@article {1078711,
	title = {Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci},
	journal = {Nat Genet},
	year = {2017},
	month = {2017 May 29},
	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 {\texttimes} 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 \&lt; 5 {\texttimes} 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.},
	issn = {1546-1718},
	doi = {10.1038/ng.3875},
	author = {Aung, Tin and Ozaki, Mineo and Lee, Mei Chin and Schl{\"o}tzer-Schrehardt, Ursula and Thorleifsson, Gudmar and Mizoguchi, Takanori and Igo, Robert P and Haripriya, Aravind and Williams, Susan E and Astakhov, Yury S and Orr, Andrew C and Burdon, Kathryn P and Nakano, Satoko and Mori, Kazuhiko and Abu-Amero, Khaled and Hauser, Michael and Li, Zheng and Prakadeeswari, Gopalakrishnan and Bailey, Jessica N Cooke and Cherecheanu, Alina Popa and Kang, Jae H and Nelson, Sarah and Hayashi, Ken and Manabe, Shin-Ichi and Kazama, Shigeyasu and Zarnowski, Tomasz and Inoue, Kenji and Irkec, Murat and Coca-Prados, Miguel and Sugiyama, Kazuhisa and J{\"a}rvel{\"a}, Irma and Schlottmann, Patricio and Lerner, S Fabian and Lamari, Hasnaa and Nilg{\"u}n, Yildirim and Bikbov, Mukharram and Park, Ki Ho and Cha, Soon Cheol and Yamashiro, Kenji and Zenteno, Juan C and Jonas, Jost B and Kumar, Rajesh S and Perera, Shamira A and Chan, Anita S Y and Kobakhidze, Nino and George, Ronnie and Vijaya, Lingam and Do, Tan and Edward, Deepak P and de Juan Marcos, Lourdes and Pakravan, Mohammad and Moghimi, Sasan and Ideta, Ryuichi and Bach-Holm, Daniella and Kappelgaard, Per and Wirostko, Barbara and Thomas, Samuel and Gaston, Daniel and Bedard, Karen and Greer, Wenda L and Yang, Zhenglin and Chen, Xueyi and Huang, Lulin and Sang, Jinghong and Jia, Hongyan and Jia, Liyun and Qiao, Chunyan and Zhang, Hui and Liu, Xuyang and Zhao, Bowen and Wang, Ya-Xing and Xu, Liang and Leruez, St{\'e}phanie and Reynier, Pascal and Chichua, George and Tabagari, Sergo and Uebe, Steffen and Zenkel, Matthias and Berner, Daniel and Mossb{\"o}ck, Georg and Weisschuh, Nicole and Hoja, Ursula and Welge-Luessen, Ulrich-Christoph and Mardin, Christian and Founti, Panayiota and Chatzikyriakidou, Anthi and Pappas, Theofanis and Anastasopoulos, Eleftherios and Lambropoulos, Alexandros and Ghosh, Arkasubhra and Shetty, Rohit and Porporato, Natalia and Saravanan, Vijayan and Venkatesh, Rengaraj and Shivkumar, Chandrashekaran and Kalpana, Narendran and Sarangapani, Sripriya and Kanavi, Mozhgan R and Beni, Afsaneh Naderi and Yazdani, Shahin and Lashay, Alireza and Naderifar, Homa and Khatibi, Nassim and Fea, Antonio and Lavia, Carlo and Dallorto, Laura and Rolle, Teresa and Frezzotti, Paolo and Paoli, Daniela and Salvi, Erika and Manunta, Paolo and Mori, Yosai and Miyata, Kazunori and Higashide, Tomomi and Chihara, Etsuo and Ishiko, Satoshi and Yoshida, Akitoshi and Yanagi, Masahide and Kiuchi, Yoshiaki and Ohashi, Tsutomu and Sakurai, Toshiya and Sugimoto, Takako and Chuman, Hideki and Aihara, Makoto and Inatani, Masaru and Miyake, Masahiro and Gotoh, Norimoto and Matsuda, Fumihiko and Yoshimura, Nagahisa and Ikeda, Yoko and Ueno, Morio and Sotozono, Chie and Jeoung, Jin Wook and Sagong, Min and Park, Kyu Hyung and Ahn, Jeeyun and Cruz-Aguilar, Marisa and