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21 results on '"Ortiz-Fernandez, Lourdes"'

1. Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study

Author

Callejas, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Díaz-López, J. Bernardino, García-Villanueva, María Jesús, Gómez-Vaquero, Carmen, Guijarro-Rojas, Mercedes, Hidalgo-Conde, Ana, Marí-Alfonso, Begoña, Martínez-Berriochoa, Agustín, Morado, Inmaculada C., Narváez, Javier, Ramentol-Sintas, Marc, Martínez-Zapico, Aleida, Martínez-Taboada, Víctor Manuel, Miranda-Filloy, José A., Monfort, Jordi, Pérez-Conesa, Mercedes, Prieto-González, Sergio, Raya, Enrique, Ríos-Fenández, Raquel, Sánchez-Martín, Julio, Sopeña, Bernardo, Tío, Laura, Unzurrunzaga, Ainhoa, Wordsworth, Oliver, Whitwell, Isobel, Brock, Jessica, Douglas, Victoria, Hettiarachchi, Chamila, Bartholomew, Jacqui, Jarrett, Stephen, Smithson, Gayle, Green, Michael, Brown, Pearl Clark, Lawson, Cathy, Gordon, Esther, Lane, Suzanne, Francis, Rebecca, Dasgupta, Bhaskar, Masunda, Bridgett, Calver, Jo, Patel, Yusuf, Thompson, Charlotte, Gregory, Louise, Levy, Sarah, Menon, Ajit, Thompson, Amy, Dyche, Lisa, Martin, Michael, Li, Charles, Laxminarayan, Ramasharan, Wilcox, Louise, de Guzman, Ralph, Isaacs, John, Lorenzi, Alice, Farley, Ross, Hinchcliffe-Hume, Helain, Bejarano, Victoria, Hope, Susan, Nandi, Pradip, Stockham, Lynne, Wilde, Catherine, Durrant, Donna, Lloyd, Mark, Ye, Chee-Seng, Stevens, Rob, Jilani, Amjad, Collins, David, Pegler, Suzannah, Rivett, Ali, Price, Liz, McHugh, Neil, Skeoch, Sarah, O'Kane, Diana, Kirkwood, Sue, Vadivelu, Saravanan, Pugmire, Susan, Sultan, Shabina, Dooks, Emma, Armstrong, Lisa, Sadik, Hala, Nandagudi, Anupama, Abioye, Tolu, Ramos, Angelo, Gumus, Steph, Sofat, Nidhi, Harrison, Abiola, Seward, Abi, Mollan, Susan, Rahan, Ray, Hawkins, Helen, Emsley, Hedley, Bhargava, Anna, Fleming, Vicki, Hare, Marianne, Raj, Sonia, George, Emmanuel, Allen, Nicola, Hunter, Karl, O'Sullivan, Eoin, Bird, Georgina, Magliano, Malgorzata, Manzo, Katarina, Sanghera, Bobbie, Hutchinson, David, Hammonds, Fiona, Sharma, Poonam, Cooper, Richard, McLintock, Graeme, Al-Saffar, Zaid S., Green, Mike, Elliott, Kerry, Neale, Tania, Mallinson, Janine, Lanyon, Peter, Pradere, Marie-Josephe, Jordan, Natasha, Htut, Ei