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3. Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study

Author

Renauer, Paul A., Saruhan-Direskeneli, Guher, Coit, Patrick, Adler, Adam, Aksu, Kenan, Keser, Gokhan, Alibaz-Oner, Fatma, Aydin, Sibel Z., Kamali, Sevil, Inanc, Murat, Carette, Simon, Cuthbertson, David, Hoffman, Gary S., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Langford, Carol A., Maksimowicz-McKinnon, Kathleen, McAlear, Carol A., Ozbalkan, Zeynep, Ates, Askin, Karaaslan, Yasar, Duzgun, Nursen, Monach, Paul A., Ozer, Huseyin T. E., Erken, Eren, Ozturk, Mehmet A., Yazici, Ayten, Cefle, Ayse, Onat, Ahmet Mesut, Kisacik, Bunyamin, Pagnoux, Christian, Kasifoglu, Timucin, Seyahi, Emire, Fresko, Izzet, Seo, Philip, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg, Steven R., Cobankara, Veli, Cunninghame-Graham, Deborah S., Vyse, Timothy J., Pamuk, Omer N., Tunc, Ercan S., Dalkilic, Ediz, Bicakcigil, Muge, Yentur, Sibel P., Wren, Jonathan D., Merkel, Peter A., Direskeneli, Haner, and Sawalha, Amr H.

Published
2015
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4. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

Author

Ortiz-Fernandez, Lourdes, Saruhan-Direskeneli, Guher, 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, Cetin, Gozde Yildirim, Alpay-Kanitez, Nilufer, Chung, Sharon, Ates, Askin, Karaaslan, Yasar, McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Ozer, Huseyin 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, Nursen, Bicakcigil, Muge, Yentur, Sibel P., Lally, Lindsay, Manfredi, Angelo A., Baldissera, Elena, Erken, Eren, Yazici, Ayten, Kisacik, Bunyamin, Kasifoglu, Timucin, 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, Sawalha, Amr H., Ortiz-Fernandez, Lourdes, Saruhan-Direskeneli, Guher, 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, Cetin, Gozde Yildirim, Alpay-Kanitez, Nilufer, Chung, Sharon, Ates, Askin, Karaaslan, Yasar, McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Ozer, Huseyin 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, Nursen, Bicakcigil, Muge, Yentur, Sibel P., Lally, Lindsay, Manfredi, Angelo A., Baldissera, Elena, Erken, Eren, Yazici, Ayten, Kisacik, Bunyamin, Kasifoglu, Timucin, 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.

Abstract

Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 x 10(-s)) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.

Published
2021
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16. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

Author

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

Published
2021
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23. THE EFFECT OF METABOLIC SYNDROME ON CARDIOVASCULAR DISEASE AND CUMULATIVE ORGAN DAMAGE IN TAKAYASU'S ARTERITIS

Author

Kamali, Sevil, Kanitez, Nilufer Alpay, Tahra, Sema Kaymaz, YAZICI, AYTEN, ÇEFLE, AYŞE, Kara, Mete, Yarkan-Tugsal, Handan, Gercik, Onay, AKAR, SERVET, AKSU, KENAN, KESER, GÖKHAN, Bes, Cemal, ALİBAZ ÖNER, FATMA, DİRESKENELİ, RAFİ HANER, ÖNEN, FATOŞ, and Ege Üniversitesi

Abstract

Annual European Congress of Rheumatology (EULAR) -- JUN 12-15, 2019 -- Madrid, SPAIN, WOS: 000472207105269, European League Against Rheumatism

Published
2019

25. Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy (Scientific Reports (2017) 7 (43953) DOI: 10.1038/srep43953)

