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2. 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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3. 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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7. Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients

Author

National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), 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, Sawalha, Amr H., National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), 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.

Abstract

[Objectives] Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease., [Methods] A total of 1762 male and 1216 female patients with Behçet's disease from six diverse populations were studied, with the majority of patients of Turkish origin. Genotyping was performed using an Infinium ImmunoArray-24 BeadChip, or extracted from available genotyping data. Following imputation and extensive quality control measures, genome-wide association analysis was performed comparing male to female patients in the Turkish cohort, followed by a meta-analysis of significant results in all six populations. In addition, a weighted genetic risk score for Behçet's disease was calculated and compared between male and female patients., [Results] Genetic association analysis comparing male to female patients with Behçet's disease from Turkey revealed an association with male sex in HLA-B/MICA within the HLA region with a GWAS level of significance (rs2848712, OR = 1.46, P = 1.22 × 10−8). Meta-analysis of the effect in rs2848712 across six populations confirmed these results. Genetic risk score for Behçet's disease was significantly higher in male compared to female patients from Turkey. Higher genetic risk for Behçet's disease was observed in male patients in HLA-B/MICA (rs116799036, OR = 1.45, P = 1.95 × 10−8), HLA-C (rs12525170, OR = 1.46, P = 5.66 × 10−7), and KLRC4 (rs2617170, OR = 1.20, P = 0.019). In contrast, IFNGR1 (rs4896243, OR = 0.86, P = 0.011) was shown to confer higher genetic risk in female patients., [Conclusions] Male patients with Behçet's disease are characterized by higher genetic risk compared to female patients. This genetic difference, primarily derived from our Turkish cohort, is largely explained by risk within the HLA region. These data suggest that genetic factors might contribute to differences in disease presentation between men and women with Behçet's disease.

Published
2022

11. Immune alterations in subacute sclerosing panencephalitis reflect an incompetent response to eliminate the measles virus

Author

Gürses, Rabia Candan (ORCID 0000-0002-3752-1825 & YÖK ID 110149), Yentür, Sibel P.; Demirbilek, Veysi; Barış, Safa; Kuru, Ümit; Ayta, Semih; Yapıcı, Zuhal; Adın-Çınar, Suzan; Uysal, Serap; Çelik Yılmaz, Gülden; Önal, Emel; Çokar, Özlem; Saruhan-Direskeneli, Güher, School of Medicine, Gürses, Rabia Candan (ORCID 0000-0002-3752-1825 & YÖK ID 110149), Yentür, Sibel P.; Demirbilek, Veysi; Barış, Safa; Kuru, Ümit; Ayta, Semih; Yapıcı, Zuhal; Adın-Çınar, Suzan; Uysal, Serap; Çelik Yılmaz, Gülden; Önal, Emel; Çokar, Özlem; Saruhan-Direskeneli, Güher, and School of Medicine

Abstract

Istanbul University Research Fund

Published
2021

12. Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease

Author

Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Kese, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Casali, Bruno, Bünyamin, Kısacık, Kötter, Ina, Henes, Jörg, Muhammet, Çınar, Schaefer, Arne, Nohutcu, Rahime M., Zhernakova, Alexandra, Wijmenga, Cisca, Takeuchi, Fujio, Harihara, Shinji, Kaburak, Toshikatsu, Messedi, Meriam, Song, Y. W., Kaşifoğlu, Timuçin, Carmona, F.D., Guthridge, Joel M., James, Judith A., Martín, J., González-Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, Sawalha, Amr H., Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Kese, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Casali, Bruno, Bünyamin, Kısacık, Kötter, Ina, Henes, Jörg, Muhammet, Çınar, Schaefer, Arne, Nohutcu, Rahime M., Zhernakova, Alexandra, Wijmenga, Cisca, Takeuchi, Fujio, Harihara, Shinji, Kaburak, Toshikatsu, Messedi, Meriam, Song, Y. W., Kaşifoğlu, Timuçin, Carmona, F.D., Guthridge, Joel M., James, Judith A., Martín, J., González-Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, and Sawalha, Amr H.