Phyu, Mushapaidzi, Thelma, Abercrombie, Donna, Wright, Sam, Rowlands, Jane, Mukhtyar, Chetan, Kennedy, James, Makkuni, Damodar, Wilhelmsen, Elva, Kouroupis, Michael, John, Lily, Hughes, Rod, Walsh, Margaret, Buckley, Marie, Mackay, Kirsten, Camden-Woodley, Tracey, Redome, Joan, Pearce, Kirsty, Marianayagam, Thiraupathy, Cruz, Carina, Warner, Elizabeth, Atchia, Ishmael, Walker, Claire, Black, Karen, Duffy, Stacey, Fothergill, Lynda, Jefferey, Rebecca, Toomey, Jackie, Rhys-Dillon, Ceril, Pothecary, Carla, Green, Lauren, Toms, Tracey, Maher, Linda, Davis, Diana, Sayan, Amrinder, Thankachen, Mini, Abusalameh, Mahdi, Record, Jessica, Khan, Asad, Stafford, Sam, Hussein, Azza, Williams, Clare, Fletcher, Alison, Johson, Laura, Burnett, Richard, Moots, Robert, Frankland, Helen, Dale, James, Moar, Kirsten, Hollas, Carol, Parker, Ben, Ridings, Derek, Eapen, Sandhya, John, Sindhu, Robson, Jo, Guthrie, Lucy Belle, Fyfe, Rose, Tait, Moira, Marks, Jonathan, Gunter, Emma, Hernandez, Rochelle, Bhat, Smita, Johnston, Paul, Khurshid, Muhammad, Barclay, Charlotte, Kapur, Deepti, Jeffrey, Helen, Hughes, Anna, Slack, Lauren, Thomas, Eleri, Royon, Anna, Hall, Angela, King, Jon, Nyathi, Sindi, Morris, Vanessa, Castelino, Madhura, Hawkins, Ellie, Tomson, Linda, Singh, Animesh, Nunag, Annalyn, O'Connor, Stella, Rushby, Nathan, Hewitson, Nicola, O'Sunmboye, Kenny, Lewszuk, Adam, Boyles, Louise, Perry, Martin, Williams, Emma, Graver, Christine, Defever, Emmanuel, Kamanth, Sanjeet, Kay, Dominic, Ogor, Joe, Winter, Louise, Horton, Sarah, Welch, Gillian, Hollinshead, Kath, Peters, James, Labao, Julius, Dmello, Andrea, Dawson, Julie, Graham, Denise, De Lord, Denise, Deery, Jo, Hazelton, Tracy, Carette, Simon, Chung, Sharon, Cuthbertson, David, Forbess, Lindsy J., Gewurz-Singer, Ora, Hoffman, Gary S., Koening, Curry L., Maksimowicz-McKinnon, Kathleen M., McAlear, Carol A., Moreland, Larry W., Pagnoux, Christian, Seo, Philip, Specks, Ulrich, Spiera, Robert F., Sreih, Antoine, Warrington, Kenneth J., Monach, Paul A., Weisman, Michael, Borrego-Yaniz, Gonzalo, Ortiz-Fernández, Lourdes, Madrid-Paredes, Adela, Kerick, Martin, Hernández-Rodríguez, José, Mackie, Sarah L, Vaglio, Augusto, Castañeda, Santos, Solans, Roser, Mestre-Torres, Jaume, Khalidi, Nader, Langford, Carol A, Ytterberg, Steven, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Cimmino, Marco A, Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Pugnet, Gregory, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P, Voskuyl, Alexandre, Daikeler, Thomas, Berger, Christoph T, Molloy, Eamonn S, Blockmans, Daniel, van Sleen, Yannick, Iles, Mark, Sorensen, Louise, Luqmani, Raashid, Reynolds, Gary, Bukhari, Marwan, Bhagat, Shweta, Ortego-Centeno, Norberto, Brouwer, Elisabeth, Lamprecht, Peter, Klapa, Sebastian, Salvarani, Carlo, Merkel, Peter A, Cid, María C, González-Gay, Miguel A, Morgan, Ann W, Martin, Javier, and Márquez, Ana