Author

Martínez Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández Nebro, Antonio, Carmen Ordóñez Cañizares, M., Fernández Gutiérrez, Benjamín, Rodríguez Rodríguez, Luis, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz López, J., Caminal Montero, Luis, Martínez Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez Martín, Julio, Alegre Sancho, Juan J., Sáez Comet, Luis, Conesa, Mercedes Pérez, Corbera Bellalta, Marc, Ramentol Sintas, Marc, García Villanueva, María Jesús, Rojas, Mercedes Guijarro, Ortego Centeno, Norberto, Fernández, Raquel Ríos, Callejas, José Luis, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez T.a.b.o.a.d.a.1.1. Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, ADDIMANDA, OLGA, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. C.i.m.m.i.n.o.5.2. Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar K.a.r.a.a.s.l.a.n.7.3. Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg87, Steven R. ., Martínez-Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo-Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández-Nebro, Antonio, Carmen Ordóñez-Cañizares, M., Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Lui, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez-Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López-Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz-López, J., Caminal-Montero, Lui, Martínez-Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez-Martín, Julio, Alegre-Sancho, Juan J., Sáez-Comet, Lui, Conesa, Mercedes Pérez, Corbera-Bellalta, Marc, Ramentol-Sintas, Marc, García-Villanueva, María Jesú, Rojas, Mercedes Guijarro, Ortego-Centeno, Norberto, Fernández, Raquel Río, Callejas, José Lui, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez-Taboada11.Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. Cimmino52. Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fato, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz-Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar Karaaslan73. Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., and Ytterberg87, Steven R. .

Subjects
Multidisciplinary, skin and connective tissue diseases
Abstract

Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/ MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.

Published
2017

26. Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

Author

Martínez Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández Nebro, Antonio, Carmen Ordóñez Cañizares, M., Fernández Gutiérrez, Benjamín, Rodríguez Rodríguez, Luis, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz López, J., Caminal Montero, Luis, Martínez Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez Martín, Julio, Alegre Sancho, Juan J., Sáez Comet, Luis, Conesa, Mercedes Pérez, Corbera Bellalta, Marc, Ramentol Sintas, Marc, García Villanueva, María Jesús, Rojas, Mercedes Guijarro, Ortego Centeno, Norberto, Fernández, Raquel Ríos, Callejas, José Luis, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez T.a.b.o.a.d.a.1.1. Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, ADDIMANDA, OLGA, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. Cimmino52 Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar Karaaslan73 Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg87, Steven R. ., Universidad de Cantabria, David Carmona, F., Coit, Patrick, Saruhan-Direskeneli, Guher, Hernandez-Rodriguez, Jose, Cid, Maria C., Solans, Roser, Castaneda, Santos, Vaglio, Augusto, Direskeneli, Haner, Merkel, Peter A., Boiardi, Luigi, Salvarani, Carlo, Gonzalez-Gay, Miguel A., Martin, Javier, Sawalha, Amr H., Institut Català de la Salut, [Carmona FD] Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, PTS Granada, Granada, Spain. Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada 18016, Spain. [Coit P] Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA. [Saruhan-Direskeneli G] Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. [Hernández-Rodríguez J, Cid MC] Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. [Solans R] Unitat de Malalties Autoimmunes Sistèmiques, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Martínez-Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo-Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández-Nebro, Antonio, Carmen Ordóñez-Cañizares, M., Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Lui, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez-Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López-Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz-López, J., Caminal-Montero, Lui, Martínez-Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez-Martín, Julio, Alegre-Sancho, Juan J., Sáez-Comet, Lui, Conesa, Mercedes Pérez, Corbera-Bellalta, Marc, Ramentol-Sintas, Marc, García-Villanueva, María Jesú, Rojas, Mercedes Guijarro, Ortego-Centeno, Norberto, Fernández, Raquel Río, Callejas, José Lui, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez-Taboada11.Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. Cimmino52 Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fato, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz-Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar Karaaslan73 Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg87, Steven R. ., and Universitat de Barcelona