Abstract

Objective. Behçet’s disease is a complex systemic inflammatory vasculitis of incompletely understood etiology. This study was undertaken to investigate genetic associations with Behçet’s disease in a diverse multiethnic population.Methods. A total of 9,444 patients and controls from 7 different populations were included in this study. Genotyping was performed using an Infinium ImmunoArray- 24 v.1.0 or v.2.0 BeadChip. Analysis of expression data from stimulated monocytes, and epigenetic and chromatin interaction analyses were performed.Results. We identified 2 novel genetic susceptibility loci for Behçet’s disease, including a risk locus in IFNGR1(rs4896243) (odds ratio [OR] 1.25; P = 2.42 × 10−9) and within the intergenic region LNCAROD/DKK1 (rs1660760) (OR 0.78; P = 2.75 × 10−8). The risk variants in IFNGR1 significantly increased IFNGR1 messenger RNA expression in lipopolysaccharide- stimulated monocytes. In addition, our results replicated the association (P < 5 × 10−8) of 6 previously identified susceptibility loci in Behçet’s disease: IL10, IL23R, IL12A- AS1, CCR3, ADO, and LACC1, reinforcing the notion that these loci are strong genetic factors in Behçet’s disease shared across ancestries. We also identified >30 genetic susceptibility loci with a suggestive level of association (P < 5 × 10−5), which will require replication. Finally, functional annotation of genetic susceptibility loci in Behçet’s disease revealed their possible regulatory roles and suggested potential causal genes and molecular mechanisms that could be further investigated.Conclusion. We performed the largest genetic association study in Behçet’s disease to date. Our findings reveal novel putative functional variants associated with the disease and replicate and extend the genetic associations in other loci across multiple ancestries.

Published
2021

13. Genetic Association of a Gain‐of‐Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet’s Disease

Author

Ortiz Fernández, Lourdes, primary, Coit, Patrick, additional, Yilmaz, Vuslat, additional, Yentür, Sibel P., additional, Alibaz‐Oner, Fatma, additional, Aksu, Kenan, additional, Erken, Eren, additional, Düzgün, Nursen, additional, Keser, Gokhan, additional, Cefle, Ayse, additional, Yazici, Ayten, additional, Ergen, Andac, additional, Alpsoy, Erkan, additional, Salvarani, Carlo, additional, Casali, Bruno, additional, Kısacık, Bünyamin, additional, Kötter, Ina, additional, Henes, Jörg, additional, Çınar, Muhammet, additional, Schaefer, Arne, additional, Nohutcu, Rahime M., additional, Zhernakova, Alexandra, additional, Wijmenga, Cisca, additional, Takeuchi, Fujio, additional, Harihara, Shinji, additional, Kaburaki, Toshikatsu, additional, Messedi, Meriam, additional, Song, Yeong‐Wook, additional, Kaşifoğlu, Timuçin, additional, Carmona, F. David, additional, Guthridge, Joel M., additional, James, Judith A., additional, Martin, Javier, additional, González Escribano, María Francisca, additional, Saruhan‐Direskeneli, Güher, additional, Direskeneli, Haner, additional, and Sawalha, Amr H., additional

Published
2021
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15. Immune alterations in subacute sclerosing panencephalitis reflect an incompetent response to eliminate the measles virus

Author

Yentür, Sibel P., primary, Demirbilek, Veysi, additional, Gurses, Candan, additional, Baris, Safa, additional, Kuru, Umit, additional, Ayta, Semih, additional, Yapici, Zuhal, additional, Adin-Cinar, Suzan, additional, Uysal, Serap, additional, Celik Yilmaz, Gulden, additional, Onal, Emel, additional, Cokar, Ozlem, additional, and Saruhan-Direskeneli, Güher, additional

Published
2021
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16. CD4+ T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS

Author

Çebi, Merve, primary, Durmus, Hacer, additional, Aysal, Fikret, additional, Özkan, Berker, additional, Gül, Gizem Engin, additional, Çakar, Arman, additional, Hocaoglu, Mehmet, additional, Mercan, Metin, additional, Yentür, Sibel P., additional, Tütüncü, Melih, additional, Yayla, Vildan, additional, Akan, Onur, additional, Dogan, Öner, additional, Parman, Yeşim, additional, and Saruhan-Direskeneli, Güher, additional

Published
2020
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22. 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

23. 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

24. 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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25. CD4+ T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS.