Published
2024
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3. Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients

Author

Jo, Yun Gun, Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Keser, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Kısacık, Bünyamin, Kötter, Ina, Henes, Jörg, Çınar, Muhammet, Schaefer, Arne, Nohutcu, Rahime M., Takeuchi, Fujio, Harihara, Shinji, Kaburaki, Toshikatsu, Messedi, Meriam, Song, Yeong-Wook, Kaşifoğlu, Timuçin, Martin, Javier, González Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, and Sawalha, Amr H.

Published
2022
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4. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

Author

Ortiz-Fernández, Lourdes, Saruhan-Direskeneli, Güher, Alibaz-Oner, Fatma, Kaymaz-Tahra, Sema, Coit, Patrick, Kong, Xiufang, Kiprianos, Allan P., Maughan, Robert T., Aydin, Sibel Z., Aksu, Kenan, Keser, Gokhan, Kamali, Sevil, Inanc, Murat, Springer, Jason, Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Forbess, Lindsy, Langford, Carol A., McAlear, Carol A., Ozbalkan, Zeynep, Yavuz, Sule, Çetin, Gozde Yildirim, Alpay-Kanitez, Nilufer, Chung, Sharon, Ates, Askin, Karaaslan, Yasar, McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Ozer, Hüseyin T.E., Seyahi, Emire, Fresko, Izzet, Cefle, Ayse, Seo, Philip, Warrington, Kenneth J., Ozturk, Mehmet A., Ytterberg, Steven R., Cobankara, Veli, Onat, Ahmet Mesut, Duzgun, Nurşen, Bıcakcıgil, Muge, Yentür, Sibel P., Lally, Lindsay, Manfredi, Angelo A., Baldissera, Elena, Erken, Eren, Yazici, Ayten, Kısacık, Bünyamin, Kaşifoğlu, Timuçin, Dalkilic, Ediz, Cuthbertson, David, Pagnoux, Christian, Sreih, Antoine, Reales, Guillermo, Wallace, Chris, Wren, Jonathan D., Cunninghame-Graham, Deborah S., Vyse, Timothy J., Sun, Ying, Chen, Huiyong, Grayson, Peter C., Tombetti, Enrico, Jiang, Lindi, Mason, Justin C., Merkel, Peter A., Direskeneli, Haner, and Sawalha, Amr H.

Published
2021
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5. A strong Dysregulated Myeloid Component in the Epigenetic Landscape of Systemic Sclerosis: An Integrated DNA Methylome and Transcriptome Analysis.

Author

Martínez‐López, Javier, Ortiz‐Fernandez, Lourdes, Estupiñán‐Moreno, Elkyn, Kerick, Martin, Andrés‐León, Eduardo, Terron‐Camero, Laura C., Carnero‐Montoro, Elena, Barturen, Guillermo, Beretta, Lorenzo, Almeida, Isabel, Alarcón‐Riquelme, Marta E., Ballestar, Esteban, Acosta‐Herrera, Marialbert, and Martín, Javier

Abstract

Objective Methods Results Conclusion Nongenetic factors influence systemic sclerosis (SSc) pathogenesis, underscoring epigenetics as a relevant contributor to the disease. We aimed to unravel DNA methylation abnormalities associated with SSc through an epigenome‐wide association study.We analyzed DNA methylation data from whole‐blood samples in 179 patients with SSc and 241 unaffected individuals to identify differentially methylated positions (DMPs) with a false discovery rate (FDR) <0.05. These results were further integrated with RNA sequencing data from the same patients to assess their functional consequence. Additionally, we examined the impact of DNA methylation changes on transcription factors and analyzed the relationship between alterations of the methylation and gene expression profile and serum proteins levels.This analysis yielded 525 DMPs enriched in immune‐related pathways, with leukocyte cell–cell adhesion being the most significant (FDR = 4.91 × 10−9), prioritizing integrins as they were exposed by integrating methylome and transcriptome data. Furthermore, through this integrative approach, we observed an enrichment of neutrophil‐related pathways, highlighting this myeloid cell type as a relevant contributor in SSc pathogenesis. In addition, we uncovered novel profibrotic and proinflammatory mechanisms involved in the disease. Finally, the altered epigenetic and transcriptomic signature revealed an increased activity of CCAAT/enhancer‐binding protein transcription factor family in SSc, which is crucial in the myeloid lineage development.Our findings uncover the impaired epigenetic regulation of the disease and its impact on gene expression, identifying new molecules for potential clinical applications and improving our understanding of SSc pathogenesis. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Behçet’s Disease