Subjects
Male, 0301 basic medicine, PATHOGENESIS, enfermedades cardiovasculares::enfermedades vasculares::vasculitis [ENFERMEDADES], Genome-wide association study, Cardiovascular Diseases::Vascular Diseases::Vasculitis [DISEASES], 0302 clinical medicine, vasculitides, Immunochip strategy, HLA Antigens, RHEUMATOLOGY 1990 CRITERIA, Medicine, skin and connective tissue diseases, Genetics, RISK, Multidisciplinary, Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell Arteritis [DISEASES], TAKAYASU ARTERITIS, ASSOCIATION, Genomics, Corrigenda, predisposición, 3. Good health, enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes [ENFERMEDADES], Female, meta-Immunochip strategy, Vasculitis, Genotype, SUSCEPTIBILITY LOCI, Giant Cell Arteritis, Locus (genetics), POLYMYALGIA-RHEUMATICA, Human leukocyte antigen, Genetic correlation, 03 medical and health sciences, GIANT-CELL ARTERITIS, Genetic Pleiotropy, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Arteritis, Genotyping, Arteritis de cèl·lules gegants, 030203 arthritis & rheumatology, Polymorphism, Genetic, IDENTIFICATION, business.industry, medicine.disease, common genetic component, Takayasu Arteritis, Giant cell arteritis, Genòmica, 030104 developmental biology, business, INFLAMMATORY-BOWEL-DISEASE, arge-vessel vasculitides
Abstract

Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus., This work was supported by SAF2012– 34435 from the Spanish Ministry of Economy and Competitiveness, BIO-1395 from Junta de Andalucía, and RD12/0009/0004 from the RETICS Program (RIER) of Instituto de Salud Carlos III (ISCIII). FDC was recipient of a grant from the ‘Ramón y Cajal’ programme of the Spanish Ministry of Economy and Competitiveness (RYC-2014–16458). MCC and JHR are supported by Ministerio de Economía y Competitividad (SAF 14/57708R), cofunded by “Fondo Europeo de Desarrollo Regional, Unión Europea, Una manera de hacer Europa” [Instituto de Salud Carlos III and Fondo Europeo de desarrollo regional (FEDER) (PIE 13/00033)]. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR057319), the National Center for Research Resources (U54 RR019497), the Office of Rare Diseases Research, and the National Center for Advancing Translational Science. The VCRC is part of the Rare Diseases Clinical Research Network (RDCRN).

Published
2017

28. Correction: Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

Author

Castañeda, Santos, Ytterberg, Steven R, Warrington, Kenneth J, Sreih, Antoine G, Spiera, Robert, Seo, Philip, Pagnoux, Christian, Moreland, Larry, Monach, Paul A, McKinnon-Maksimowicz, Kathleen, McAlear, Carol A, Langford, Carol A, Koening, Curry L, Khalidi, Nader A, Hoffman, Gary S, Forbess, Lindsay J, Cuthbertson, David, Chung, Sharon A, Carette, Simon, Karaaslan, Yasar, Ates, Askin, Ozbalkan, Zeynep, Cobankara, Veli, Kaşifoğlu, Timuçin, Alibaz-Oner, Fatma, Aydin, Sibel Z, Yentür, Sibel P, Inanc, Murat, Kamali, Sevil, Akkoc, Nurullah, Onen, FATOŞ, Akar, Servet, Pamuk, Ömer N, Kiraz, Sedat, Karadag, Omer, Duzgun, Nurşen, Bıcakcıgil, Muge, Ozturk, Mehmet A, Keser, Gokhan, Aksu, Kenan, Te Ozer, Hüseyin, Erken, Eren, Tunc, Ercan, Fresko, Izzet, Seyahi, Emire, Dalkilic, Ediz, Kısacık, Bünyamin, Yazici, Ayten, Cefle, Ayse, Mesut Onat, Ahmet, Cimmino, Marco A, Govoni, Marcello, Beretta, Lorenzo, Ramirez, Giuseppe A, Emmi, Giacomo, Addimanda, Olga, Pazzola, Giulia, Muratore, Francesco, Bonatti, Francesco, Santilli, Daniele, Gianfreda, Davide, Lunardi, Claudio, Soriano, Alessandra, Martínez-Taboada, Víctor Manuel, Prieto-González, Sergio, Blanco, Ricardo, Fanlo Mateo, Patricia, Sanchez Pernaute, Olga, Callejas, José Luis, Ríos Fernández, Raquel, Ortego-Centeno, Norberto, Guijarro Rojas, Mercedes, García-Villanueva, María Jesús, Ramentol-Sintas, Marc, Corbera-Bellalta, Marc, Pérez-Conesa, Mercedes, Sáez-Comet, Luis, Alegre-Sancho, Juan J, Sánchez-Martín, Julio, Miranda-Filloy, José A, Tío, Laura, Monfort, Jordi, Narváez, Javier, Martínez-Zapico, Aleida, Caminal-Montero, Luis, Díaz-López, J Bernardino, Morado, Inmaculada C, Martínez, Lina, López-Longo, Francisco J, de Miguel, Eugenio, Vicente, Esther F, Román, José A, Grau, Elena, Raya, Enrique, Gómez-Vaquero, Carmen, Sopeña, Bernardo, Marí-Alfonso, Begoña, Escalante, Begoña, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, Ordóñez-Cañizares, M Carmen, Fernández-Nebro, Antonio, Vuelta, Ana Belén Madroñero, Hidalgo-Conde, Ana, Unzurrunzaga, Ainhoa, Martínez-Berriochoa, Agustín, Sawalha, Amr H, Martín, Javier, González-Gay, Miguel A, Salvarani, Carlo, Boiardi, Luigi, Merkel, Peter A, Direskeneli, Haner, Carmona, F David, Coit, Patrick, Saruhan-Direskeneli, Güher, Hernández-Rodríguez, José, Cid, María C, Solans, Roser, and Vaglio, Augusto

