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Título:
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
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Autores:
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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 ;
Mossbock, 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 ;
Grossmann, Rodolfo Perez ;
Sunaric Megevand, Gordana ;
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, Trinh 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. ;
Fernández-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
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Tipo de documento:
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texto impreso
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Editorial:
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Nature Research, 2019-01-25T15:18:35Z
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Nota general:
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info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Idiomas:
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Inglés
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Palabras clave:
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Editados por otras instituciones
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Artículos
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Artículos en revistas indizadas
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Resumen:
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Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 x 10(-14)) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P
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En línea:
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http://doi.org/10.1038/ng.3875
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