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1. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with Systemic Sclerosis in a large European cohort

Author

Airó P, Lie B A, Palm Ø, Nordin A, Padykov L, Claes K, Denton C, Fonseca C, Madhok R, Shiels P, Chee M M, Schuerwegh A J, Voskuyl A E, De Langhe E, Westhovens R, Smith V, De Keyser F, Houssiau F, Koeleman B P, Coenen MJH, Witte T, Riemekasten G, Hesselstrand R, González-Gay M A, Pros A, García de la Peña P, Follonosa V, Egurbide M V, Fernández-Nebro A, Gallego M, Castellví I, García-Hernández F J, Gómez-Gracia I, Román-Ivorra J A, Tolosa C, Rodríguez L, Vicente-Rabaneda E, González-Escribano M F, Navarrete N, Camps M T, Carreira P, Espinosa G, Ortego-Centeno N, Vonk M C, Beretta L, Simeon C P, Broen JCA, Bossini-Castillo L, Scorza R, van Laar J M, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Radstake TRDJ, Martín J, and Rueda B

Subjects
Medicine
Published
2010
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2. S.12.1 Is H1N1 influenza vaccine safe and effective in patients with SSc?

Author

Carmona, F., Gutala, R., Simeón, C. P., Carreira, P., Ortego Centeno, N., Vicente Rabaneda, E., García Hernández, F. J., García De La Peña, P., Fernández Castro, M., Martínez Estupiñán, L., Egurbide, M. V., Tsao, B. P, Gourh, P., Agarwal, S. K., Assassi, S., Mayes, M. D., Arnett, F. C., Tan, F. K., and Martín, J.

Published
2012

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

Author

Lopez-Isac, Elena, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Castellvi, Ivan, Bossini-Castillo, Lara, David Carmona, F., Orozco, Gisela, Hunzelmann, Nicolas, Distler, Joerg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Rios, R., Callejas, J. L., Vargas-Hitos, J. A., Garcia-Portales, R., Camps, M. T., Fernandez-Nebro, A., Gonzalez-Escribano, M. F., Garcia-Hernandez, F. J., Castillo, M. J., Aguirre, M. A., Gomez-Gracia, I., Fernandez-Gutierrez, B., Rodriguez-Rodriguez, L., Garcia de la Pena, P., Vicente, E., Andreu, J. L., Fernandez de Castro, M., Lopez-Longo, F. J., Martinez, L., Fonollosa, V, Guillen, A., Espinosa, G., Tolosa, C., Pros, A., Rodriguez-Carballeira, M., Narvaez, F. J., Rubio-Rivas, M., Ortiz-Santamaria, V, Madronero, A. B., Gonzalez-Gay, M. A., Diaz, B., Trapiella, L., Sousa, A., Egurbide, M. V., Fanlo-Mateo, P., Saez-Comet, L., Diaz, F., Hernandez, V, Beltran, E., Roman-Ivorra, J. A., Grau, E., Alegre-Sancho, J. J., Freire, M., Blanco-Garcia, F. J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airo, P., Magro, C., Voskuyl, A. E., Vonk, M. C., Hesselstrand, R., Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D., Martin, Javier, Lopez-Isac, Elena, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Castellvi, Ivan, Bossini-Castillo, Lara, David Carmona, F., Orozco, Gisela, Hunzelmann, Nicolas, Distler, Joerg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Rios, R., Callejas, J. L., Vargas-Hitos, J. A., Garcia-Portales, R., Camps, M. T., Fernandez-Nebro, A., Gonzalez-Escribano, M. F., Garcia-Hernandez, F. J., Castillo, M. J., Aguirre, M. A., Gomez-Gracia, I., Fernandez-Gutierrez, B., Rodriguez-Rodriguez, L., Garcia de la Pena, P., Vicente, E., Andreu, J. L., Fernandez de Castro, M., Lopez-Longo, F. J., Martinez, L., Fonollosa, V, Guillen, A., Espinosa, G., Tolosa, C., Pros, A., Rodriguez-Carballeira, M., Narvaez, F. J., Rubio-Rivas, M., Ortiz-Santamaria, V, Madronero, A. B., Gonzalez-Gay, M. A., Diaz, B., Trapiella, L., Sousa, A., Egurbide, M. V., Fanlo-Mateo, P., Saez-Comet, L., Diaz, F., Hernandez, V, Beltran, E., Roman-Ivorra, J. A., Grau, E., Alegre-Sancho, J. J., Freire, M., Blanco-Garcia, F. J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airo, P., Magro, C., Voskuyl, A. E., Vonk, M. C., Hesselstrand, R., Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D., and Martin, Javier