Subjects
03 medical and health sciences, 0302 clinical medicine, Multidisciplinary, Geography, Component (UML), 030221 ophthalmology & optometry, Library science, Large vessel, skin and connective tissue diseases, Article, 030217 neurology & neurosurgery
Abstract

Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.

Published
2017
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29. Which joints and why do rheumatologists scan in rheumatoid arthritis by ultrasonography? A real life experience

Author

Aydin, Sibel Zehra, Pay, Salih, Inanc, Nevsun, Kamali, Sevil, Karadag, Omer, Emery, Paul, D'Agostino, Maria Antonietta, D'Agostino, Maria-Antonietta (ORCID:0000-0002-5347-0060), Aydin, Sibel Zehra, Pay, Salih, Inanc, Nevsun, Kamali, Sevil, Karadag, Omer, Emery, Paul, D'Agostino, Maria Antonietta, and D'Agostino, Maria-Antonietta (ORCID:0000-0002-5347-0060)

Abstract

Objectives: Ultrasonography (US) has been demonstrated to improve assessment of synovitis and disease activity in rheumatoid arthritis (RA). However, the utility and feasibility of US in RA in clinical practice in real life is not known. We aimed to investigate: i) the indications for performing US in RA in daily practice; and ii) whether the number of scanned joints varies according to the purpose. Methods: Consecutive patients who had a US scan either for diagnosis or follow-up for RA from 5 centres were recruited. The sonographers were asked to mark the joints that had a US scan and grade their findings. Descriptive analysis was applied to find out the sites and the number of joints scanned and compared according to the indications of US. Results: Two hundred consecutive patients were recruited. The most common indication was assessing disease activity (48.5%) followed by diagnosis (45.5 %). Wrists (66%) and MCPs (63.5) were the most frequently scanned joints followed by knees (26%), PIPs (20%). The number of joints scanned by US was significantly higher when performed for diagnostic purposes as compared to assessing disease activity and guidance for injections (p=0.001). Conclusions: The current data highlight differences between the numbers of joints for which that the clinician feels necessary to perform US in real life. This observation may be a guide when providing recommendations regarding which joints need to be scanned according to the indication.

Published
2017

31. Anorexia nervosa and Raynaud's phenomenon: a case report

Author

Yucel, Basak, Uzum, Ayse Kubat, Ozbey, Nese, Kamali, Sevil, and Yager, Joel

Subjects
Anorexia nervosa -- Care and treatment, Anorexia nervosa -- Patient outcomes, Raynaud's disease -- Care and treatment, Raynaud's disease -- Patient outcomes, Young women -- Care and treatment, Young women -- Health aspects, Food/cooking/nutrition, Psychology and mental health
Abstract

The medication, treatment and outcomes in a young female patient who after suffering from anorexia nervosa (AN) and later on developed Raynaud's phenomenon is presented. A combination of nutritional rehabilitation, group and individual therapy and counseling was used to enhance the patient's weight, attitudes and eating disorder-related behavior.