Author

Ortiz-Fernández, Lourdes, González-Escribano, Maria Francisca, Emmi, Lorenzo, Series Editor, Prisco, Domenico, Series Editor, Martín, Javier, editor, and Carmona, Francisco David, editor

Published
2019
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7. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

Martínez-Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo-Conde, Ana, Madroñero-Vuelta, Ana B., Fernández-Nebro, Antonio, Ordóñez-Cañizares, M. Carmen, Escalante, Begoña, Marí-Alfonso, Begoña, Sopeña, Bernardo, Magro, César, Raya, Enrique, Grau, Elena, Román, José A., de Miguel, Eugenio, López-Longo, F. Javier, Martínez, Lina, Gómez-Vaquero, Carmen, Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Luis, Díaz-López, J. Bernardino, Caminal-Montero, Luis, Martínez-Zapico, Aleida, Monfort, Jordi, Tío, Laura, Sánchez-Martín, Julio, Alegre-Sancho, Juan J., Sáez-Comet, Luis, Pérez-Conesa, Mercedes, Corbera-Bellalta, Marc, García-Villanueva, M. Jesús, Fernández-Contreras, M. Encarnación, Sanchez-Pernaute, Olga, Blanco, Ricardo, Ortego-Centeno, Norberto, Ríos-Fernández, Raquel, Callejas, José L., Fanlo-Mateo, Patricia, Martínez-Taboada, Víctor M., Carmona, F. David, Mackie, Sarah L., Martín, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castañeda, Santos, Cid, Maria C., Hernández-Rodríguez, José, Prieto-González, Sergio, Solans, Roser, Ramentol-Sintas, Marc, González-Escribano, M. Francisca, Ortiz-Fernández, Lourdes, Morado, Inmaculada C., Narváez, Javier, Miranda-Filloy, José A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schönau, Verena, Franke, Andre, Palm, Øyvind, Molberg, Øyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg, Steven R., Gregersen, Peter K., Pease, Colin T., Gough, Andrew, Green, Michael, Hordon, Lesley, Jarrett, Stephen, Watts, Richard, Levy, Sarah, Patel, Yusuf, Kamath, Sanjeet, Dasgupta, Bhaskar, Worthington, Jane, Koeleman, Bobby P.C., de Bakker, Paul I.W., Barrett, Jennifer H., Salvarani, Carlo, Merkel, Peter A., González-Gay, Miguel A., Morgan, Ann W., and Martín, Javier

Published
2015
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8. Evaluación de respuesta epidemiológica durante la pandemia covid-19. Una revisión Sistemática

Author

Ortiz Fernandez, Lourdes Patricia, Rodriguez Pañora, Patricia Elizabeth, and 030166658-2

Subjects
Evaluación de respuesta epidemiológica durante la pandemia covid-19. Una revisión Sistemática
Abstract

