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dc.contributor.author | Aung, Tin | |
dc.contributor.author | Ozaki, Mineo | |
dc.contributor.author | Lee, Mei Chin | |
dc.contributor.author | Schlotzer-Schrehardt, Ursula | |
dc.contributor.author | Thorleifsson, Gudmar | |
dc.contributor.author | Mizoguchi, Takanori | |
dc.contributor.author | Igo, Robert P. Jr | |
dc.contributor.author | Haripriya, Aravind | |
dc.contributor.author | Williams, Susan E. | |
dc.contributor.author | Astakhov, Yury S. | |
dc.contributor.author | Orr, Andrew C. | |
dc.contributor.author | Burdon, Kathryn P. | |
dc.contributor.author | Nakano, Satoko | |
dc.contributor.author | Mori, Kazuhiko | |
dc.contributor.author | Abu-Amero, Khaled | |
dc.contributor.author | Hauser, Michael | |
dc.contributor.author | Li, Zheng | |
dc.contributor.author | Prakadeeswari, Gopalakrishnan | |
dc.contributor.author | Bailey, Jessica N. Cooke | |
dc.contributor.author | Cherecheanu, Alina Popa | |
dc.contributor.author | Kang, Jae H. | |
dc.contributor.author | Nelson, Sarah | |
dc.contributor.author | Hayashi, Ken | |
dc.contributor.author | Manabe, Shin-Ichi | |
dc.contributor.author | Kazama, Shigeyasu | |
dc.contributor.author | Zarnowski, Tomasz | |
dc.contributor.author | Inoue, Kenji | |
dc.contributor.author | Irkec, Murat | |
dc.contributor.author | Coca-Prados, Miguel | |
dc.contributor.author | Sugiyama, Kazuhisa | |
dc.contributor.author | Jarvela, Irma | |
dc.contributor.author | Schlottmann, Patricio | |
dc.contributor.author | Lerner, S. Fabian | |
dc.contributor.author | Lamari, Hasnaa | |
dc.contributor.author | Nilgun, Yildirim | |
dc.contributor.author | Bikbov, Mukharram | |
dc.contributor.author | Park, Ki Ho | |
dc.contributor.author | Cha, Soon Cheol | |
dc.contributor.author | Yamashiro, Kenji | |
dc.contributor.author | Zenteno, Juan C. | |
dc.contributor.author | Jonas, Jost B. | |
dc.contributor.author | Kumar, Rajesh S. | |
dc.contributor.author | Perera, Shamira A. | |
dc.contributor.author | Chan, Anita S. Y. | |
dc.contributor.author | Kobakhidze, Nino | |
dc.contributor.author | George, Ronnie | |
dc.contributor.author | Vijaya, Lingam | |
dc.contributor.author | Do, Tan | |
dc.contributor.author | Edward, Deepak P. | |
dc.contributor.author | de Juan Marcos, Lourdes | |
dc.contributor.author | Pakravan, Mohammad | |
dc.contributor.author | Moghimi, Sasan | |
dc.contributor.author | Ideta, Ryuichi | |
dc.contributor.author | Bach-Holm, Daniella | |
dc.contributor.author | Kappelgaard, Per | |
dc.contributor.author | Wirostko, Barbara | |
dc.contributor.author | Thomas, Samuel | |
dc.contributor.author | Gaston, Daniel | |
dc.contributor.author | Bedard, Karen | |
dc.contributor.author | Greer, Wenda L. | |
dc.contributor.author | Yang, Zhenglin | |
dc.contributor.author | Chen, Xueyi | |
dc.contributor.author | Huang, Lulin | |
dc.contributor.author | Sang, Jinghong | |
dc.contributor.author | Jia, Hongyan | |
dc.contributor.author | Jia, Liyun | |
dc.contributor.author | Qiao, Chunyan | |
dc.contributor.author | Zhang, Hui | |
dc.contributor.author | Liu, Xuyang | |
dc.contributor.author | Zhao, Bowen | |
dc.contributor.author | Wang, Ya-Xing | |
dc.contributor.author | Xu, Liang | |
dc.contributor.author | Leruez, Stephanie | |
dc.contributor.author | Reynier, Pascal | |
dc.contributor.author | Chichua, George | |
dc.contributor.author | Tabagari, Sergo | |
dc.contributor.author | Uebe, Steffen | |
dc.contributor.author | Zenkel, Matthias | |
dc.contributor.author | Berner, Daniel | |
dc.contributor.author | Mossbock, Georg | |
dc.contributor.author | Weisschuh, Nicole | |
dc.contributor.author | Hoja, Ursula | |
dc.contributor.author | Welge-Luessen, Ulrich-Christoph | |
