Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Autor: Daniele Cusi, Etsuo Chihara, Leyla Al-Jasim, Ya Xing Wang, Tero Kivelä, Jinghong Sang, Adeyinka O. Ashaye, Bowen Zhao, Tan Do, Susanne Moebus, Ursula Schlötzer-Schrehardt, Shamira A. Perera, Augustine W O Cheong, Afsaneh Naderi Beni, Francisco A. Escudero-Domínguez, Yoshiaki Kiuchi, Tomomi Higashide, DS Klobassa, Friedrich E. Kruse, Nicole Weisschuh, Chunyan Qiao, Muhammad Imran Khan, Martin L. Hibberd, Arthur J. Sit, Jamie E Craig, Akitoshi Yoshida, Periasamy Sundaresan, Humaira Ayub, Kathryn P. Burdon, Jonathan G Crowston, Kazunori Miyata, Marisa Cruz-Aguilar, Markus M. Nöthen, Hasnaa Lamari, Michael A. Hauser, Louis R. Pasquale, Anneke I. den Hollander, Eija Vesti, Ursula Hoja, Raphael Q Soh, Burcu Kasım, Adeola O Onakoya, Rachel W. Kuchtey, Eugeny L. Akopov, Liang Xu, Juan Carlos Zenteno, Chaiwat Teekhasaenee, Saleh A. Al-Obeidan, Eleftherios Anastasopoulos, Anita S Y Chan, Nagahisa Yoshimura, John Kuchtey, Naris Kitnarong, Yaan Fun Chong, Boonsong Wanichwecharugruang, R.R. Fayzrakhmanov, Paul Mitchell, N Kalpana, Unnur Thorsteinsdottir, Kei Tashiro, Rajesh Kumar, Jin Wook Jeoung, Deepak P. Edward, Frederico Martinon-Torres, Bilge Batu, Anavaj Sakuntabhai, Robert N. Weinreb, Héctor González-Iglesias, Sasan Moghimi, Jia Nee Foo, Nkechi J Uche, Karen Curtin, Kenji Inoue, Lingam Vijaya, Makoto Aihara, Dilek Aktas, Norimoto Gotoh, Wasu Supakontanasan, Laura Dallorto, Takako Sugimoto, Jonathan L. Haines, Olusola Olawoye, Janey L. Wiggs, Sripriya Sarangapani, Craig J. Chaya, Theofanis Pappas, Fotis Topouzis, Eranga N. Vithana, Steffen Heegaard, Fridbert Jonasson, Kazuhiko Mori, Idakwo Ugbede, Hongyan Jia, Anthi Chatzikyriakidou, Robert P. Igo, Soon Cheol Cha, Yueming Chen, Su-Ling Ho, Zhenglin Yang, Jost B. Jonas, Francesca Pasutto, Ken Hayashi, Rahat Husain, Georg Mossböck, S Fabian Lerner, R. Rand Allingham, Priti Sahay, Fumihiko Matsuda, Yanin Suwan, Teresa Rolle, Robert Ritch, Peter Kraft, Trevor R. Carmichael, Kar Seng Sim, Raheel Qamar, Gordana Sunaric Megevand, Tomasz Zarnowski, Shazia Micheal, Scott Thomas, Paolo Frezzotti, Vera Vysochinskaya, Linda M. Zangwill, Alina Popa Cherecheanu, Tin Aung, Jessica N. Cooke Bailey, Kyu Hyung Park, Edward Dervan, Suhanya Okeke, Pablo Fornero, Sidi M Ezzouhairi, Pascal Reynier, Gudmar Thorleifsson, Michael V. Dubina, Kazuhisa Sugiyama, Sylvain Roy, Per Kappelgaard, Mineo Ozaki, Vijayan Saravanan, Carlo Lavia, Wenda L. Greer, Takanori