% of pregnant patients) had one or more live births. The most common fetal complications were early pregnancy loss (17.1% of pregnancies) and premature birth (35% of live births). 53 (5.3% of the total cohort) patients died. The most common causes of death were bacterial infection (21% of deaths), myocardial infarction (19%) and stroke (13%). No clinical or immunological predictor of thrombotic events, pregnancy morbidity or mortality was detected., Conclusion: Patients with APS still develop significant morbidity and mortality despite current treatment (oral anticoagulants or antiaggregants, or both).
- Published
- 2009
- Full Text
- View/download PDF
37. The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype.
- Author
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Rueda B, Broen J, Torres O, Simeon C, Ortego-Centeno N, Schrijvenaars MM, Vonk MC, Fonollosa V, van den Hoogen FH, Coenen MJ, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Martin J, and Radstake TR
- Subjects
- Adult, Aged, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Receptors, Interleukin genetics, Scleroderma, Systemic genetics
- Abstract
Objectives: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype., Methods: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay., Results: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes., Conclusions: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.
- Published
- 2009
- Full Text
- View/download PDF
38. [Treatment with rituximab of autoimmune disease: results from AADEA's registry].
- Author
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Callejas Rubio JL, Camps MT, and García-Hernández F
- Subjects
- Antibodies, Monoclonal administration & dosage, Antibodies, Monoclonal, Murine-Derived, Granulomatosis with Polyangiitis drug therapy, Humans, Immunologic Factors administration & dosage, Lupus Erythematosus, Systemic drug therapy, Myositis drug therapy, Purpura, Thrombocytopenic, Idiopathic drug therapy, Rituximab, Spain, Time Factors, Antibodies, Monoclonal therapeutic use, Autoimmune Diseases drug therapy, Immunologic Factors therapeutic use, Registries
- Published
- 2008
- Full Text
- View/download PDF
39. [Intravenous cyclophosphamide in lupus nephritis: twenty years reducing dose].
- Author
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Frutos MA, Martín Gómez A, de Ramón E, Camps MT, Valera A, García I, and Fernández Nebro A
- Subjects
- Adult, Female, Humans, Infusions, Intravenous, Male, Time Factors, Cyclophosphamide administration & dosage, Immunosuppressive Agents administration & dosage, Lupus Nephritis drug therapy
- Abstract
The prognosis for patients with proliferative glomerulonephritis associated with systemic lupus erythematosus has dramatically improved over recent decades. We review our experience with intermittent pulse therapy with intravenous cyclophosphamide (IC) in 97 patients (75 female) aged over 20 years. The series was divided into three groups. Group A (n=39) received monthly IC pulses (begin 1 g) for up to 24 months between 1985-1991. Group B (n=47) received monthly IC pulses (1 g) for six months with additional quarterly doses for a maximum of 18 months, depending on the therapeutic response (from 1991). From 1999, Group C (n=11) patients were treated with low-dose IC (3 g in three months) followed by azathioprine (2 mg/kg) or mycophenolate mofetil (1.5-2.0 g/day) for 12-18 months. The total IC doses (g) administered were: Group A, 15.1+/-9.0; Group B, 8.5+/-3.5; and Group C, 3.0+/-0.0. These figures show the trend progressive reduction in exposure to IC. Overall, treatment with the different IC regimens achieved satisfactory control of lupus nephritis in 76% of the patients. Comparison of the values at baseline and after 24 months showed that the serum creatinine (mg/dl) fell in Group A from 1.77+/-1.06 to 1.09+/-0.63, in Group B from 1.22+/- 0.85 to 0.95+/- 0.45, and in Group C from 0.90+/-0.23 to 1.17+/-0.54 (p<0.05). In the same period, proteinuria (g/day) fell in Group A from 6.19+/-4.31 to 0.79+/-1.76, in Group B from 4.43+/- 3.17 to 2.08+/-3.65, and in Group C from 5.43+/- 3.37 to 3.22+/-4.00 (p=0.05). There was not differences between the three groups in both variables. The adverse effects were mainly viral and bacterial infections, with no intergroup differences. Avascular osteonecrosis requiring hip replacement and early menopause were more frequent in Group A. Nine patients died, seven due to cardiovascular causes and two with infection. No differences were detected between the three groups when analyzing the overall patient survival at 5, 10 and 15 years (95%, 92%, and 84%, respectively). The likelihood of maintaining serum creatinine within normal ranges or less than twice the baseline range was similar in the three groups at 5, 10 and 15 years (92%, 72% and 66%, respectively). There were 47 episodes of relapse, with no differences between the three groups. In Summary, treatment with different regimens of intermittent IC is relatively safe and efficient to control the disease and lupus nephritis in SLE patients even with progressively smaller doses. The price paid concerned infectious complications, and bone and ovarian toxicity. New alternatives should at least maintain the same efficacy, but with fewer adverse effects and relapses.