Introducción: La epidemiología estudia la distribución, la gravedad de los problemas de salud y la etiología de los mismos, en 2019 surge el COVID-19, que luego se convirtió en una pandemia, trayendo consigo cambios a nivel social, económico y sanitario, conllevando a la respuesta rápida de los sistemas sanitarios. Objetivo: Describir la respuesta epidemiológica durante la pandemia COVID 19 y con ello, aportar con un estudio que pueda servir de antecedente para futuros trabajos investigativos. Material y método: Se planteó una revisión sistemática de la literatura mediante el método PRISMA para selección de artículos. Los criterios de búsqueda se basaron en las palabras clave: respuesta epidemiológica, nivel de atención, COVID-19 y pandemia, concatenadas con conectores lógicos AND. Se filtraron archivos publicados en los últimos cinco años en idioma inglés y español, para analizar un total de 33 artículos orientados a la temática planteada. Resultados: Existe concordancia en las investigaciones en cuanto a la aparición y evolución del COVID -19, así como la activación de las respuestas epidemiológicas de organismos internacionales, como a nivel país cuyo objetivo fundamental era contener la expansión de la enfermedad. Conclusión: La pandemia del COVID-19, es una enfermedad emergente que apareció en 2019 en Wuhan, causando cambios en todas las esferas de la vida de las personas, sobre todo en el sanitario, ya que, a nivel mundial, así como a nivel país no se tenían estrategias de contención frente a emergencias sanitarias como la actual, lo cual acarreo estrategias de prevención en base a respuestas epidemiológicas. Palabras Clave: respuesta epidemiológica, nivel de atención, covid-19 y pandemia. Epidemiology studies the distribution, health problems severity, and their etiology. In 2019, COVID-19 emerged, which later became a pandemic bringing with it social, economic, and health changes, leading to the speedy response of health systems around the world. Objective: To evaluate the epidemiological response during the COVID-19 pandemic and thereby contribute to a study that can serve as a background for future research. Material and method: A systematic review of the literature was carried out using the PRISMA method for article selection. The search criteria were based on the keywords: epidemiological response, level of care, COVID-19, and pandemic, concatenated with logical AND connectors. Articles published in the last five years both in English and Spanish were filtered; finally, 33 articles oriented to the proposed theme were analyzed. Results: There is an agreement in the investigations regarding the appearance and evolution of COVID -19, as well as the activation of the epidemiological responses of international organizations, as well as at the country level, whose fundamental objective was to contain the spread of the disease. Conclusion: The COVID-19 pandemic is an emerging disease that appeared in 2019 in Wuhan, triggering changes in all spheres of people's lives, especially in health, since, there were no containment strategies in the country for health emergencies such as the current one, leading to prevention strategies based on epidemiological responses. Keywords: epidemiological response, level of care, covid-19, pandemic Trabajo de investigación

Published
2022

13. Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus

Author

Gonzalez-Serna, David, Ortiz-Fernandez, Lourdes, Vargas, S., Garcia, A., Raya, E., Fernandez-Gutierrez, B., Kiemeney, L.A., Coenen, M.J.H., Angel Gonzalez-Gay, Miguel, Martin, J., Gonzalez-Serna, David, Ortiz-Fernandez, Lourdes, Vargas, S., Garcia, A., Raya, E., Fernandez-Gutierrez, B., Kiemeney, L.A., Coenen, M.J.H., Angel Gonzalez-Gay, Miguel, and Martin, J.

Abstract

Contains fulltext : 191885.pdf (publisher's version ) (Open Access)

Published
2018

14. Dense Genotyping of Immune Related Loci in a Multi-Ethnic Behcet's Disease Cohort Identifies Genetic Associations in a Long Noncoding RNA Near QSOX2, RASIP1/FUT2, and IL12A-AS1

Author

Renauer, Paul, Coit, Patrick, Hughes, Travis, Ognenovski, Mikhail, Adler, Adam, Ortiz-Fernandez, Lourdes, Yilmaz, Vuslat, Aksu, Kenan, Duzgun, Nursen, Keser, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Casali, Bruno, Koetter, Ina, Zhernakova, Alexandra, Wijmenga, Cisca, Takeuchi, Fujio, Harihara, Shinji, Kaburaki, Toshikatsu, Song, Yeong Wook, David Carmona, Francisco, Alarcon Riquelme, Marta E., Martin, Javier, Saruhan-Direskeneli, Guher, Gonzalez Escribano, Maria Francisca, Direskeneli, Haner, Sawalha, Amr H., Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), and Translational Immunology Groningen (TRIGR)

Published
2016

15. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., and Spanish GCA Grp

Subjects
PRIMARY BILIARY-CIRRHOSIS, FOXP3 EXPRESSION, TYROSINE-PHOSPHATASE PTPN22, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, NF-KAPPA-B, Journal Article, ATOPIC-DERMATITIS, POLYMYALGIA-RHEUMATICA, GENOME-WIDE ASSOCIATION, EXTENDED HUMAN MHC, RISK LOCI, RHEUMATOID-ARTHRITIS
Abstract

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 x 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DR beta 1 and HLA-DQ alpha 1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1*04. An omnibus test on polymorphic amino acid positions highlighted DR beta 1 13 (p = 4.08 x 10(-43)) and HLA-DQ alpha 1 47 (p = 4.02 x 10(-46)), 56, and 76 (both p = 1.84 x 10(-45)) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 x 10(-6), OR = 1.38), LRRC32 (rs10160518, p = 4.39 x 10(-6), OR = 1.20), and REL (rs115674477, p = 1.10 x 10(-5), OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function.