Mizoguchi, Alireza Lashay, A. Binder, Daniel Berner, Su Qin Peh, Balram Chowbay, Nino Kobakhidze, Ifeoma N. Asimadu, Delia Sivori, Gopalakrishnan Prakadeeswari, Alexandros Lambropoulos, Michael Coote, Sergei Y. Astakhov, Shahin Yazdani, Dan Milea, Montserrat García, Lydia Álvarez, Kenji Yamashiro, Soumya Raychaudhuri, Pratap Challa, Aparna Rao, Jae H. Kang, Khai Koon Heng, Richard K. Lee, Tien Yin Wong, Alex W. Hewitt, Yoko Ikeda, Kessara Pathanapitoon, Panayiota Founti, Daniella Bach-Holm, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michèle Ramsay, Nkiru Kizor-Akaraiwe, Yosai Mori, Antonio Maria Fea, Chandrashekaran Shivkumar, Xiao Yu Ng, Jie Jin Wang, Erika Salvi, Giang T T Nguyn, Steffen Uebe, Tamara Zompa, Anne L. Coleman, Werner Zenz, Min Sagong, Luis Fernández-Vega Cueto, Farah Akhtar, Susan Williams, Sarah C. Nelson, Bradford J. Shingleton, Ryuichi Ideta, Leon W. Herndon, Zheng Li, Murat Irkec, M. Roy Wilson, Ewa Kosior-Jarecka, Christian Y. Mardin, Mozhgan Rezaei Kanavi, Tsutomu Ohashi, Abderrahman Rafei, Rengaraj Venkatesh, Stefan Herms, George Chichua, Mohammad Pakravan, Robyn M. Rautenbach, Shi Qi Mok, Trình V Nguyn, Patricio G. Schlottmann, Nassim Khatibi, Daniel Gaston, Masaru Inatani, Morio Ueno, Mukharram M. Bikbov, Eoin Silke, Homa Naderifar, Linda Hansapinyo, Paolo Manunta, Z. Xie, Urszula Lukasik, Eray Atalay, Lulin Huang, Xuyang Liu, Chie Sotozono, Shuang Ru Goh, John H. Fingert, Richard A. Mills, Khaled K. Abu-Amero, Xiao Yin Chen, Matthias Zenkel, Sergo Tabagari, Irma Järvelä, Xueyi Chen, Stéphanie Leruez, Yury S. Astakhov, Sonia Davila, Yildirim Nilgün, Ronnie George, Shin-ichi Manabe, Miguel Coca-Prados, Masahiro Miyake, Ignacio Lischinsky, Rogelio González-Sarmiento, Arkasubhra Ghosh, A. Emelyanov, Çilingir Oguz, Masakazu Nakano, Rohit Shetty, Karen Bedard, Toshiya Sakurai, Yutao Liu, Barbara M Wirostko, Hui Zhang, Ulrich-Christoph Welge-Luessen, Toshiaki Kubota, Vania Castro, Hip X Nguyn, Liyun Jia, Ari Ziskind, Hideki Chuman, Andrew C. Orr, Satoko Nakano, Daniela Paoli, Masahide Yanagi, Aravind Haripriya, Kari Stefansson, Pedro Pablo Rodríguez-Calvo, Hui Meng Soo, Chiea Chuen Khor, Gyulli M. Kazakbaeva, Osvaldo Cuello, Mei Chin Lee, Ki Ho Park, Natalia Porporato, Lourdes de Juan Marcos, Ching-Yu Cheng, Shigeyasu Kazama, Shigeru Kinoshita, Axel M. Hillmer, Alan S. Crandall, Victor H. K. Yong, Ohoud Owaidhah, Rodolfo Perez Grossmann, Jeeyun Ahn, André Reis, Nevbahar Tamçelik, Satoshi Ishiko, Antonio Salas, Ningli Wang