Ezzouhairi, Sidi M and Rafei, Abderrahman and Chong, Yaan Fun and Ng, Xiao Yu and Goh, Shuang Ru and Chen, Yueming and Yong, Victor H K and Khan, Muhammad Imran and Olawoye, Olusola O and Ashaye, Adeyinka O and Ugbede, Idakwo and Onakoya, Adeola and Kizor-Akaraiwe, Nkiru and Teekhasaenee, Chaiwat and Suwan, Yanin and Supakontanasan, Wasu and Okeke, Suhanya and Uche, Nkechi J and Asimadu, Ifeoma and Ayub, Humaira and Akhtar, Farah and Kosior-Jarecka, Ewa and Lukasik, Urszula and Lischinsky, Ignacio and Castro, Vania and Grossmann, Rodolfo Perez and Megevand, Gordana Sunaric and Roy, Sylvain and Dervan, Edward and Silke, Eoin and Rao, Aparna and Sahay, Priti and Fornero, Pablo and Cuello, Osvaldo and Sivori, Delia and Zompa, Tamara and Mills, Richard A and Souzeau, Emmanuelle and Mitchell, Paul and Wang, Jie Jin and Hewitt, Alex W and Coote, Michael and Crowston, Jonathan G and Astakhov, Sergei Y and Akopov, Eugeny L and Emelyanov, Anton and Vysochinskaya, Vera and Kazakbaeva, Gyulli and Fayzrakhmanov, Rinat and Al-Obeidan, Saleh A and Owaidhah, Ohoud and Aljasim, Leyla Ali and Chowbay, Balram and Foo, Jia Nee and Soh, Raphael Q and Sim, Kar Seng and Xie, Zhicheng and Cheong, Augustine W O and Mok, Shi Qi and Soo, Hui Meng and Chen, Xiao Yin and Peh, Su Qin and Heng, Khai Koon and Husain, Rahat and Ho, Su-Ling and Hillmer, Axel M and Cheng, Ching-Yu and Escudero-Dom{\'\i}nguez, Francisco A and Gonz{\'a}lez-Sarmiento, Rogelio and Martinon-Torres, Frederico and Salas, Antonio and Pathanapitoon, Kessara and Hansapinyo, Linda and Wanichwecharugruang, Boonsong and Kitnarong, Naris and Sakuntabhai, Anavaj and Nguyn, Hip X and Nguyn, Giang T T and Nguyn, Tr{\`\i}nh V and Zenz, Werner and Binder, Alexander and Klobassa, Daniela S and Hibberd, Martin L and Davila, Sonia and Herms, Stefan and N{\"o}then, Markus M and Moebus, Susanne and Rautenbach, Robyn M and Ziskind, Ari and Carmichael, Trevor R and Ramsay, Michele and {\'A}lvarez, Lydia and Garc{\'\i}a, Montserrat and Gonz{\'a}lez-Iglesias, H{\'e}ctor and Rodr{\'\i}guez-Calvo, Pedro P and Cueto, Luis Fern{\'a}ndez-Vega and Oguz, {\c C}ilingir and Tamcelik, Nevbahar and Atalay, Eray and Batu, Bilge and Aktas, Dilek and Kas{\i}m, Burcu and Wilson, M Roy and Coleman, Anne L and Liu, Yutao and Challa, Pratap and Herndon, Leon and Kuchtey, Rachel W and Kuchtey, John and Curtin, Karen and Chaya, Craig J and Crandall, Alan and Zangwill, Linda M and Wong, Tien Yin and Nakano, Masakazu and Kinoshita, Shigeru and den Hollander, Anneke I and Vesti, Eija and Fingert, John H and Lee, Richard K and Sit, Arthur J and Shingleton, Bradford J and Wang, Ningli and Cusi, Daniele and Qamar, Raheel and Kraft, Peter and Pericak-Vance, Margaret A and Raychaudhuri, Soumya and Heegaard, Steffen and Kivel{\"a}, Tero and Reis, Andr{\'e} and Kruse, Friedrich E and Weinreb, Robert N and Pasquale, Louis R and Haines, Jonathan L and Thorsteinsdottir, Unnur and Jonasson, Fridbert and Allingham, R Rand and Milea, Dan and Ritch, Robert and Kubota, Toshiaki and Tashiro, Kei and Vithana, Eranga N and Micheal, Shazia and Topouzis, Fotis and Craig, Jamie E and Dubina, Michael and Sundaresan, Periasamy and Stefansson, Kari and Wiggs, Janey L and Pasutto, Francesca and Khor, Chiea Chuen}
}