Abstract

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.

Published
2019

6. The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis

Author

Carmona, F.D., Martín, J. E., Beretta, L., Simeón, Carmen P., Carreira, P., Callejas-Rubio, J. L., Fernández-Castro, Monica, Sáez-Comet, L., Beltrán, E., Camps, M. T., Egurbide, M. V., Airó, Paolo, Scorza, R., Lunardi, C., Hunzelmann, Nicolas, Riemekasten, G., Witte, Torsten, Kreuter, A., Distler, J. H., Madhok, R., Shiels, Paul G., Laar, Jacob M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Schuerwegh, A. J., Vonk, Madelon C., Voskuyl, Alexandre E., Radstake, T. R., and Martín, J.

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.

Published
2013

7. Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

Author

Ochoa, E., Martin, J. -E., Assassi, S., Beretta, L., Carreira, P., Guillen, A., Simeon, C. P., Koumakis, E., Dieude, P., Allanore, Y., Garcia-Hernandez, F. J., Espinosa, G., Castellvi, I., Trapiella, J. L., Rodriguez, L., Gonzalez-Gay, M. A., Egurbide, M. V., Saez, L., Callejas-Rubio, J. L., Vargas-Hitos, J. A., Hunzelmann, N., Riemekasten, G., Witte, T., Distler, J. H. W., Kreuter, A., Lunardi, C., Santaniello, A., Tan, F. K., Shiels, P. G., Herrick, A., Worthington, J., Vonk, M. C., Koeleman, B. P., Radstake, T. R. D. J., Mayes, M. D., Martin, J., Ochoa, E., Martin, J. -E., Assassi, S., Beretta, L., Carreira, P., Guillen, A., Simeon, C. P., Koumakis, E., Dieude, P., Allanore, Y., Garcia-Hernandez, F. J., Espinosa, G., Castellvi, I., Trapiella, J. L., Rodriguez, L., Gonzalez-Gay, M. A., Egurbide, M. V., Saez, L., Callejas-Rubio, J. L., Vargas-Hitos, J. A., Hunzelmann, N., Riemekasten, G., Witte, T., Distler, J. H. W., Kreuter, A., Lunardi, C., Santaniello, A., Tan, F. K., Shiels, P. G., Herrick, A., Worthington, J., Vonk, M. C., Koeleman, B. P., Radstake, T. R. D. J., Mayes, M. D., and Martin, J.

Abstract

Objective. The current knowledge of the influence of systemic sclerosis (SSc) risk loci in the clinical sub-phenotypes is still limited. The main limitation lies in the low frequency of some sub-phenotypes which could be solved by replication studies in independent cohorts and meta-analysis between studies. In this regard, CCR6 gene variants have been recently associated with anti-topoisomerase I positive (ATA+) production in SSc patients in a candidate gene study. This gene has been proposed to have a critical role in IL-17-driven autoimmunity in human diseases. Methods. In order to confirm the association between CCR6 and ATA+ SSc patients, we performed an independent replication study in populations of European ancestry. We studied two CCR6 genetic variants (rs968334 and rs3093024) in a total of 901 ATA+ SSc cases, 3,258 ATA- SSc cases and 7,865 healthy controls and compared allelic frequencies for those SNPs in ATA+ SSc with healthy controls and also with ATA- SSc patients. Results. The comparison performed between ATA+ SSc patients and healthy controls showed significant association with SNP rs968334 (p=4.88 x 10(-2), OR= 1.11). When we compared ATA+ SSc cases with ATA- SSc, both SNPs, rs3093024 and rs968334, showed significant associations (p=2.89 x 10(-2), OR-1.13; p=1.69 x 10(-2), OR=1.15). Finally, in order to increase even more sample size and statistical power, we meta-analysed our study with the previous reported and found a significant association between SNP rs3093024 and ATA+ SSc patients (p= 1.00 x 10(-4), OR= 1.16) comparing with healthy controls. Conclusion. Our work confirms the association of CCR6 gene and ATA+ SSc patients.