Publikováno v: Nature Genetics, 49, 7, pp. 993-1004
Nature genetics
49 (2017): 993–+. doi:10.1038/ng.3875
info:cnr-pdr/source/autori:Aung, Tin; Ozaki, Mineo; Lee, Mei Chin; Schlotzer-Schrehardt, Ursula; Thorleifsson, Gudmar; Mizoguchi, Takanori; Igo, Robert P., Jr.; Haripriya, Aravind; Williams, Susan E.; Astakhov, Yury S.; Orr, Andrew C.; Burdon, Kathryn P.; Nakano, Satoko; Mori, Kazuhiko; Abu-Amero, Khaled; Hauser, Michael; Li, Zheng; Prakadeeswari, Gopalakrishnan; Bailey, Jessica N. Cooke; Cherecheanu, Alina Popa; Kang, Jae H.; Nelson, Sarah; Hayashi, Ken; Manabe, Shin-ichi; Kazama, Shigeyasu; Zarnowski, Tomasz; Inoue, Kenji; Irkec, Murat; Coca-Prados, Miguel; Sugiyama, Kazuhisa; Jarvela, Irma; Schlottmann, Patricio; Lerner, S. Fabian; Lamari, Hasnaa; Nilgun, Yildirim; Bikbov, Mukharram; Park, Ki Ho; Cha, Soon Cheol; Yamashiro, Kenji; Zenteno, Juan C.; Jonas, Jost B.; Kumar, Rajesh S.; Perera, Shamira A.; Chan, Anita S. Y.; Kobakhidze, Nino; George, Ronnie; Vijaya, Lingam; Do, Tan; Edward, Deepak P.; de Juan Marcos, Lourdes; Pakravan, Mohammad; Moghimi, Sasan; Ideta, Ryuichi; Bach-Holm, Daniella; Kappelgaard, Per; Wirostko, Barbara; Thomas, Samuel; Gaston, Daniel; Bedard, Karen; Greer, Wenda L.; Yang, Zhenglin; Chen, Xueyi; Huang, Lulin; Sang, Jinghong; Jia, Hongyan; Jia, Liyun; Qiao, Chunyan; Zhang, Hui; Liu, Xuyang; Zhao, Bowen; Wang, Ya-Xing; Xu, Liang; Leruez, Stephanie; Reynier, Pascal; Chichua, George; Tabagari, Sergo; Uebe, Steffen; Zenkel, Matthias; Berner, Daniel; Mossboeck, Georg; Weisschuh, Nicole; Hoja, Ursula; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Founti, Panayiota; Chatzikyriakidou, Anthi; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Ghosh, Arkasubhra; Shetty, Rohit; Porporato, Natalia; Saravanan, Vijayan; Venkatesh, Rengaraj; Shivkumar, Chandrashekaran; Kalpana, Narendran; Sarangapani, Sripriya; Kanavi, Mozhgan R.; Beni, Afsaneh Naderi; Yazdani, Shahin; Lashay, Alireza; Naderifar, Homa; Khatibi, Nassim; Fea, Antonio; Lavia, Carlo; Dallorto, Laura; Rolle, Teresa; Frezzotti, Paolo; Paoli, Daniela; Salvi, Erika; Manunta, Paolo; Mori, Yosai; Miyata, Kazunori; Higashide, Tomomi; Chihara, Etsuo; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Miyake, Masahiro; Gotoh, Norimoto; Matsuda, Fumihiko; Yoshimura, Nagahisa; Ikeda, Yoko; Ueno, Morio; Sotozono, Chie; Jeoung, Jin Wook; Sagong, Min; Park, Kyu Hyung; Ahn, Jeeyun; Cruz-Aguilar, Marisa; Ezzouhairi, Sidi M.; Rafei, Abderrahman; Chong, Yaan Fun; Ng, Xiao Yu; Goh, Shuang Ru; Chen, Yueming; Yong, Victor H. K.; Khan, Muhammad Imran; Olawoye, Olusola O.; Ashaye, Adeyinka O.; Ugbede, Idakwo; Onakoya, Adeola; Kizor-Akaraiwe, Nkiru; Teekhasaenee, Chaiwat; Suwan, Yanin; Supakontanasan, Wasu; Okeke, Suhanya; Uche, Nkechi