%0 Journal Article %J Nat Genet %D 2017 %T Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci %A Aung, Tin %A Ozaki, Mineo %A Lee, Mei Chin %A Schlötzer-Schrehardt, Ursula %A Thorleifsson, Gudmar %A Mizoguchi, Takanori %A Igo, Robert P %A Haripriya, Aravind %A Williams, Susan E %A Astakhov, Yury S %A Orr, Andrew C %A Burdon, Kathryn P %A Nakano, Satoko %A Mori, Kazuhiko %A Abu-Amero, Khaled %A Hauser, Michael %A Li, Zheng %A Prakadeeswari, Gopalakrishnan %A Bailey, Jessica N Cooke %A Cherecheanu, Alina Popa %A Kang, Jae H %A Nelson, Sarah %A Hayashi, Ken %A Manabe, Shin-Ichi %A Kazama, Shigeyasu %A Zarnowski, Tomasz %A Inoue, Kenji %A Irkec, Murat %A Coca-Prados, Miguel %A Sugiyama, Kazuhisa %A Järvelä, Irma %A Schlottmann, Patricio %A Lerner, S Fabian %A Lamari, Hasnaa %A Nilgün, Yildirim %A Bikbov, Mukharram %A Park, Ki Ho %A Cha, Soon Cheol %A Yamashiro, Kenji %A Zenteno, Juan C %A Jonas, Jost B %A Kumar, Rajesh S %A Perera, Shamira A %A Chan, Anita S Y %A Kobakhidze, Nino %A George, Ronnie %A Vijaya, Lingam %A Do, Tan %A Edward, Deepak P %A de Juan Marcos, Lourdes %A Pakravan, Mohammad %A Moghimi, Sasan %A Ideta, Ryuichi %A Bach-Holm, Daniella %A Kappelgaard, Per %A Wirostko, Barbara %A Thomas, Samuel %A Gaston, Daniel %A Bedard, Karen %A Greer, Wenda L %A Yang, Zhenglin %A Chen, Xueyi %A Huang, Lulin %A Sang, Jinghong %A Jia, Hongyan %A Jia, Liyun %A Qiao, Chunyan %A Zhang, Hui %A Liu, Xuyang %A Zhao, Bowen %A Wang, Ya-Xing %A Xu, Liang %A Leruez, Stéphanie %A Reynier, Pascal %A Chichua, George %A Tabagari, Sergo %A Uebe, Steffen %A Zenkel, Matthias %A Berner, Daniel %A Mossböck, Georg %A Weisschuh, Nicole %A Hoja, Ursula %A Welge-Luessen, Ulrich-Christoph %A Mardin, Christian %A Founti, Panayiota %A Chatzikyriakidou, Anthi %A Pappas, Theofanis %A Anastasopoulos, Eleftherios %A Lambropoulos, Alexandros %A Ghosh, Arkasubhra %A Shetty, Rohit %A Porporato, Natalia %A Saravanan, Vijayan %A Venkatesh, Rengaraj %A Shivkumar, Chandrashekaran %A Kalpana, Narendran %A Sarangapani, Sripriya %A Kanavi, Mozhgan R %A Beni, Afsaneh Naderi %A Yazdani, Shahin %A Lashay, Alireza %A Naderifar, Homa %A Khatibi, Nassim %A Fea, Antonio %A Lavia, Carlo %A Dallorto, Laura %A Rolle, Teresa %A Frezzotti, Paolo %A Paoli, Daniela %A Salvi, Erika %A Manunta, Paolo %A Mori, Yosai %A Miyata, Kazunori %A Higashide, Tomomi %A Chihara, Etsuo %A Ishiko, Satoshi %A Yoshida, Akitoshi %A Yanagi, Masahide %A Kiuchi, Yoshiaki %A Ohashi, Tsutomu %A Sakurai, Toshiya %A Sugimoto, Takako %A Chuman, Hideki %A Aihara, Makoto %A Inatani, Masaru %A Miyake, Masahiro %A Gotoh, Norimoto %A Matsuda, Fumihiko %A Yoshimura, Nagahisa %A Ikeda, Yoko %A Ueno, Morio %A Sotozono, Chie %A Jeoung, Jin Wook %A Sagong, Min %A Park, Kyu Hyung %A Ahn, Jeeyun %A Cruz-Aguilar, Marisa %A Ezzouhairi, Sidi M %A Rafei, Abderrahman %A Chong, Yaan Fun %A Ng, Xiao Yu %A Goh, Shuang Ru %A Chen, Yueming %A Yong, Victor H K %A Khan, Muhammad Imran %A Olawoye, Olusola O %A Ashaye, Adeyinka O %A Ugbede, Idakwo %A Onakoya, Adeola %A Kizor-Akaraiwe, Nkiru %A Teekhasaenee, Chaiwat %A Suwan, Yanin %A Supakontanasan, Wasu %A Okeke, Suhanya %A Uche, Nkechi J %A