Author

Çebi, Merve, Durmus, Hacer, Aysal, Fikret, Özkan, Berker, Gül, Gizem Engin, Çakar, Arman, Hocaoglu, Mehmet, Mercan, Metin, Yentür, Sibel P., Tütüncü, Melih, Yayla, Vildan, Akan, Onur, Dogan, Öner, Parman, Yeşim, and Saruhan-Direskeneli, Güher

Subjects
MYASTHENIA gravis, T cells, T helper cells, CHEMOKINE receptors, BLOOD cells, TH2 cells
Abstract

Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cell subsets are required for long-term antibody responses, and cytokines secreted mainly from CD4+ T cells regulate B cell antibody production. The aim of this study was to assess the differences in the cytokine expressions of CD4+ T cells in MG patients with AChR antibodies (AChR-MG) and the effect of immunosuppressive (IS) therapy on cytokine activity and to test these findings also in MG patients without detectable antibodies (SN-MG). Clinically diagnosed AChR-MG and SN-MG patients were included. The AChR-MG patients were grouped as IS-positive and -negative and compared with age- and sex-matched healthy controls. Peripheral blood mononuclear cells were used for ex vivo intracellular cytokine production, and subsets of CD4+ T cells and circulating follicular helper T (cTfh) cells were detected phenotypically by the expression of the chemokine and the costimulatory receptors. Thymocytes obtained from patients who had thymectomy were also analyzed. IL-21, IL-4, IL-10, and IL-17A productions in CD4+ T cells were increased in AChR-MG compared to those in healthy controls. IS treatment enhanced IL-10 and reduced IFN-γ production in AChR-MG patients compared to those in IS-negative patients. Increased IL-21 and IL-4 productions were also demonstrated in SN-MG patients. Among CD4+ T cells, Th17 cells were increased in both disease subgroups. Treatment induced higher proportions of Th2 cells in AChR-MG patients. Both CXCR5+ and CXCR5− CD4+ T cells expressed higher programmed cell death protein 1 (PD-1) and inducible costimulatory (ICOS) in AChR-MG and SN-MG groups, mostly irrespective of the treatment. Based on chemokine receptors on CXCR5+PD-1+ in CD4+ T (cTfh) cells, in AChR-MG patients without treatment, the proportions of Tfh17 cells were higher than those in the treated group, whereas the Tfh1 cells were decreased compared with those in the controls. The relevance of CXCR5 and PD-1 in the pathogenesis of AChR-MG was also suggested by the increased presence of these molecules on mature CD4 single-positive thymocytes from the thymic samples. The study provides further evidence for the importance of IL-21, IL-17A, IL-4, and IL-10 in AChR-MG. Disease-related CD4+T cells are identified mainly as PD-1+ or ICOS+ with or without CXCR5, resembling cTfh cells in the circulation or probably in the thymus. AChR-MG and SN-MG seem to have some similar characteristics. IS treatment has distinctive effects on cytokine expression. [ABSTRACT FROM AUTHOR]

Published
2020
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26. Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis

Author

Saruhan-Direskeneli, Güher, Hughes, Travis, Aksu, Kenan, Keser, Gokhan, Coit, Patrick, Aydin, Sibel Z., Alibaz-Oner, Fatma, Kamalı, Sevil, Inanc, Murat, Carette, Simon, Hoffman, Gary S., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Langford, Carol A., McAlear, Carol A., Ozbalkan, Zeynep, Ates, Askin, Karaaslan, Yasar, Maksimowicz-McKinnon, Kathleen, Monach, Paul A., Ozer, Hüseyin T., Seyahi, Emire, Fresko, Izzet, Cefle, Ayse, Seo, Philip, Warrington, Kenneth J., Ozturk, Mehmet A., Ytterberg, Steven R., Cobankara, Veli, Onat, A. Mesut, Guthridge, Joel M., James, Judith A., Tunc, Ercan, Duzgun, Nurşen, Bıcakcıgil, Muge, Yentür, Sibel P., Merkel, Peter A., Direskeneli, Haner, and Sawalha, Amr H.