J.; Asimadu, Ifeoma; Ayub, Humaira; Akhtar, Farah; Kosior-Jarecka, Ewa; Lukasik, Urszula; Lischinsky, Ignacio; Castro, Vania; Perez Grossmann, Rodolfo; Megevand, Gordana Sunaric; Roy, Sylvain; Dervan, Edward; Silke, Eoin; Rao, Aparna; Sahay, Priti; Fornero, Pablo; Cuello, Osvaldo; Sivori, Delia; Zompa, Tamara; Mills, Richard A.; Souzeau, Emmanuelle; Mitchell, Paul; Wang, Jie Jin; Hewitt, Alex W.; Coote, Michael; Crowston, Jonathan G.; Astakhov, Sergei Y.; Akopov, Eugeny L.; Emelyanov, Anton; Vysochinskaya, Vera; Kazakbaeva, Gyulli; Fayzrakhmanov, Rinat; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Aljasim, Leyla Ali; Chowbay, Balram; Foo, Jia Nee; Soh, Raphael Q.; Sim, Kar Seng; Xie, Zhicheng; Cheong, Augustine W. O.; Mok, Shi Qi; Soo, Hui Meng; Chen, Xiao Yin; Peh, Su Qin; Heng, Khai Koon; Husain, Rahat; Ho, Su-Ling; Hillmer, Axel M.; Cheng, Ching-Yu; Escudero-Dominguez, Francisco A.; Gonzalez-Sarmiento, Rogelio; Martinon-Torres, Frederico; Salas, Antonio; Pathanapitoon, Kessara; Hansapinyo, Linda; Wanichwecharugruang, Boonsong; Kitnarong, Naris; Sakuntabhai, Anavaj; Nguyn, Hip X.; Nguyn, Giang T. T.; Nguyn, TrNh V.; Zenz, Werner; Binder, Alexander; Klobassa, Daniela S.; Hibberd, Martin L.; Davila, Sonia; Herms, Stefan; Nothen, Markus M.; Moebus, Susanne; Rautenbach, Robyn M.; Ziskind, Ari; Carmichael, Trevor R.; Ramsay, Michele; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Rodriguez-Calvo, Pedro P.; Fernandez-Vega Cueto, Luis; Oguz, Cilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Aktas, Dilek; Kasim, Burcu; Wilson, M. Roy; Coleman, Anne L.; Liu, Yutao; Challa, Pratap; Herndon, Leon; Kuchtey, Rachel W.; Kuchtey, John; Curtin, Karen; Chaya, Craig J.; Crandall, Alan; Zangwill, Linda M.; Wong, Tien Yin; Nakano, Masakazu; Kinoshita, Shigeru; den Hollander, Anneke I.; Vesti, Eija; Fingert, John H.; Lee, Richard K.; Sit, Arthur J.; Shingleton, Bradford J.; Wang, Ningli; Cusi, Daniele; Qamar, Raheel; Kraft, Peter; Pericak-Vance, Margaret A.; Raychaudhuri, Soumya; Heegaard, Steffen; Kivela, Tero; Reis, Andre; Kruse, Friedrich E.; Weinreb, Robert N.; Pasquale, Louis R.; Haines, Jonathan L.; Thorsteinsdottir, Unnur; Jonasson, Fridbert; Allingham, R. Rand; Milea, Dan; Ritch, Robert; Kubota, Toshiaki; Tashiro, Kei; Vithana, Eranga N.; Micheal, Shazia; Topouzis, Fotis; Craig, Jamie E.; Dubina, Michael; Sundaresan, Periasamy; Stefansson, Kari; Wiggs, Janey L.; Pasutto, Francesca; Khor, Chiea Chuen/titolo:Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci/doi:10.1038%2Fng.3875/rivista:Nature genetics (Print)/anno:2017/pagina_da:993/pagina_a:+/intervallo_pagine:993–+/volume:49
Nature Genetics
Nature Genetics, 2017, 49 (7), pp.993-1004. ⟨10.1038/ng.3875⟩
Nature Genetics, 49(7), 993-1004. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (7), pp.993-1004. ⟨10.1038/ng.3875⟩
Nature Genetics, 49, 993-1004