Published
2015

8. KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor

Author

Bossini-Castillo, L., Simeón, Carmen P., Beretta, L., Broen, Jasper C., Vonk, Madelon C., Callejas-Rubio, J. L., Carreira, P., Rodríguez-Rodríguez, Luis, García-Portales, Rosa, González-Gay, M. A., Castellví, I., Camps, M. T., Tolosa, Carlos, Vicente, Esther, Egurbide, M. V., Spanish Scleroderma Group, Schuerwegh, A. J., Hesselstrand, R., Lunardi, C., Laar, Jacob M. van, Shiels, Paul G., Herrick, A., Worthington, J., Denton, C., Radstake, T. R., Fonseca, C., Martín, J., Bossini-Castillo, L., Simeón, Carmen P., Beretta, L., Broen, Jasper C., Vonk, Madelon C., Callejas-Rubio, J. L., Carreira, P., Rodríguez-Rodríguez, Luis, García-Portales, Rosa, González-Gay, M. A., Castellví, I., Camps, M. T., Tolosa, Carlos, Vicente, Esther, Egurbide, M. V., Spanish Scleroderma Group, Schuerwegh, A. J., Hesselstrand, R., Lunardi, C., Laar, Jacob M. van, Shiels, Paul G., Herrick, A., Worthington, J., Denton, C., Radstake, T. R., Fonseca, C., and Martín, J.

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.

Published
2012

9. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.

Author

Bossini-Castillo, L., Broen, Jasper C., Simeón, Carmen P., Beretta, L., Vonk, Madelon C., Ortego-Centeno, N., Espinosa, Gerard, Carreira, P., Camps, M. T., Navarrete, N., González-Escribano, María Francisca, Vicente, Esther, Rodríguez-Rodríguez, Luis, Tolosa, Carlos, Román-Ivorra, J. A., Gómez-Gracía, I., García-Hernández, Francisco José, Castellví, I., Gallego, María, Fernández-Nebro, Antonio, García-Portales, Rosa, Egurbide, M. V., Fonollosa, V., García de la Peña, P., Pros, A., González-Gay, M. A., Hesselstrand, R., Riemekasten, G., Witte, Torsten, Coenen, M. J., Koeleman, B. P., Houssiau, F., Smith, V., Keyser, F. de, Westhovens, R., Langhe, E. de, Voskuyl, Alexandre E., Schuerwegh, A. J., Chee, M. M., Madhok, R., Shiels, Paul G., Fonseca, C., Denton, C., Claes, K., Padyukov, Leonid, Nordin, A., Palm, Øyvind, Lie, B. A., Airó, Paolo, Scorza, R., Laar, Jacob M. van, Hunzelmann, Nicolas, Kreuter, A., Herrick, A., Worthington, J., Radstake, T. R., Martín, J., Rueda, B., Bossini-Castillo, L., Broen, Jasper C., Simeón, Carmen P., Beretta, L., Vonk, Madelon C., Ortego-Centeno, N., Espinosa, Gerard, Carreira, P., Camps, M. T., Navarrete, N., González-Escribano, María Francisca, Vicente, Esther, Rodríguez-Rodríguez, Luis, Tolosa, Carlos, Román-Ivorra, J. A., Gómez-Gracía, I., García-Hernández, Francisco José, Castellví, I., Gallego, María, Fernández-Nebro, Antonio, García-Portales, Rosa, Egurbide, M. V., Fonollosa, V., García de la Peña, P., Pros, A., González-Gay, M. A., Hesselstrand, R., Riemekasten, G., Witte, Torsten, Coenen, M. J., Koeleman, B. P., Houssiau, F., Smith, V., Keyser, F. de, Westhovens, R., Langhe, E. de, Voskuyl, Alexandre E., Schuerwegh, A. J., Chee, M. M., Madhok, R., Shiels, Paul G., Fonseca, C., Denton, C., Claes, K., Padyukov, Leonid, Nordin, A., Palm, Øyvind, Lie, B. A., Airó, Paolo, Scorza, R., Laar, Jacob M. van, Hunzelmann, Nicolas, Kreuter, A., Herrick, A., Worthington, J., Radstake, T. R., Martín, J., and Rueda, B.