Published
2007

32. Developing a Core Set of Outcome Measures for Behçet Disease: Report from OMERACT 2016

Author

Hatemi, Gulen, primary, Meara, Alexa, additional, Ozguler, Yesim, additional, Direskeneli, Haner, additional, Mahr, Alfred, additional, Easley, Ebony, additional, Gurcan, Mert, additional, Davis, Trocon, additional, Gul, Ahmet, additional, Yazici, Yusuf, additional, Zottenberg, Katelyn, additional, Esatoglu, Sinem Nihal, additional, Erer, Burak, additional, Kamali, Sevil, additional, Yazici, Hasan, additional, Cronholm, Peter F., additional, and Merkel, Peter A., additional

Published
2017
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33. Genome-wide association study identifies susceptibility loci in IL6, RPS9/LILRB3, and an intergenic locus on chromosome 21q22 in Takayasu’s arteritis

Author

Renauer, Paul, Saruhan-Direskeneli, Guher, Coit, Patrick, Adler, Adam, Aksu, Kenan, Keser, Gokhan, Alibaz-Oner, Fatma, Aydin, Sibel Z., Kamali, Sevil, Inanc, Murat, Carette, Simon, Cuthbertson, David, Hoffman, Gary S., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Langford, Carol A., Maksimowicz-McKinnon, Kathleen, McAlear, Carol A., Ozbalkan, Zeynep, Ates, Askin, Karaaslan, Yasar, Duzgun, Nursen, Monach, Paul A., Ozer, Huseyin TE, Erken, Eren, Ozturk, Mehmet A., Yazici, Ayten, Cefle, Ayse, Onat, A. Mesut, Kisacik, Bunyamin, Pagnoux, Christian, Kasifoglu, Timucin, Seyahi, Emire, Fresko, Izzet, Seo, Philip, Sreih, Antoine, Warrington, Kenneth J., Ytterberg, Steven R., Cobankara, Veli, Cunninghame-Graham, Deborah S., Vyse, Timothy J., Pamuk, Omer N., Tunc, Ercan, Dalkilic, Ediz, Bicakcigil, Muge, Yentur, Sibel P., Wren, Jonathan D., Merkel, Peter A., Direskeneli, Haner, and Sawalha, Amr H.

Subjects
Ribosomal Proteins, Turkey, Chromosomes, Human, Pair 21, Interleukin-6, Ribosomal Protein S9, Takayasu Arteritis, Article, White People, Cohort Studies, Antigens, CD, Case-Control Studies, North America, Odds Ratio, Humans, Genetic Predisposition to Disease, Receptors, Immunologic, Genome-Wide Association Study
Abstract

Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis.Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis.We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P1 × 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B.Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis.

Published
2015

36. Assessment of Patients with Takayasu Arteritis in Routine Practice with Indian Takayasu Clinical Activity Score

Author

Alibaz-Oner, Fatma, primary, Aydin, Sibel Z., additional, Akar, Servet, additional, Aksu, Kenan, additional, Kamali, Sevil, additional, Yucel, Eftal, additional, Karadag, Omer, additional, Ozer, Huseyin, additional, Kiraz, Sedat, additional, Onen, Fatos, additional, Inanc, Murat, additional, Keser, Gokhan, additional, Akkoc, Nurullah, additional, and Direskeneli, Haner, additional

Published
2015
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37. Update on Outcome Measure Development for Large Vessel Vasculitis: Report from OMERACT 12

Author

Aydin, Sibel Zehra, primary, Direskeneli, Haner, additional, Sreih, Antoine, additional, Alibaz-Oner, Fatma, additional, Gul, Ahmet, additional, Kamali, Sevil, additional, Hatemi, Gulen, additional, Kermani, Tanaz, additional, Mackie, Sarah L., additional, Mahr, Alfred, additional, Meara, Alexa, additional, Milman, Nataliya, additional, Nugent, Heidi, additional, Robson, Joanna, additional, Tomasson, Gunnar, additional, and Merkel, Peter A., additional

Published
2015
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38. Identification of Susceptibility Loci inIL6,RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study