Published
2015

16. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

Genetica Groep Koeleman, Child Health, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., Spanish GCA Grp, Genetica Groep Koeleman, Child Health, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., and Spanish GCA Grp

Published
2015

18. Interaction between host and viral genotypes influenced hepatitis C infection

Author

Rojas, Lourdes A., Del Campo, Jose A., Ampuero, Javier, Ortiz-Fernandez, Lourdes, Maraver Zamora, Marta, Rojas, Angela, Conde, Marta, Garcia-Valdecasas, Marta, Raul Garcia-Lozano, Jose, Forns, Xavier, Sola, Ricard, Moreno-Otero, Ricardo, Andrade, R. J., Diago, Moises, Salmeron, Javier, Garcia-Samaniego, Javier, Pons, Jose A., Navarro, J. M., Calleja, Jose L., Luis Rodrigo, Buti-Ferret, Maria, Milian, Raquel, Gonzalez-Escribano, Maria F., and Romero-Gomez, Manuel

19. KLF12 polymorphism improves ITPA predictability of anemia in hepatitis C treated with peginterferon plus ribavirin

Author

Ampuero, Javier, Del Campo, Jose A., Rojas, Lourdes, Ortiz-Fernandez, Lourdes, Rojas, Angela, Conde, Marta, Garcia-Valdecasas, Marta, Garcia-Lozano, Jose-Raul, Sola, Ricard, Forns, Xavier, Moreno-Otero, Ricardo, Andrade, Raul J., Diago, Moises, Salmeron, Javier, Rodrigo, Luis, Pons, Jose A., Navarro, J. M., Luis Calleja, Jose, Garcia-Samaniego, Javier, Buti, Maria, Millan, Raquel, Gonzalez-Escribano, Maria F., and Manuel Romero-Gómez

20. PNPLA3 and DISC1 are associated with steatosis in patients with chronic hepatitis C

Author

Ampuero, Javier, Del Campo, Jose A., Rojas, Lourdes A., Ortiz-Fernandez, Lourdes, Maraver, Marta, Rojas, Angela, Conde, Marta, Garcia-Valdecasas, Marta, Raul Garcia-Lozano, Jose, Sola, Ricard, Forns, Xavier, Moreno-Otero, Ricardo, Andrade, Raul J., Diago, Moises, Salmeron, Javier, Luis Rodrigo, Pons, Jose A., Navarro, J. M., Calleja, Jose L., Garcia-Samaniego, Javier, Buti, Maria, Millan, Raquel, Francisca Gonzalez-Escribano, M., and Romero-Gomez, Manuel