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.

Published
2011

10. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.

Author

Bossini-Castillo, L., Simeón, Carmen P., Beretta, L., Vo, M. C., Callejas-Rubio, J. L., Espinosa, Gerard, Carreira, P., Camps, M. T., Rodríguez-Rodríguez, Luis, Rodríguez-Carballeira, Mónica, García-Hernández, Francisco José, López-Longo, Francisco Javier, Hernández-Hernández, V., Sáez-Comet, L., Egurbide, M. V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A. M., Vanthuyne, M., Smith, V., Langhe, E. de, Kreuter, A., Riemekasten, G., Witte, Torsten, Hunzelmann, Nicolas, Voskuyl, Alexandre E., Schuerwegh, A. J., Lunardi, C., Airó, Paolo, Scorza, R., Shiels, Paul G., Laar, Jacob M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Koeleman, B. P., Rueda, B., Radstake, T. R., Martín, J., Bossini-Castillo, L., Simeón, Carmen P., Beretta, L., Vo, M. C., Callejas-Rubio, J. L., Espinosa, Gerard, Carreira, P., Camps, M. T., Rodríguez-Rodríguez, Luis, Rodríguez-Carballeira, Mónica, García-Hernández, Francisco José, López-Longo, Francisco Javier, Hernández-Hernández, V., Sáez-Comet, L., Egurbide, M. V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A. M., Vanthuyne, M., Smith, V., Langhe, E. de, Kreuter, A., Riemekasten, G., Witte, Torsten, Hunzelmann, Nicolas, Voskuyl, Alexandre E., Schuerwegh, A. J., Lunardi, C., Airó, Paolo, Scorza, R., Shiels, Paul G., Laar, Jacob M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Koeleman, B. P., Rueda, B., Radstake, T. R., and Martín, J.

Abstract

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.

Published
2011

11. Low-dose aspirin vs low-dose aspirin plus low-intensity warfarin in thromboprophylaxis: a prospective, multicentre, randomized, open, controlled trial in patients positive for antiphospholipid antibodies (ALIWAPAS)

Author

Cuadrado, M. J., primary, Bertolaccini, M. L., additional, Seed, P. T., additional, Tektonidou, M. G., additional, Aguirre, A., additional, Mico, L., additional, Gordon, C., additional, Ruiz-Irastorza, G., additional, Egurbide, M. V., additional, Gil, A., additional, Espinosa, G., additional, Houssiau, F., additional, Rahman, A., additional, Martin, H., additional, McHugh, N., additional, Galindo, M., additional, Akil, M., additional, Amigo, M. C., additional, Murru, V., additional, and Khamashta, M. A., additional

Published
2013
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12. S.12.1 Is H1N1 influenza vaccine safe and effective in patients with SSc?