Published
2013
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28. Interleukin (IL)-12, IL-2, interferon-γ gene polymorphisms in subacute sclerosing panencephalitis patients

Author

Yılmaz, Vuslat, primary, Demirbilek, Veysi, additional, Gürses, Candan, additional, Yentür, Sibel P, additional, Uysal, Serap, additional, Yapıcı, Zuhal, additional, Yılmaz, Gülden, additional, Muncey, Aaron, additional, Çokar, Özlem, additional, Önal, Emel, additional, Gökyiğit, Ayşen, additional, and Saruhan-Direskeneli, Güher, additional

Published
2007
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29. CD4 + T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS.

Author

Çebi M, Durmus H, Aysal F, Özkan B, Gül GE, Çakar A, Hocaoglu M, Mercan M, Yentür SP, Tütüncü M, Yayla V, Akan O, Dogan Ö, Parman Y, and Saruhan-Direskeneli G

Subjects
Adolescent, Adult, Aged, Autoantibodies immunology, Female, Humans, Immunosuppression Therapy methods, Immunosuppressive Agents therapeutic use, Male, Middle Aged, Myasthenia Gravis therapy, Receptors, Cholinergic immunology, Signal Transduction drug effects, Young Adult, Interleukin-21, CD4-Positive T-Lymphocytes immunology, Inducible T-Cell Co-Stimulator Protein metabolism, Interleukin-17 biosynthesis, Interleukin-4 biosynthesis, Interleukins biosynthesis, Myasthenia Gravis immunology, Programmed Cell Death 1 Receptor metabolism
Abstract

Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cell subsets are required for long-term antibody responses, and cytokines secreted mainly from CD4 + T cells regulate B cell antibody production. The aim of this study was to assess the differences in the cytokine expressions of CD4 + T cells in MG patients with AChR antibodies (AChR-MG) and the effect of immunosuppressive (IS) therapy on cytokine activity and to test these findings also in MG patients without detectable antibodies (SN-MG). Clinically diagnosed AChR-MG and SN-MG patients were included. The AChR-MG patients were grouped as IS-positive and -negative and compared with age- and sex-matched healthy controls. Peripheral blood mononuclear cells were used for ex vivo intracellular cytokine production, and subsets of CD4 + T cells and circulating follicular helper T (cTfh) cells were detected phenotypically by the expression of the chemokine and the costimulatory receptors. Thymocytes obtained from patients who had thymectomy were also analyzed. IL-21, IL-4, IL-10, and IL-17A productions in CD4 + T cells were increased in AChR-MG compared to those in healthy controls. IS treatment enhanced IL-10 and reduced IFN-γ production in AChR-MG patients compared to those in IS-negative patients. Increased IL-21 and IL-4 productions were also demonstrated in SN-MG patients. Among CD4 + T cells, Th17 cells were increased in both disease subgroups. Treatment induced higher proportions of Th2 cells in AChR-MG patients. Both CXCR5 + and CXCR5 - CD4 + T cells expressed higher programmed cell death protein 1 (PD-1) and inducible costimulatory (ICOS) in AChR-MG and SN-MG groups, mostly irrespective of the treatment. Based on chemokine receptors on CXCR5 + PD-1 + in CD4 + T (cTfh) cells, in AChR-MG patients without treatment, the proportions of Tfh17 cells were higher than those in the treated group, whereas the Tfh1 cells were decreased compared with those in the controls. The relevance of CXCR5 and PD-1 in the pathogenesis of AChR-MG was also suggested by the increased presence of these molecules on mature CD4 single-positive thymocytes from the thymic samples. The study provides further evidence for the importance of IL-21, IL-17A, IL-4, and IL-10 in AChR-MG. Disease-related CD4 + T cells are identified mainly as PD-1 + or ICOS + with or without CXCR5, resembling cTfh cells in the circulation or probably in the thymus. AChR-MG and SN-MG seem to have some similar characteristics. IS treatment has distinctive effects on cytokine expression., (Copyright © 2020 Çebi, Durmus, Aysal, Özkan, Gül, Çakar, Hocaoglu, Mercan, Yentür, Tütüncü, Yayla, Akan, Dogan, Parman and Saruhan-Direskeneli.)

Published
2020
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