21. Genetic Analysis with the Immunochip Platform in Behcet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci

Author

Ortiz-Fernández, Lourdes, Carmona, F. David, Montes-Cano, Marco-Antonio, García-Lozano, José-Raúl, Conde-Jaldón, Marta, Ortego-Centeno, Norberto, Castillo, María Jesús, Espinosa, Gerard, Graña, Jenaro, Sánchez-Bursón, Juan, Juliá, María Rosa, Solans, Roser, Blanco, Ricardo, Barnosi-Marín, Ana-Celia, Gómez de la Torre, Ricardo, Fanlo, Patricia, Rodríguez-Carballeira, Mónica, Rodriguez-Rodriguez, Luis, Camps i Miró, Teresa, Castañeda, Santos, Alegre-Sancho, Juan José, Martín, Javier, González-Escribano, María Francisca, Universitat Autònoma de Barcelona, [Ortiz-Fernandez, Lourdes] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Montes-Cano, Marco-Antonio] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Garcia-Lozano, Jose-Raul] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Conde-Jaldon, Marta] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Francisca Gonzalez-Escribano, Maria] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Carmona, Francisco-David] PTS Granada, CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18016, Spain, [Martin, Javier] PTS Granada, CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18016, Spain, [Ortego-Centeno, Norberto] Hosp Clin San Cecilio, Dept Internal Med, Granada 18003, Spain, [Jesus Castillo, Maria] Hosp Univ Virgen Rocio, Dept Internal Med, Seville 41003, Spain, [Espinosa, Gerard] Hosp Univ Clin, Dept Autoimmune Dis, Barcelona 08036, Spain, [Grana-Gil, Genaro] Dept Rheumatol, Complejo Hosp Univ A Coruna, La Coruna 15006, Spain, [Sanchez-Burson, Juan] Hosp Univ Valme, Dept Rheumatol, Seville 41014, Spain, [Rosa Julia, Maria] Hosp Univ Son Espases, Dept Immunol, Palma de Mallorca 07120, Spain, [Solans, Roser] Univ Autonoma Barcelona, Hosp Vall Hebron, Autoimmune Syst Dis Unit, Dept Internal Med, Barcelona 08035, Spain, [Blanco, Ricardo] Hosp Univ Marques Valdecilla, Dept Rheumatol, Santander 39008, Spain, [Barnosi-Marin, Ana-Celia] Dept Internal Med, Complejo Hosp Torrecardenas, Almeria 04009, Spain, [Gomez de la Torre, Ricardo] Hosp Univ Cent Asturias, Dept Internal Med, Asturias 33011, Spain, [Fanlo, Patricia] Hosp Virgen Camino, Dept Internal Med, Pamplona 31008, Spain, [Rodriguez-Carballeira, Monica] Hosp Univ Mutua Terrassa, Dept Internal Med, Terrassa 08221, Spain, [Rodriguez-Rodriguez, Luis] Hosp Clin San Carlos, Dept Rheumatol, Madrid 28040, Spain, [Camps, Teresa] Hosp Reg Univ Malaga, Dept Internal Med, Malaga 29010, Spain, [Castaneda, Santos] IIS Princesa, Hosp Princesa, Dept Rheumatol, Madrid 28006, Spain, [Alegre-Sancho, Juan-Jose] Hosp Univ Doctor Peset, Dept Rheumatol, Valencia 46017, Spain, Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII), Fondos FEDER, Plan Andaluz de Investigacion, ISCIII, RETICS Program (RIER, ISCIII), Instituto de Salud Carlos III, Junta de Andalucía, Red de Investigación en Inflamación y Enfermedades Reumáticas (España), [Ortiz-Fernández,L, Montes-Cano,MA, García-Lozano,JR, Conde-Jaldón,M, González-Escribano,MF] Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain. [Carmona,FD, Martín,J] Instituto de Parasitología y Biomedicina 'López-Neyra', CSIC, Granada, Spain. [Ortego-Centeno,N] Department of Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain. [Castillo,MJ] Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Espinosa,G] Department Autoimmune Diseases, Hospital Universitari Clínic, Barcelona, Spain. [Graña-Gil,G] Department of Rheumatology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain. [Sánchez-Bursón,J] Department of Rheumatology, Hospital Universitario de Valme, Sevilla, Spain. [Juliá,MR] Department of Immunology, Hospital Universitari Son Espases, Palma de Mallorca, Spain. [Solans,R] Department of Internal Medicine, Autoimmune Systemic Diseases Unit, Hospital Vall d’Hebron, Universidad Autonoma de Barcelona, Barcelona, Spain. [Blanco,R] Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Barnosi-Marín,AC] Department of Internal Medicine, Complejo Hospitalario Torrecárdenas, Almería, Spain. [Gómez de la Torre,R] Department of Internal Medicine, Hospital Universitario Central de Asturias, Asturias, Spain. [Fanlo,P] Department of Internal Medicine, Hospital Virgen del Camino, Pamplona, Spain. [Rodríguez-Carballeira,M] Deparment of Internal Medicine, Hospital Universitari Mútua Terrassa, Terrassa, Spain. [Rodríguez-Rodríguez,L] Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain. [Camps,T] Department of Internal Medicine, Hospital Regional Universitario de Málaga, Málaga, Spain. [Castañeda,S] Department of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid, Spain. [Alegre-Sancho,JJ] Department of Rheumatology, Hospital Universitario Doctor Peset, Valencia, Spain., and This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197). LOF is the recipient of a fellowship (ISCIII, FI11/00547) and FDC was funded by the RETICS Program (RIER, ISCIII, RD12/0009/0013).