dc.contributor.author | Mardin, Christian | |
dc.contributor.author | Founti, Panayiota | |
dc.contributor.author | Chatzikyriakidou, Anthi | |
dc.contributor.author | Pappas, Theofanis | |
dc.contributor.author | Anastasopoulos, Eleftherios | |
dc.contributor.author | Lambropoulos, Alexandros | |
dc.contributor.author | Ghosh, Arkasubhra | |
dc.contributor.author | Shetty, Rohit | |
dc.contributor.author | Porporato, Natalia | |
dc.contributor.author | Saravanan, Vijayan | |
dc.contributor.author | Venkatesh, Rengaraj | |
dc.contributor.author | Shivkumar, Chandrashekaran | |
dc.contributor.author | Kalpana, Narendran | |
dc.contributor.author | Sarangapani, Sripriya | |
dc.contributor.author | Kanavi, Mozhgan R. | |
dc.contributor.author | Beni, Afsaneh Naderi | |
dc.contributor.author | Yazdani, Shahin | |
dc.contributor.author | Lashay, Alireza | |
dc.contributor.author | Naderifar, Homa | |
dc.contributor.author | Khatibi, Nassim | |
dc.contributor.author | Fea, Antonio | |
dc.contributor.author | Lavia, Carlo | |
dc.contributor.author | Dallorto, Laura | |
dc.contributor.author | Rolle, Teresa | |
dc.contributor.author | Frezzotti, Paolo | |
dc.contributor.author | Paoli, Daniela | |
dc.contributor.author | Salvi, Erika | |
dc.contributor.author | Manunta, Paolo | |
dc.contributor.author | Mori, Yosai | |
dc.contributor.author | Miyata, Kazunori | |
dc.contributor.author | Higashide, Tomomi | |
dc.contributor.author | Chihara, Etsuo | |
dc.contributor.author | Ishiko, Satoshi | |
dc.contributor.author | Yoshida, Akitoshi | |
dc.contributor.author | Yanagi, Masahide | |
dc.contributor.author | Kiuchi, Yoshiaki | |
dc.contributor.author | Ohashi, Tsutomu | |
dc.contributor.author | Sakurai, Toshiya | |
dc.contributor.author | Sugimoto, Takako | |
dc.contributor.author | Chuman, Hideki | |
dc.contributor.author | Aihara, Makoto | |
dc.contributor.author | Inatani, Masaru | |
dc.contributor.author | Miyake, Masahiro | |
dc.contributor.author | Gotoh, Norimoto | |
dc.contributor.author | Matsuda, Fumihiko | |
dc.contributor.author | Yoshimura, Nagahisa | |
dc.contributor.author | Ikeda, Yoko | |
dc.contributor.author | Ueno, Morio | |
dc.contributor.author | Sotozono, Chie | |
dc.contributor.author | Jeoung, Jin Wook | |
dc.contributor.author | Sagong, Min | |
dc.contributor.author | Park, Kyu Hyung | |
dc.contributor.author | Ahn, Jeeyun | |
dc.contributor.author | Cruz-Aguilar, Marisa | |
dc.contributor.author | Ezzouhairi, Sidi M. | |
dc.contributor.author | Rafei, Abderrahman | |
dc.contributor.author | Chong, Yaan Fun | |
dc.contributor.author | Ng, Xiao Yu | |
dc.contributor.author | Goh, Shuang Ru | |
dc.contributor.author | Chen, Yueming | |
dc.contributor.author | Yong, Victor H. K. | |
dc.contributor.author | Khan, Muhammad Imran | |
dc.contributor.author | Olawoye, Olusola O. | |
dc.contributor.author | Ashaye, Adeyinka O. | |
dc.contributor.author | Ugbede, Idakwo | |
dc.contributor.author | Onakoya, Adeola | |
dc.contributor.author | Kizor-Akaraiwe, Nkiru | |
dc.contributor.author | Teekhasaenee, Chaiwat | |
dc.contributor.author | Suwan, Yanin | |
dc.contributor.author | Supakontanasan, Wasu | |
dc.contributor.author | Okeke, Suhanya | |
dc.contributor.author | Uche, Nkechi J. | |
dc.contributor.author | Asimadu, Ifeoma | |
dc.contributor.author | Ayub, Humaira | |
dc.contributor.author | Akhtar, Farah | |
dc.contributor.author | Kosior-Jarecka, Ewa | |
dc.contributor.author | Lukasik, Urszula | |
dc.contributor.author | Lischinsky, Ignacio | |
dc.contributor.author | Castro, Vania | |
dc.contributor.author | Grossmann, Rodolfo Perez | |
dc.contributor.author | Sunaric Megevand, Gordana | |
dc.contributor.author | Roy, Sylvain | |