Author

Renauer, Paul A., primary, Saruhan-Direskeneli, Guher, additional, Coit, Patrick, additional, Adler, Adam, additional, Aksu, Kenan, additional, Keser, Gokhan, additional, Alibaz-Oner, Fatma, additional, Aydin, Sibel Z., additional, Kamali, Sevil, additional, Inanc, Murat, additional, Carette, Simon, additional, Cuthbertson, David, additional, Hoffman, Gary S., additional, Akar, Servet, additional, Onen, Fatos, additional, Akkoc, Nurullah, additional, Khalidi, Nader A., additional, Koening, Curry, additional, Karadag, Omer, additional, Kiraz, Sedat, additional, Langford, Carol A., additional, Maksimowicz-McKinnon, Kathleen, additional, McAlear, Carol A., additional, Ozbalkan, Zeynep, additional, Ates, Askin, additional, Karaaslan, Yasar, additional, Duzgun, Nursen, additional, Monach, Paul A., additional, Ozer, Huseyin T. E., additional, Erken, Eren, additional, Ozturk, Mehmet A., additional, Yazici, Ayten, additional, Cefle, Ayse, additional, Onat, Ahmet Mesut, additional, Kisacik, Bunyamin, additional, Pagnoux, Christian, additional, Kasifoglu, Timucin, additional, Seyahi, Emire, additional, Fresko, Izzet, additional, Seo, Philip, additional, Sreih, Antoine G., additional, Warrington, Kenneth J., additional, Ytterberg, Steven R., additional, Cobankara, Veli, additional, Cunninghame-Graham, Deborah S., additional, Vyse, Timothy J., additional, Pamuk, Omer N., additional, Tunc, S. Ercan, additional, Dalkilic, Ediz, additional, Bicakcigil, Muge, additional, Yentur, Sibel P., additional, Wren, Jonathan D., additional, Merkel, Peter A., additional, Direskeneli, Haner, additional, and Sawalha, Amr H., additional

Published
2015
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43. Pauci-immune necrotizing crescentic glomerulonephritis with crescentic and full moon extracapillary proliferation: Clinico-pathologic correlation and follow-up study

Author

Unlu, Mehtat, primary, Kiremitci, Saba, additional, Ensari, Arzu, additional, Ozluk, Yasemin, additional, Kilicaslan, Isin, additional, Ozdemir, Binnaz Handan, additional, Ates, Deniz, additional, Ertoy Baydar, Dilek, additional, Gonul, Ipek Isik, additional, Memis, Leyla, additional, Sarsik, Banu, additional, Sen, Sait, additional, Akkaya, Bahar, additional, Orhan, Diclehan, additional, Gonlusen, Gulfiliz, additional, Ellidokuz, Hulya, additional, Ada, Sibel, additional, Cavdar, Caner, additional, Akagun, Tulin, additional, Kamali, Sevil, additional, Aksu, Kenan, additional, Yazisiz, Veli, additional, Paydas, Saime, additional, Soylu, Alper, additional, and Sarioglu, Sulen, additional

Published
2013
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44. P40 HLA-B*52 is associated with early onset and more extensive vascular involvement in Takayasu's arteritis

Author

Sahin, Ziver, primary, Biçakçigil, Müge, additional, Aksu, Kenan, additional, Kamali, Sevil, additional, Akar, Servet, additional, önen, Fatos, additional, Karadag, Omer, additional, Ozbalkan, Zeynep, additional, Ates, Askin, additional, Ozer, Hüseyin TE, additional, Yilmaz, Vuslat, additional, Seyahi, Emire, additional, Ozturk, Mehmet A, additional, Çefle, Ayse, additional, Cobankara, Veli, additional, Onat, Mesut, additional, Tunc, Ercan, additional, Düzgün, Nursen, additional, Aydin, Sibel Z, additional, Yilmaz, Neslihan, additional, Fresko, Izzet, additional, Karaaslan, Yasar, additional, Kiraz, Sedat, additional, Akkoç, Nurullah, additional, Inanc, Murat, additional, Keser, Gökhan, additional, Uyar, F Aytül, additional, Direskeneli, Haner, additional, and Saruhan-Direskeneli, Güher, additional

Published
2011
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