- Published
- 2007
40. Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the "Euro-Lupus Project".
- Author
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Cervera R, Abarca-Costalago M, Abramovicz D, Allegri F, Annunziata P, Aydintug AO, Bacarelli MR, Bellisai F, Bernardino I, Biernat-Kaluza E, Blockmans D, Boki K, Bracci L, Campanella V, Camps MT, Carcassi C, Cattaneo R, Cauli A, Cervera R, Chwalinska-Sadowska H, Contu L, Cosyns JP, Danieli MG, DCruz D, Depresseux G, Direskeneli H, Domènech I, Espinosa G, Fernández-Nebro A, Ferrara GB, Font J, Frutos MA, Galeazzi M, Garcìa-Carrasco M, García Iglesias MF, García-Tobaruela A, George J, Gil A, González-Santos P, Grana M, Gül A, Haga HJ, de Haro-Liger M, Houssiau F, Hughes GR, Ingelmo M, Jedryka-Góral A, Khamashta MA, Lavilla P, Levi Y, López-Dulpa M, López-Soto A, Maldykowa H, Marcolongo R, Mathieu A, Morozzi G, Nicolopoulou N, Papasteriades C, Passiu G, Perelló I, Petera P, Petrovic R, Piette JC, Pintado V, de Pita O, Popovic R, Pucci G, Puddu P, de Ramón E, Ramos-Casals M, Rodríguez-Andreu J, Ruiz-Irastorza G, Sanchez-Lora J, Sanna G, Scorza R, Sebastiani GD, Sherer Y, Shoenfeld Y, Simpatico A, Sinico RA, Smolen J, Tincani A, Tokgöz G, Urbano-Márquez A, Vasconcelos C, Vázquez JJ, Veronesi J, Vianna J, and Vivancos J
- Subjects
- Age of Onset, Antibodies, Antinuclear blood, Autoimmune Diseases blood, Autoimmune Diseases mortality, Cohort Studies, Europe epidemiology, Female, Follow-Up Studies, Humans, Lupus Erythematosus, Systemic blood, Lupus Erythematosus, Systemic mortality, Male, Morbidity, Prognosis, Prospective Studies, Survival Rate, Autoimmune Diseases diagnosis, Autoimmune Diseases epidemiology, Lupus Erythematosus, Systemic diagnosis, Lupus Erythematosus, Systemic epidemiology
- Abstract
The "Euro-Lupus Cohort" is composed by 1000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium--the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The "Euro-Lupus Cohort" provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors.
- Published
- 2006
- Full Text
- View/download PDF
41. Lessons from the "Euro-Lupus Cohort".
- Author
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Cervera R, Abarca-Costalago M, Abramovicz D, Allegri F, Annunziata P, Aydintug AO, Bacarelli MR, Bellisai F, Bernardino I, Biernat-Kaluza E, Blockmans D, Boki K, Bracci L, Campanella V, Camps MT, Carcassi C, Cattaneo R, Cauli A, Chwalinska-Sadowska H, Contu L, Cosyns JP, Danieli MG, D'Cruz D, Depresseux G, Direskeneli H, Domènech I, Espinosa G, Fernández-Nebro A, Ferrara GB, Font J, Frutos MA, Galeazzi M, García-Carrasco M, García-Iglesias MF, García-Tobaruela A, George J, Gil A, González-Santos P, Grana M, Gül A, Haga HJ, de Haro-Liger M, Houssiau F, Hughes GR, Ingelmo M, Jedryka-Góral A, Khamashta MA, Lavilla P, Levi Y, López-Dupla M, López-Soto A, Maldykowa H, Marcolongo R, Mathieu A, Morozzi G, Nicolopoulou N, Papasteriades C, Passiu G, Perelló I, Petera P, Petrovic R, Piette JC, Pintado V, de Pita O, Popovic R, Pucci G, Puddu P, de Ramón E, Ramos-Casals M, Rodríguez-Andreu J, Ruiz-Irastroza G, Sánchez-Lora J, Sanna G, Scorza R, Sebastini GD, Sherer Y, Shoenfeld Y, Simpatico A, Sinico RA, Smolen J, Tincani A, Tokgöz G, Urbano-Márquez A, Vasconcelos C, Vázquez JJ, Veronesi M, Vianni J, and Vivancos J
- Subjects
- Adolescent, Adult, Age of Onset, Antibodies, Antinuclear blood, Cohort Studies, Europe epidemiology, Female, Humans, Lupus Erythematosus, Systemic blood, Lupus Erythematosus, Systemic mortality, Male, Middle Aged, Prognosis, Prospective Studies, Survival Rate, Lupus Erythematosus, Systemic epidemiology
- Abstract
The "Euro-Lupus Cohort" is composed by 1,000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium - the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The "Euro-Lupus Cohort" provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors.