dc.contributor.author | Dervan, Edward | |
dc.contributor.author | Silke, Eoin | |
dc.contributor.author | Rao, Aparna | |
dc.contributor.author | Sahay, Priti | |
dc.contributor.author | Fornero, Pablo | |
dc.contributor.author | Cuello, Osvaldo | |
dc.contributor.author | Sivori, Delia | |
dc.contributor.author | Zompa, Tamara | |
dc.contributor.author | Mills, Richard A. | |
dc.contributor.author | Souzeau, Emmanuelle | |
dc.contributor.author | Mitchell, Paul | |
dc.contributor.author | Wang, Jie Jin | |
dc.contributor.author | Hewitt, Alex W. | |
dc.contributor.author | Coote, Michael | |
dc.contributor.author | Crowston, Jonathan G. | |
dc.contributor.author | Astakhov, Sergei Y. | |
dc.contributor.author | Akopov, Eugeny L. | |
dc.contributor.author | Emelyanov, Anton | |
dc.contributor.author | Vysochinskaya, Vera | |
dc.contributor.author | Kazakbaeva, Gyulli | |
dc.contributor.author | Fayzrakhmanov, Rinat | |
dc.contributor.author | Al-Obeidan, Saleh A. | |
dc.contributor.author | Owaidhah, Ohoud | |
dc.contributor.author | Aljasim, Leyla Ali | |
dc.contributor.author | Chowbay, Balram | |
dc.contributor.author | Foo, Jia Nee | |
dc.contributor.author | Soh, Raphael Q. | |
dc.contributor.author | Sim, Kar Seng | |
dc.contributor.author | Xie, Zhicheng | |
dc.contributor.author | Cheong, Augustine W. O. | |
dc.contributor.author | Mok, Shi Qi | |
dc.contributor.author | Soo, Hui Meng | |
dc.contributor.author | Chen, Xiao Yin | |
dc.contributor.author | Peh, Su Qin | |
dc.contributor.author | Heng, Khai Koon | |
dc.contributor.author | Husain, Rahat | |
dc.contributor.author | Ho, Su-Ling | |
dc.contributor.author | Hillmer, Axel M. | |
dc.contributor.author | Cheng, Ching-Yu | |
dc.contributor.author | Escudero-Dominguez, Francisco A. | |
dc.contributor.author | Gonzalez-Sarmiento, Rogelio | |
dc.contributor.author | Martinon-Torres, Frederico | |
dc.contributor.author | Salas, Antonio | |
dc.contributor.author | Pathanapitoon, Kessara | |
dc.contributor.author | Hansapinyo, Linda | |
dc.contributor.author | Wanichwecharugruang, Boonsong | |
dc.contributor.author | Kitnarong, Naris | |
dc.contributor.author | Sakuntabhai, Anavaj | |
dc.contributor.author | Nguyn, Hip X. | |
dc.contributor.author | Nguyn, Giang T. T. | |
dc.contributor.author | Nguyn, Trinh V. | |
dc.contributor.author | Zenz, Werner | |
dc.contributor.author | Binder, Alexander | |
dc.contributor.author | Klobassa, Daniela S. | |
dc.contributor.author | Hibberd, Martin L. | |
dc.contributor.author | Davila, Sonia | |
dc.contributor.author | Herms, Stefan | |
dc.contributor.author | Nothen, Markus M. | |
dc.contributor.author | Moebus, Susanne | |
dc.contributor.author | Rautenbach, Robyn M. | |
dc.contributor.author | Ziskind, Ari | |
dc.contributor.author | Carmichael, Trevor R. | |
dc.contributor.author | Ramsay, Michele | |
dc.contributor.author | Alvarez, Lydia | |
dc.contributor.author | Garcia, Montserrat | |
dc.contributor.author | Gonzalez-Iglesias, Hector | |
dc.contributor.author | Rodriguez-Calvo, Pedro P. | |
dc.contributor.author | Fernandez-Vega Cueto, Luis | |
dc.contributor.author | Oguz, Cilingir | |
dc.contributor.author | Tamcelik, Nevbahar | |
dc.contributor.author | Atalay, Eray | |
dc.contributor.author | Batu, Bilge | |
dc.contributor.author | Aktas, Dilek | |
dc.contributor.author | Kasim, Burcu | |
dc.contributor.author | Wilson, M. Roy | |
dc.contributor.author | Coleman, Anne L. | |
dc.contributor.author | Liu, Yutao | |
dc.contributor.author | Challa, Pratap | |
dc.contributor.author | Herndon, Leon | |
dc.contributor.author | Kuchtey, Rachel W. | |
dc.contributor.author | Kuchtey, John | |
dc.contributor.author | Curtin, Karen | |