Author

Andrade, D., primary, Seguro, L., additional, Ribeiro, A., additional, Moraes, J., additional, Saad, C., additional, Aikawa, N., additional, Calich, A., additional, Viana, V., additional, Pasoto, S., additional, Levy-Neto, M., additional, Laurindo, I., additional, Timenestsky, M., additional, Precioso, A., additional, Bonfa, E., additional, Sampaio-Barros, P., additional, Wang, J. C., additional, Assassi, S., additional, Guo, G., additional, Tu, W. Z., additional, Tan, F. K., additional, Mayes, M. D., additional, Reveille, J. D., additional, Wu, W. Y., additional, Zou, H. J., additional, Zhao, Y. Q., additional, Chu, H. Y., additional, Liu, J., additional, Zhou, X. D., additional, Dieude, P., additional, Bouaziz, M., additional, Riemekasten, G., additional, Airo, P., additional, Muller, M., additional, Cusi, D., additional, Chiocchia, G., additional, Boileau, C., additional, Allanore, Y., additional, Carmona, F., additional, Gutala, R., additional, Simeon, C. P., additional, Carreira, P., additional, Ortego Centeno, N., additional, Vicente Rabaneda, E., additional, Garcia Hernandez, F. J., additional, Garcia De La Pena, P., additional, Fernandez Castro, M., additional, Martinez Estupinan, L., additional, Egurbide, M. V., additional, Tsao, B. P., additional, Gourh, P., additional, Agarwal, S. K., additional, Arnett, F. C., additional, and Martin, J., additional

Published
2012
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13. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with Systemic Sclerosis in a large European cohort

Author

Bossini-Castillo, L, primary, Broen, JCA, additional, Simeon, C P, additional, Beretta, L, additional, Vonk, M C, additional, Ortego-Centeno, N, additional, Espinosa, G, additional, Carreira, P, additional, Camps, M T, additional, Navarrete, N, additional, González-Escribano, M F, additional, Vicente-Rabaneda, E, additional, Rodríguez, L, additional, Tolosa, C, additional, Román-Ivorra, J A, additional, Gómez-Gracia, I, additional, García-Hernández, F J, additional, Castellví, I, additional, Gallego, M, additional, Fernández-Nebro, A, additional, Egurbide, M V, additional, Follonosa, V, additional, García de la Peña, P, additional, Pros, A, additional, González-Gay, M A, additional, Hesselstrand, R, additional, Riemekasten, G, additional, Witte, T, additional, Coenen, MJH, additional, Koeleman, B P, additional, Houssiau, F, additional, Smith, V, additional, De Keyser, F, additional, Westhovens, R, additional, De Langhe, E, additional, Voskuyl, A E, additional, Schuerwegh, A J, additional, Chee, M M, additional, Madhok, R, additional, Shiels, P, additional, Fonseca, C, additional, Denton, C, additional, Claes, K, additional, Padykov, L, additional, Nordin, A, additional, Palm, Ø, additional, Lie, B A, additional, Airó, P, additional, Scorza, R, additional, van Laar, J M, additional, Hunzelmann, N, additional, Kreuter, A, additional, Herrick, A, additional, Worthington, J, additional, Radstake, TRDJ, additional, Martín, J, additional, and Rueda, B, additional

Published
2010
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16. Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

Author

Ochoa, E., Martin, J. E., Assassi, S., Beretta, L., Patricia E Carreira, Guillen, A., Simeon, C. P., Koumakis, E., Dieude, P., Allanore, Y., Garcia-Hernandez, F. J., Espinosa, G., Castellvi, I., Trapiella, J. L., Rodriguez, L., Gonzalez-Gay, M. A., Egurbide, M. V., Saez, L., Callejas-Rubio, J. L., Vargas-Hitos, J. A., Hunzelmann, N., Riemekasten, G., Witte, T., Distler, J. H. W., Kreuter, A., Lunardi, C., Santaniello, A., Tan, F. K., Shiels, P. G., Herrick, A., Worthington, J., Vonk, M. C., Koeleman, B. P., Radstake, T. R. D. J., Mayes, M. D., Martin, J., and Spanish Seleroderma, Grp