- Published
- 2002
42. Antiphospholipid, anti-beta 2-glycoprotein-I and anti-oxidized-low-density-lipoprotein antibodies in antiphospholipid syndrome.
- Author
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Cuadrado MJ, Tinahones F, Camps MT, de Ramon E, Gómez-Zumaquero JM, Mujic F, Khamashta MA, and Hughes GR
- Subjects
- Adult, Aged, Antibodies, Antiphospholipid analysis, Female, Humans, Logistic Models, Male, Middle Aged, Multivariate Analysis, Thrombosis immunology, beta 2-Glycoprotein I, Antibodies analysis, Antiphospholipid Syndrome immunology, Glycoproteins immunology, Lipoproteins, LDL immunology
- Abstract
Antiphospholipid antibodies (aPL), anti-beta 2-glycoprotein I (anti-beta 2-GPI) and anti-oxidized-low-density lipoprotein (LDL) antibodies are all implicated in the pathogenesis of antiphospholipid syndrome. To investigate whether different autoantibodies or combinations thereof produced distinct effects related to their antigenic specificities, we examined the frequencies of antiphospholipid syndrome (APS)-related features in the presence of different antibodies [aPL, beta 2-GPI, anti-oxidized low density lipoprotein (LDL)] in 125 patients with APS. Median follow-up was 72 months: 58 patients were diagnosed as primary APS and 67 as APS plus systemic lupus erythematosus (SLE). Anticardiolipin antibodies (aCL), anti-beta 2-GPI and anti-oxidized LDL antibodies were determined by ELISA; lupus anticoagulant (LA) by standard coagulometric methods. Univariate analysis showed that patients positive for anti-beta 2-GPI had a higher risk of recurrent thrombotic events (OR = 3.64, 95% CI, p = 0.01) and pregnancy loss (OR = 2.99, 95% CI, p = 0.004). Patients positive for anti-oxidized LDL antibodies had a 2.24-fold increase in the risk of arterial thrombosis (2.24, 95% CI, p = 0.03) and lower risk of thrombocytopenia (OR = 0.41 95% CI, p = 0.04). Patients positive for aCL antibodies had a higher risk of pregnancy loss (OR = 4.62 95% CI, p = 0.001). When these data were tested by multivariate logistic regression, the association between anti-beta 2-GPI and pregnancy loss and the negative association between anti-oxidized LDL antibodies and thrombocytopenia disappeared.
- Published
- 1998
- Full Text
- View/download PDF
43. Thrombosis in primary antiphospholipid syndrome: a pivotal role for monocyte tissue factor expression.
- Author
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Cuadrado MJ, López-Pedrera C, Khamashta MA, Camps MT, Tinahones F, Torres A, Hughes GR, and Velasco F
- Subjects
- Adult, Antiphospholipid Syndrome physiopathology, Female, Humans, Interleukin-1 blood, Male, Middle Aged, Tumor Necrosis Factor-alpha analysis, Antiphospholipid Syndrome blood, Antiphospholipid Syndrome complications, Monocytes chemistry, Thromboplastin biosynthesis, Thrombosis etiology
- Abstract
Objective: The antiphospholipid syndrome (APS) is a disorder of recurrent thrombosis, pregnancy loss, and thrombocytopenia associated with the production of anticardiolipin antibodies (aCL) and lupus anticoagulant (LAC). The mechanisms of thrombus formation remain unknown. Tissue factor (TF), an inducible cell glycoprotein, is a major initiator of coagulation in vivo. The present study was therefore undertaken to investigate TF expression and procoagulant activity on monocytes from patients with primary APS and its correlation with thrombotic events., Methods: Three groups of patients were studied: group 1 comprised 23 primary APS patients with thrombosis, group 2 consisted of 10 primary APS patients without thrombosis, and group 3 contained 20 patients with thrombosis but without antiphospholipid antibodies. Twenty age- and sex-matched healthy blood donors were used as controls (group 4). Anticardiolipin antibodies were measured by enzyme-linked immunosorbent assay (ELISA) and LAC by standard methodology. Cell surface expression of TF on monocytes was assessed by flow cytometry. The amount of TF in cell lysates (TF(Ag)) and soluble TF(Ag) plasma levels were analyzed by ELISA, and the TF-related procoagulant activity (PCA-TF) on intact cells and cell lysates by a chromogenic assay. Levels of the cytokines that influence TF production, i.e., tumor necrosis factor alpha (TNF alpha) and interleukin-1beta (IL-1beta), were determined by ELISA., Results: Cell surface expression of TF was increased in group 1 (mean +/- SEM 50.2 +/- 4% positive cells) compared with group 2 (14.6 +/- 1.6%), group 3 (16.8 +/- 3.7%), and group 4 (14.1 +/- 1.6%). TF(Ag) levels were also elevated in group 1 (215.8 +/- 11.2 pg/10(6)) compared with group 2 (150.8 +/- 15.2), group 3 (101.4 +/- 14.8), and group 4 (80.32 +/- 5.5). PCA-TF on intact cells and cell lysates was significantly increased in group 1 (148.8 +/- 16.3 units/10(5) lysate cells, compared with 54.5 +/- 11.5, 38.6 +/- 9.7, and 22.5 +/- 3.1 in groups 2, 3, and 4, respectively). Among group 1 patients, there was a significant increase in the degree of TF expression in those positive for IgG aCL, but not in those positive for IgM aCL or LAC. TNF alpha and IL-1beta plasma levels did not differ significantly between any of the groups., Conclusion: These results suggest that monocyte TF expression is directly involved in the pathogenesis of thrombotic complications in patients with the primary APS.