International audience; Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdaf7dcb456f5d668965e48ba5bef788
https://doi.org/10.1038/ng.3875

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

Autor: Mineo Ozaki, Marcelo T. Nicolela, Theofanis Pappas, Fotis Topouzis, Andrés Fernández-Vega Cueto, Panayiota Founti, Eray Atalay, Nilgun Yildirim, Chie Sotozono, Christina Keskini, Yosai Mori, Luis Fernández-Vega Cueto, Andrew C. Orr, Murat Irkec, Yuanhan Li, Deepak P. Edward, Satoko Nakano, Yury S. Astakhov, Tsutomu Ohashi, Daniel Gaston, George Chichua, Evangelia S Panagiotou, Ursula Schlötzer-Schrehardt, Jae H. Kang, Sergo Tabagari, Federico Martinón-Torres, Akitoshi Yoshida, Lesya M. Shuba, Masaru Inatani, Ken Hayashi, Takako Sugimoto, Shamira A. Perera, Takanori Mizoguchi, Kar Seng Sim, Friedrich E. Kruse, Shin-ichi Manabe, Andreas Giessl, Joseph Saunders, Ewa Kosior-Jarecka, Christian Y. Mardin, Wai Leong Tam, Hui Meng Soo, Makoto Aihara, Yoshiaki Kiuchi, Tomomi Higashide, Wee Yang Meah, Rahat Husain, Tin Aung, Sergei Y. Astakhov, Zheng Li, Dimitrios G. Mikropoulos, André Reis, Eleftherios Anastasopoulos, Jessica N. Cooke Bailey, Anastasios G. P. Konstas, Toshiya Sakurai, Dilek Aktas, Montserrat García, Bilge Batu, Hideki Chuman, Shigeru Kinoshita, Matthias Zenkel, Ying Swan Ho, Nevbahar Tamçelik, Masakazu Nakano, Jonathan L. Haines, Nino Kobakhidze, Kazuhiko Mori, Esther Kai Lay Peh, Francesca Pasutto, Georg Mossböck, Anthi Chatzikyriakidou, Robert P. Igo, Etsuo Chihara, Kazuhisa Sugiyama, Janey L. Wiggs, Michael V. Dubina, Shuwen Chen, Paul E Rafuse, Xiao Yin Chen, Trevor R. Carmichael, Kei Tashiro, Miguel Coca-Prados, Claus Hellerbrand, Shigeyasu Kazama, Çilingir Oguz, Alexandros Lambropoulos, Patrick Tan, Michael A. Hauser, Burcu Kasım, Michèle Ramsay, Morio Ueno, Kana Tokumo, Kenji Inoue, Robert Ritch, Tomasz Zarnowski, Toshiaki Kubota, Sonia Davila, Steffen Heegaard, Ryuichi Ideta, Lydia Álvarez, Yoko Ikeda, Chiea Chuen Khor, Susan Williams, Satoshi Ishiko, Louis R. Pasquale, Eugeny L. Akopov, Antonio Salas, Alina Popa-Cherecheanu, Monisha E. Nongpiur, Héctor González-Iglesias, Urszula Lukasik, Jia Nee Foo, Augustine Cheong, Zhenxun Wang, Mei Chin Lee, Anita Chan, Kazunori Miyata

