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

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Autor: Tina T. Wong, Yaan Fun Chong, Kathryn P. Burdon, Sancy Low, Ningli Wang, Tuan Anh Tran, Emma Rusmayani, Alexander C Day, Kei Tashiro, Tam Thi Luu, Aye Thi Han, Christine A. Kiire, Nay Lin Oo, Hiroshi Sakai, Ewa Kosior-Jarecka, Sripriya Sarangapani, Mimiwati Zahari, Widya Artini Wiyogo, Seng-Chee Loon, Rigo Daniel Reyes, Rrima Dada, Robert Ritch, E-Shyong Tai, Jin-Xin Bei, Ren-Yi Wu, Balekudaru Shantha, Leyla Al-Jasim, Giulia Consolandi, Ya Xing Wang, Saleh A. Al-Obeidan, Tomasz Zarnowski, Shazia Micheal, Maria Luisa Guevara-Fujita, Raquel Quino, Yuzhen Jiang, Monisha E. Nongpiur, Yik Y. Teo, Francesca Pasutto, Hailin Meng, Mani Baskaran, Shigeru Kinoshita, Sunee Chansangpetch, Clement C Y Tham, Eranga N. Vithana, Paul J. Foster, Greet J. Boland, Deepak P. Edward, Young Hoon Hwang, Daniel H. Su, Ricardo Fujita, Huan Nguyen Pham, Yong Ho Sohn, Mark Seielstad, Rengaraj Venkatesh, Paul Mitchell, Morio Ueno, Chaw Chaw Khaing, Thanh Thu Nguyen, Celso Tello, Anita S. Chan, Muhammad Imran Khan, Vernon Yong, Eileen Png, Takanori Mizoguchi, Nguyen Van Vinh Chau, Soo Hong Chew, Laura Dallorto, Chunyan Qiao, Donald T.H. Tan, Norlina Ramli, Mei Chin Lee, Rahat Husain, Kar Seng Sim, Sarah J. Dunstan, Kyu Hyung Park, Stephen A Vernon, Thi Nguyen, Rodolfo A. Perez-Grossmann, Jelinar Mohamed-Noor, Jeeyun Ahn, David Lozano-Giral, Tan Do, Yin Mon Aung, Prin Rojanapongpun, Naris Kitnarong, Martin L. Hibberd, Chan-Yun Kim, Mineo Ozaki, Manchima Makornwattana, Ronnie George, José Paulo Cabral de Vasconcellos, Huong T T Bui, Chona S Liao, Saw Htoo Set, Chi Pui Pang, Paul T K Chew, Aliza Jap, Naushin Waseem, Toshiaki Kubota, Tanuj Dada, Hyoung Won Bae, Tin Aung, Ricardo Y. Abe, Khin Thida Oo, Periasamy Sundaresan, Jose Maria Martinez, Visanee Tantisevi, Shomi S. Bhattacharya, Anneke I. den Hollander, Vira Wardhana Istiantoro, Rohit Shetty, Boonsong Wanichwecharungruang, Liang Xu, Seng Kheong Fang, Masakazu Nakano, E. Randy Craven, Richard P. Ebstein, Ching-Lin Ho, Arkasubhra Ghosh, Jeanne J. Ogle, Hongyan Jia, Muneeb A. Faiq, Yasuo Kurimoto, Michiko Yonahara, Richard Stead, Li Jia Chen, Satoko Nakano, Anavaj Sakuntabhai, Masako Kuroda, Thayanithi Sandragasu, Leonard W. Yip, Lerprat Mangkornkanokpong, Pancy O. S. Tam, Seang-Mei Saw, Ching-Yu Cheng, Saravanan Vijayan, Jia Nee Foo, M B Melo, Wing Lau Ho, Ahmad Tajudin Liza-Sharmini, Alex W. Hewitt, Mary Ann T Catacutan, Carlo Lavia, Curt Hartleben-Matkin, Hon-Tym Wong, Daniela Paoli, Srinivasan Kavitha, Su Nyunt Zaw, Soon Thye Lim, Owen Hee, Yee Yee Aung, Shuang Ru Goh, Chiea Chuen Khor, Maria Cecilia Aquino, Jonathan C.H. Chan, Buddha Basnyat, Zeiras Eka Djamal, Nhu Hon Do, Tuyet Bach Trinh, John H. Fingert, Z. Xie, Thi Lam Huong Dao, Urszula Lukasik, Bruno Batista de Souza, Khaled K. Abu-Amero, Yoko Ikeda, Guillermo Barreto Fong, Eng Hui Gan, Guangxian Tang, Sami Al-Shahwan, Tien Dat Tran, Jost B. Jonas, Xiao Yin Chen, Nagaswamy Soumittra, David Goh, Ramanjit Sihota, Xiao-Yu Ng, Ki Ho Park, Mona S Awadalla, Sujie Fan, Edgar U Leuenberger, Hlaing May Than, Jimmy S. M. Lai, Yi Xin Zeng, Shamira A. Perera, Bonnie Nga Kwan Choy, Jie Jin Wang, Roopam Duvesh, Antonio Maria Fea, Anita Manassakorn, Victor H. K. Yong, Abhilasha Karkey, John F Salmon, Kessara Pathanapitoon, Raheel Qamar, Juan Carlos Zenteno, Jin Wook Jeoung, Jovell Ian M Peregrino, Harm Snippe, Yaakub Azhany, Humaira Ayub, Vania Castro Tamanaja, Paolo Frezzotti, Tung S Hoan, Rajesh S. Kumar, Chelvin C A Sng, Jamie E Craig, Anuwat Prutthipongsit, Vital Paulino Costa, Subbiah. R. Krishnadas, Kuldeep Mohanty, Michael A. Hauser, Vi Huyen Doan, Irene R Felarca, Lingam Vijaya, Jennifer W. H. Shum, Farah Akhtar, R. Rand Allingham, Nuttamon Srisamran, Desmond Quek, Huaizhou Wang, Thipnapa Patthanathamrongkasem, Giulia Pignata, Suman S Thapa, Kazuhiko Mori, Jamil Miguel Neto, Tien Yin Wong, Boon-Ang Lim, Zheng Li

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (5), pp.556-562. ⟨10.1038/ng.3540⟩
Nature Genetics, 2016, 48 (5), pp.556-562. ⟨10.1038/ng.3540⟩

International audience; Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0185d28484b54cebde1cf79b10107d89
https://hal-pasteur.archives-ouvertes.fr/pasteur-02083054

Primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 encodes a novel Rac1/Cdc42 GAP that modulates cell migration and blood-aqueous barrier function.

Autor: Mei-Chin Lee, Shei, William, Chan, Anita S., Boon-Tin Chua, Shuang-Ru Goh, Yaan-Fun Chong, Hilmy, Maryam H., Nongpiur, Monisha E., Baskaran, Mani, Chiea-Chuen Khor, Tin Aung, Hunziker, Walter, Vithana, Eranga N.

Publikováno v: Human Molecular Genetics; 10/15/2017, Vol. 26 Issue 20, p4011-4027, 17p

TEADs Mediate Nuclear Retention of TAZ to Promote Oncogenic Transformation.

Autor: Siew Wee Chan¹, Chun Jye Lim¹, Li Shen Loo¹, Yaan Fun Chong¹, Caixia Huang¹, Wanjin Hong¹ mcbhwj@imcb.a-star.edu.sg

Publikováno v: Journal of Biological Chemistry. 5/22/2009, Vol. 284 Issue 21, p14347-14358. 12p. 6 Graphs.