Aung Tin, Ozaki Mineo, Mizoguchi Takanori, Allingham R Rand, Li Zheng, Haripriya Aravind, Nakano Satoko, Uebe Steffen, Harder Jeffrey M, Chan Anita S Y, Lee Mei Chin, Burdon Kathryn P, Astakhov Yury S, Abu-Amero Khaled K, Zenteno Juan C, Nilgün Yildirim, Zarnowski Tomasz, Pakravan Mohammad, Safieh Leen Abu, Jia Liyun, Wang Ya Xing, Williams Susan, Paoli Daniela, Schlottmann Patricio G, Huang Lulin, Sim Kar Seng, Foo Jia Nee, Nakano Masakazu, Ikeda Yoko, Kumar Rajesh S, Ueno Morio, Manabe Shin-ichi, Hayashi Ken, Kazama Shigeyasu, Ideta Ryuichi, Mori Yosai, Miyata Kazunori, Sugiyama Kazuhisa, Higashide Tomomi, Chihara Etsuo, Inoue Kenji, Ishiko Satoshi, Yoshida Akitoshi, Yanagi Masahide, Kiuchi Yoshiaki, Aihara Makoto, Ohashi Tsutomu, Sakurai Toshiya, Sugimoto Takako, Chuman Hideki, Matsuda Fumihiko, Yamashiro Kenji, Gotoh Norimoto, Miyake Masahiro, Astakhov Sergei Y, Osman Essam A, Al-Obeidan Saleh A, Owaidhah Ohoud, Al-Jasim Leyla, Al Shahwan Sami, Fogarty Rhys A, Leo Paul, Yetkin Yaz, Oğuz Çilingir, Kanavi Mozhgan Rezaei, Beni Afsaneh Nederi, Yazdani Shahin, Akopov Evgeny L, Toh Kai-Yee, Howell Gareth R, Orr Andrew C, Goh Yufen, Meah Wee Yang, Peh Su Qin, Kosior-Jarecka Ewa, Lukasik Urszula, Krumbiegel Mandy, Vithana Eranga N, Wong Tien Yin, Liu Yutao, Koch Allison E Ashley, Challa Pratap, Rautenbach Robyn M, Mackey David A, Hewitt Alex W, Mitchell Paul, Wang Jie Jin, Ziskind Ari, Carmichael Trevor, Ramakrishnan Rangappa, Narendran Kalpana, Venkatesh Rangaraj, Vijayan Saravanan, Zhao Peiquan, Chen Xueyi, Guadarrama-Vallejo Dalia, Cheng Ching Yu, Perera Shamira A, Husain Rahat, Ho Su-Ling, Welge-Luessen Ulrich-Christoph, Mardin Christian, Schloetzer-Schrehardt Ursula, Hillmer Axel M, Herms Stefan, Moebus Susanne, Nöthen Markus M, Weisschuh Nicole, Shetty Rohit, Ghosh Arkasubhra, Teo Yik Ying, Brown Matthew A, Lischinsky Ignacio, Crowston Jonathan G, Coote Michael, Zhao Bowen, Sang Jinghong, Zhang Nihong, You Qisheng, Vysochinskaya Vera, Founti Panayiota, Chatzikyriakidou Anthoula, Lambropoulos Alexandros, Anastasopoulos Eleftherios, Coleman Anne L, Wilson M Roy, Rhee Douglas J, Kang Jae Hee, May-Bolchakova Inna, Heegaard Steffen, Mori Kazuhiko, Alward Wallace L M, Jonas Jost B, Xu Liang, Liebmann Jeffrey M, Chowbay Balram, Schaeffeler Elke, Schwab Matthias, Lerner Fabian, Wang Ningli, Yang Zhenglin, Frezzotti Paolo, Kinoshita Shigeru, Fingert John H, Inatani Masaru, Tashiro Kei, Reis André, Edward Deepak P, Pasquale Louis R, Kubota Toshiaki, Wiggs Janey L, Pasutto Francesca, Topouzis Fotis, Dubina Michael, Craig Jamie E, Yoshimura Nagahisa, Sundaresan Periasamy, John Simon W M, Ritch Robert, Hauser Michael A, Khor Chiea-Chuen
1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore. [3] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [4] Division of Human Genetics, Genome Institute of Singapore, Singapore. [5] Duke University-National University of Singapore Graduate Medical School, Singapore.
1] Ozaki Eye Hospital, Hyuga, Japan. [2] Hayashi Eye Hospital, Fukuoka, Japan.
Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23.
Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
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