dc.contributor.author | Chaya, Craig J. | |
dc.contributor.author | Crandall, Alan | |
dc.contributor.author | Zangwill, Linda M. | |
dc.contributor.author | Wong, Tien Yin | |
dc.contributor.author | Nakano, Masakazu | |
dc.contributor.author | Kinoshita, Shigeru | |
dc.contributor.author | den Hollander, Anneke I. | |
dc.contributor.author | Vesti, Eija | |
dc.contributor.author | Fingert, John H. | |
dc.contributor.author | Lee, Richard K. | |
dc.contributor.author | Sit, Arthur J. | |
dc.contributor.author | Shingleton, Bradford J. | |
dc.contributor.author | Wang, Ningli | |
dc.contributor.author | Cusi, Daniele | |
dc.contributor.author | Qamar, Raheel | |
dc.contributor.author | Kraft, Peter | |
dc.contributor.author | Pericak-Vance, Margaret A. | |
dc.contributor.author | Raychaudhuri, Soumya | |
dc.contributor.author | Heegaard, Steffen | |
dc.contributor.author | Kivela, Tero | |
dc.contributor.author | Reis, Andre | |
dc.contributor.author | Kruse, Friedrich E. | |
dc.contributor.author | Weinreb, Robert N. | |
dc.contributor.author | Pasquale, Louis R. | |
dc.contributor.author | Haines, Jonathan L. | |
dc.contributor.author | Thorsteinsdottir, Unnur | |
dc.contributor.author | Jonasson, Fridbert | |
dc.contributor.author | Allingham, R. Rand | |
dc.contributor.author | Milea, Dan | |
dc.contributor.author | Ritch, Robert | |
dc.contributor.author | Kubota, Toshiaki | |
dc.contributor.author | Tashiro, Kei | |
dc.contributor.author | Vithana, Eranga N. | |
dc.contributor.author | Micheal, Shazia | |
dc.contributor.author | Topouzis, Fotis | |
dc.contributor.author | Craig, Jamie E. | |
dc.contributor.author | Dubina, Michael | |
dc.contributor.author | Sundaresan, Periasamy | |
dc.contributor.author | Stefansson, Kari | |
dc.contributor.author | Wiggs, Janey L. | |
dc.contributor.author | Pasutto, Francesca | |
dc.contributor.author | Khor, Chiea Chuen | |
dc.date.accessioned | 2019-01-25T15:18:35Z | |
dc.date.available | 2019-01-25T15:18:35Z | |
dc.date.issued | 2017 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12866/4663 | |
dc.description.abstract | 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 < 5 x 10(-8)). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology. | en_US |
dc.language.iso | eng | |
dc.publisher | Springer Nature | |
dc.relation.ispartofseries | Nature Genetics | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es | |
dc.subject | Female | en_US |
dc.subject | Humans | en_US |
dc.subject | Male | en_US |
dc.subject | Aged, 80 and over | en_US |
dc.subject | Alleles | en_US |
dc.subject | Haplotypes | en_US |
dc.subject | Genome-Wide Association Study | en_US |
dc.subject | Mutation, Missense | en_US |
dc.subject | Point Mutation | en_US |
dc.subject | Amino Acid Oxidoreductases/genetics/physiology | en_US |
dc.subject | Amino Acid Substitution | en_US |
dc.subject | Asian Continental Ancestry Group/genetics | en_US |
dc.subject | Calcium Channels/genetics | en_US |
dc.subject | Cell Adhesion | en_US |
dc.subject | Exfoliation Syndrome/ethnology/genetics | en_US |
dc.subject | Extracellular Matrix/metabolism | en_US |
dc.subject | Eye/metabolism | en_US |
dc.subject | Gene Expression Profiling | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | Molecular Chaperones/biosynthesis/genetics | en_US |
dc.subject | RNA, Messenger/biosynthesis | en_US |
dc.subject | Spheroids, Cellular | en_US |
dc.title | Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci | en_US |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | https://doi.org/10.1038/ng.3875 | |
dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#1.06.07 | |
dc.relation.issn | 1546-1718 |
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