Publikováno v: Li, Z, Wang, Z, Lee, M C, Zenkel, M, Peh, E, Ozaki, M, Topouzis, F, Nakano, S, Chan, A, Chen, S, Williams, S E I, Orr, A, Nakano, M, Kobakhidze, N, Zarnowski, T, Popa-Cherecheanu, A, Mizoguchi, T, Manabe, S I, Hayashi, K, Kazama, S, Inoue, K, Mori, Y, Miyata, K, Sugiyama, K, Higashide, T, Chihara, E, Ideta, R, Ishiko, S, Yoshida, A, Tokumo, K, Kiuchi, Y, Ohashi, T, Sakurai, T, Sugimoto, T, Chuman, H, Aihara, M, Inatani, M, Mori, K, Ikeda, Y, Ueno, M, Gaston, D, Rafuse, P, Shuba, L, Saunders, J, Nicolela, M, Chichua, G, Tabagari, S, Founti, P, Sim, K S, Meah, W Y, Soo, H M, Chen, X Y, Chatzikyriakidou, A, Keskini, C, Pappas, T, Anastasopoulos, E, Lambropoulos, A, Panagiotou, E S, Mikropoulos, D G, Kosior-Jarecka, E, Cheong, A, Li, Y, Lukasik, U, Nongpiur, M E, Husain, R, Perera, S A, Álvarez, L, García, M, González-Iglesias, H, Cueto, A F V, Cueto, L F V, Martinón-Torres, F, Salas, A, Oguz, Ç, Tamcelik, N, Atalay, E, Batu, B, Irkec, M, Aktas, D, Kasim, B, Astakhov, Y S, Astakhov, S Y, Akopov, E L, Giessl, A, Mardin, C, Hellerbrand, C, Cooke Bailey, J N, Igo, R P, Haines, J L, Edward, D P, Heegaard, S, Davila, S, Tan, P, Kang, J H, Pasquale, L R, Kruse, F E, Reis, A, Carmichael, T R, Hauser, M, Ramsay, M, Mossböck, G, Yildirim, N, Tashiro, K, Konstas, A G P, Coca-Prados, M, Foo, J N, Kinoshita, S, Sotozono, C, Kubota, T, Dubina, M, Ritch, R, Wiggs, J L, Pasutto, F, Schlötzer-Schrehardt, U, Ho, Y S, Aung, T, Tam, W L & Khor, C C 2021, ' Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye ', JAMA-Journal of the American Medical Association, vol. 325, no. 8, pp. 753-764 . https://doi.org/10.1001/jama.2021.0507
JAMA

IMPORTANCE Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of gla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492fd10cc3be1c2e6ce99fba50a43fb1
https://doi.org/10.1001/jama.2021.0507

Polymerase chain reaction (PCR) and sequence specific oligonucleotide probes (SSOP) genotyping assay for detection of genes associated with rheumatoid arthritis and multiple sclerosis

Autor: Konstantina Nikolaou, Nikolaos Giannakeas, Fanis G. Kalatzis, Sofia Markoula, Ioannis Georgiou, Dimitrios I. Fotiadis, Anthi Chatzikyriakidou

Publikováno v: 2010 Annual International Conference of the IEEE Engineering in Medicine and Biology.

In this paper an assay for the detection of genes associated with rheumatoid arthritis (RA) and multiple sclerosis, using polymerase chain reaction (PCR) and sequence specific oligonucleotide probes (SSOP) is presented, in order to be further applied

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68bbd9ce82d41a7cab6d03a818a5e40d
https://doi.org/10.1109/iembs.2010.5627739

Effects of sexual intercourse on testicular function

Autor: Charalampos Mamoulakis, Dimitrios Yannakis, Anthi Chatzikyriakidou, N. Kanakas, Ikuo Miyagawa, Nikolaos Sofikitis

Publikováno v: Fertility and Sterility. 78:S266

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e19360507e890360787e4a6c48b4a141
https://doi.org/10.1016/s0015-0282(02)03911-0