Subjects
alelos, modelos logísticos, Genes clase I del complejo de histocompatibilidad (MHC), España, frecuencia génica, sitios genéticos, lcsh:Science, Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [Medical Subject Headings], Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Histocompatibility Antigens Class I::HLA-B Antigens [Medical Subject Headings], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Immunoassay, education.field_of_study, Behcet Syndrome, Genomics, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models, Statistical::Logistic Models [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Mhc class-i, Genotyping, estudios de casos y controles, Locus (genetics), Human leukocyte antigen, subunidad p35 de la interleucina-12, 03 medical and health sciences, Contactins, Rheumatoid-arthritis, Genetics, Genome-Wide Association Studies, Genetic predisposition, Humans, Molecular Biology Techniques, education, Molecular Biology, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Amino Acids [Medical Subject Headings], síndrome de Behçet, Alleles, Molecular Biology Assays and Analysis Techniques, Sclerosis, lcsh:R, Biology and Life Sciences, Computational Biology, Receptors, Interleukin, 030104 developmental biology, Logistic Models, Genetic Loci, HLA-B Antigens, Case-Control Studies, lcsh:Q, Síndrome de Behçet, Genotipo, Models, Molecular, 0301 basic medicine, humanos, lcsh:Medicine, HLA-A3 Antigen, Genetic analysis, Geographical Locations, Gene Frequency, antígeno HLA-A3, Il23r-il12rb2, Aminoácidos, Multidisciplinary, antígeno HLA-B51, Genome-wide association, Antígenos HLA-B, antígenos HLA-B, Modelos logísticos, Europe, Peptide, Amino Acid Analysis, HLA-B51 Antigen, Alelos, Research Article, Risk, Population, Biology, Research and Analysis Methods, Genetic Predisposition, inmunoanálisis, Interleukin-12 Subunit p35, Genetic Predisposition to Disease, Allele, Allele frequency, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], Imputation, contactinas, Human Genetics, predisposición genética a la enfermedad, Binding, Genome Analysis, Microarray Analysis, Spain, Genetics of Disease, People and Places, análisis por micromatrices, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Major Histocompatibility Complex::Genes, MHC Class I [Medical Subject Headings]
Abstract

Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6.82E-32, OR = 3.82). A step-wise conditional logistic regression with classical alleles identified HLA-B*57 and HLA-A*03 as additional independent markers. The amino acid model that best explained the association, includes the position 97 of the HLA-B molecule and the position 66 of the HLA-A. Among the non-HLA loci, the most significant in the discovery analysis were: IL23R (rs10889664: P = 3.81E-12, OR = 2.00), the JRKL/CNTN5 region (rs2848479: P = 5.00E-08, OR = 1.68) and IL12A (rs1874886: P = 6.67E-08, OR = 1.72), which were confirmed in the validation phase (JRKL/CNTN5 rs2848479: P = 3.29E-10, OR = 1.66; IL12A rs1874886: P = 1.62E-08, OR = 1.61). Our results confirm HLA-B*51 as a primary-association marker in predisposition to BD and suggest additional independent signals within the class I region, specifically in the genes HLA-A and HLA-B. Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region., This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197). LOF is the recipient of a fellowship (ISCIII, FI11/00547) and FDC was funded by the RETICS Program (RIER, ISCIII, RD12/0009/0013). Instituto de Salud Carlos III Junta de Andalucía Red de Investigación en Inflamación y Enfermedades Reumáticas (España) RIER

Published
2016

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