- Published
- 1997
- Full Text
- View/download PDF
44. Avascular necrosis of bone in human immunodeficiency virus infection and antiphospholipid antibodies.
- Author
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Belmonte MA, García-Portales R, Doménech I, Fernández-Nebro A, Camps MT, and De Ramón E
- Subjects
- Adult, Arthrography, Female, Humans, Magnetic Resonance Imaging, Male, Osteonecrosis diagnosis, Acquired Immunodeficiency Syndrome complications, Antibodies, Antiphospholipid analysis, Osteonecrosis complications, Osteonecrosis immunology
- Abstract
We describe 3 cases of human immunodeficiency virus (HIV) infected patients with antiphospholipid antibodies (aPL) in serum who developed avascular necrosis (AVN), an association that to our knowledge, has rarely been described. Given that the 3 patients had stopped their intravenous drug addiction 2 years before the clinical picture appeared, and none had any known risk factors for developing AVN, there may be an association, perhaps fortuitous, between HIV infection, the presence of aPL and the development of AVN.
- Published
- 1993
45. [Pyomyositis. The value of computerized axial tomography].
- Author
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García de la Oliva T, Camps MT, Macías M, Serrano F, Algarra J, and Fernández Nebro A
- Subjects
- Adolescent, Humans, Leg, Male, Myositis diagnostic imaging, Staphylococcal Infections diagnostic imaging, Tomography, X-Ray Computed
- Published
- 1990
46. [Brucellosis: a clinico-epidemiologic study of 139 cases].
- Author
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Colmenero Jde D, Valdivielso P, Camps MT, Porras JJ, Trujillo J, and Juárez C
- Subjects
- Adolescent, Adult, Aged, Brucellosis diagnosis, Child, Female, Humans, Male, Middle Aged, Occupations, Spain, Brucellosis epidemiology
- Published
- 1983
47. [Moderate hypercholesterolemia in children. An index of familial pathology?].
- Author
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Ruiz Moreno M, Gutiérrez Gutiérrez MT, Rincón P, Alvarez-Sala L, and Camps MT
- Subjects
- Child, Humans, Hyperlipoproteinemia Type II genetics, Lipoproteins, LDL blood, Phenotype, Triglycerides blood, Hyperlipoproteinemia Type II blood
- Abstract
Out of 44 children (with 200 mg/dl cholesterol) 22, with constantly high levels of cholesterol were studied. All belong to a children population from Madrid which 95 percentile for cholesterol was 204 mg/dl. Fifty nine subjects, first degree relatives of these 22 children (17 families) plus probands were studied to determine if moderately elevated cholesterol levels during infancy are related to any form of familial lipidic disorder. Serum lipidic levels, anthropometric measurements, dietary habits a history of atherosclerotic cardiovascular disease (ACVD), were evaluated in all these 81 individuals. Hypercholesterolemia was encountered in 13 of the 59 non probands and high triglyceride levels in 6 people. More than one member of the family was to have some form of lipidic disorder in 12 of 17 families (71%) and in 10 the metabolic abnormality was of a type associated with a higher risk to suffer ACVD. Five families had a combined hyperlipidemia of the multiple lipoproteinemic (4 familiar heterozygotic hypercholesterolemia and one hyperlipidemia with a double phenotype II B and V). All family members were apparently healthy and had no knowledge of their underlying lipidic abnormality. In this group of families antecedents of morbi-mortality because of atherosclerosis were more frequent that in group control families. Authors conclude that a moderately elevated serum cholesterol level during infancy may be a marker for various familiar lipidic disorders. Detection in infantile population of serum cholesterol levels 200 mg/dl should prompt us to perform a more complete lipidic evaluation both in children as well as in their families.
- Published
- 1986
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