Subjects
Receptors, CCR6, European Continental Ancestry Group, Type I, Polymorphism, Single Nucleotide, White People, Scleroderma, Gene Frequency, Autoantibodies, Biological Markers, Case-Control Studies, Chi-Square Distribution, DNA Topoisomerases, Type I, Europe, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Odds Ratio, Phenotype, Risk Factors, Scleroderma, Systemic, United States, Receptors, Polymorphism, skin and connective tissue diseases, integumentary system, Systemic, Single Nucleotide, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], CCR6, DNA Topoisomerases, Biomarkers
Abstract

Item does not contain fulltext OBJECTIVES: The current knowledge of the influence of systemic sclerosis (SSc) risk loci in the clinical sub-phenotypes is still limited. The main limitation lies in the low frequency of some sub-phenotypes which could be solved by replication studies in independent cohorts and meta-analysis between studies. In this regard, CCR6 gene variants have been recently associated with anti-topoisomerase I positive (ATA+) production in SSc patients in a candidate gene study. This gene has been proposed to have a critical role in IL-17-driven autoimmunity in human diseases. METHODS: In order to confirm the association between CCR6 and ATA+ SSc patients, we performed an independent replication study in populations of European ancestry. We studied two CCR6 genetic variants (rs968334 and rs3093024) in a total of 901 ATA+ SSc cases, 3,258 ATA- SSc cases and 7,865 healthy controls and compared allelic frequencies for those SNPs in ATA+ SSc with healthy controls and also with ATA- SSc patients. RESULTS: The comparison performed between ATA+ SSc patients and healthy controls showed significant association with SNP rs968334 (p=4.88 x 10-2, OR=1.11). When we compared ATA+ SSc cases with ATA- SSc, both SNPs, rs3093024 and rs968334, showed significant associations (p=2.89 x 10-2, OR=1.13; p=1.69 x 10-2, OR=1.15). Finally, in order to increase even more sample size and statistical power, we meta-analysed our study with the previous reported and found a significant association between SNP rs3093024 and ATA+ SSc patients (p=1.00 x 10-4, OR=1.16) comparing with healthy controls. CONCLUSIONS: Our work confirms the association of CCR6 gene and ATA+ SSc patients.

17. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population

Author

Bossini-Castillo, L., Simeon, C. P., Beretta, L., Vonk, M. C., Callejas-Rubio, J. L., Espinosa, G., Carreira, P., Camps, M. T., Rodríguez-Rodríguez, L., Rodríguez-Carballeira, M., García-Hernández, F. J., López-Longo, F. J., Hernández-Hernández, V., Sáez-Comet, L., Egurbide, M. V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A. M., Vanthuyne, M., Smith, V., Langhe, E., Kreuter, A., Riemekasten, G., Witte, T., Hunzelmann, N., Voskuyl, A. E., Schuerwegh, A. J., Lunardi, C., Airó, P., Scorza, R., Shiels, P., Laar, J. M., Fonseca, C., Denton, C., Herrick, A., Jane Worthington, Koeleman, B. P., Rueda, B., Radstake, T. R., Martin, J., Spanish Scleroderma Group, Rheumatology, and CCA - Innovative therapy

Subjects
Genetic Markers, Genotype, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Scleroderma, Rheumatology, Polymorphism (computer science), Odds Ratio, MIF gene, systemic sclerosis, Medicine, SNP, Humans, Pharmacology (medical), Genetic Predisposition to Disease, Allele, skin and connective tissue diseases, Macrophage Migration-Inhibitory Factors, Macrophage migration inhibitory factor, Scleroderma, Systemic, integumentary system, business.industry, Case-control study, Translational research Immune Regulation [ONCOL 3], Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Genetic marker, Case-Control Studies, Immunology, Systemic sclerosis, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], business, Polymorphisms
Abstract

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.

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