Asimadu, Ifeoma %A Ayub, Humaira %A Akhtar, Farah %A Kosior-Jarecka, Ewa %A Lukasik, Urszula %A Lischinsky, Ignacio %A Castro, Vania %A Grossmann, Rodolfo Perez %A Megevand, Gordana Sunaric %A Roy, Sylvain %A Dervan, Edward %A Silke, Eoin %A Rao, Aparna %A Sahay, Priti %A Fornero, Pablo %A Cuello, Osvaldo %A Sivori, Delia %A Zompa, Tamara %A Mills, Richard A %A Souzeau, Emmanuelle %A Mitchell, Paul %A Wang, Jie Jin %A Hewitt, Alex W %A Coote, Michael %A Crowston, Jonathan G %A Astakhov, Sergei Y %A Akopov, Eugeny L %A Emelyanov, Anton %A Vysochinskaya, Vera %A Kazakbaeva, Gyulli %A Fayzrakhmanov, Rinat %A Al-Obeidan, Saleh A %A Owaidhah, Ohoud %A Aljasim, Leyla Ali %A Chowbay, Balram %A Foo, Jia Nee %A Soh, Raphael Q %A Sim, Kar Seng %A Xie, Zhicheng %A Cheong, Augustine W O %A Mok, Shi Qi %A Soo, Hui Meng %A Chen, Xiao Yin %A Peh, Su Qin %A Heng, Khai Koon %A Husain, Rahat %A Ho, Su-Ling %A Hillmer, Axel M %A Cheng, Ching-Yu %A Escudero-Domínguez, Francisco A %A González-Sarmiento, Rogelio %A Martinon-Torres, Frederico %A Salas, Antonio %A Pathanapitoon, Kessara %A Hansapinyo, Linda %A Wanichwecharugruang, Boonsong %A Kitnarong, Naris %A Sakuntabhai, Anavaj %A Nguyn, Hip X %A Nguyn, Giang T T %A Nguyn, Trình V %A Zenz, Werner %A Binder, Alexander %A Klobassa, Daniela S %A Hibberd, Martin L %A Davila, Sonia %A Herms, Stefan %A Nöthen, Markus M %A Moebus, Susanne %A Rautenbach, Robyn M %A Ziskind, Ari %A Carmichael, Trevor R %A Ramsay, Michele %A Álvarez, Lydia %A García, Montserrat %A González-Iglesias, Héctor %A Rodríguez-Calvo, Pedro P %A Cueto, Luis Fernández-Vega %A Oguz, Çilingir %A Tamcelik, Nevbahar %A Atalay, Eray %A Batu, Bilge %A Aktas, Dilek %A Kasım, Burcu %A Wilson, M Roy %A Coleman, Anne L %A Liu, Yutao %A Challa, Pratap %A Herndon, Leon %A Kuchtey, Rachel W %A Kuchtey, John %A Curtin, Karen %A Chaya, Craig J %A Crandall, Alan %A Zangwill, Linda M %A Wong, Tien Yin %A Nakano, Masakazu %A Kinoshita, Shigeru %A den Hollander, Anneke I %A Vesti, Eija %A Fingert, John H %A Lee, Richard K %A Sit, Arthur J %A Shingleton, Bradford J %A Wang, Ningli %A Cusi, Daniele %A Qamar, Raheel %A Kraft, Peter %A Pericak-Vance, Margaret A %A Raychaudhuri, Soumya %A Heegaard, Steffen %A Kivelä, Tero %A Reis, André %A Kruse, Friedrich E %A Weinreb, Robert N %A Pasquale, Louis R %A Haines, Jonathan L %A Thorsteinsdottir, Unnur %A Jonasson, Fridbert %A Allingham, R Rand %A Milea, Dan %A Ritch, Robert %A Kubota, Toshiaki %A Tashiro, Kei %A Vithana, Eranga N %A Micheal, Shazia %A Topouzis, Fotis %A Craig, Jamie E %A Dubina, Michael %A Sundaresan, Periasamy %A Stefansson, Kari %A Wiggs, Janey L %A Pasutto, Francesca %A Khor, Chiea Chuen %X 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 × 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 × 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. %B Nat Genet %V 49 %P 993-1004 %8 2017 Jul %G eng %U https://www.ncbi.nlm.nih.gov/pubmed/?term=Genetic+association+study+of+exfoliation+syndrome+identifies+a+protective+rare+variant+at+LOXL1+and+five+new+susceptibility+loci %N 7 %1 http://www.ncbi.nlm.nih.gov/pubmed/28553957?dopt=Abstract %R 10.1038/ng.3875