| Literature DB >> 28553957 |
Luis Fernández-Vega Cueto1,2, Tin Aung3,4,5, Mineo Ozaki6,7, Mei Chin Lee3,8, Ursula Schlötzer-Schrehardt9, Gudmar Thorleifsson10, Takanori Mizoguchi11, Robert P Igo12, Aravind Haripriya13, Susan E Williams14, Yury S Astakhov15, Andrew C Orr16,17, Kathryn P Burdon18,19, Satoko Nakano20, Kazuhiko Mori21, Khaled Abu-Amero22,23, Michael Hauser3,24,25, Zheng Li26, Gopalakrishnan Prakadeeswari27, Jessica N Cooke Bailey12, Alina Popa Cherecheanu28,29, Jae H Kang30, Sarah Nelson31, Ken Hayashi32, Shin-Ichi Manabe32, Shigeyasu Kazama33, Tomasz Zarnowski34, Kenji Inoue35, Murat Irkec36, Miguel Coca-Prados1,2,37, Kazuhisa Sugiyama38, Irma Järvelä39, Patricio Schlottmann40, S Fabian Lerner41, Hasnaa Lamari42, Yildirim Nilgün43, Mukharram Bikbov44, Ki Ho Park45, Soon Cheol Cha46, Kenji Yamashiro47,48, Juan C Zenteno49,50, Jost B Jonas51,52, Rajesh S Kumar53, Shamira A Perera3,4, Anita S Y Chan3,4,8, Nino Kobakhidze54, Ronnie George55, Lingam Vijaya55, Tan Do56, Deepak P Edward57,58, Lourdes de Juan Marcos59,60, Mohammad Pakravan61, Sasan Moghimi62, Ryuichi Ideta63, Daniella Bach-Holm64, Per Kappelgaard64, Barbara Wirostko65, Samuel Thomas65, Daniel Gaston17, Karen Bedard17, Wenda L Greer17, Zhenglin Yang66,67, Xueyi Chen68, Lulin Huang69,70, Jinghong Sang52, Hongyan Jia52, Liyun Jia52,71, Chunyan Qiao52, Hui Zhang52, Xuyang Liu72, Bowen Zhao52,71, Ya-Xing Wang71, Liang Xu52, Stéphanie Leruez73, Pascal Reynier74, George Chichua54, Sergo Tabagari75, Steffen Uebe76, Matthias Zenkel9, Daniel Berner9, Georg Mossböck77, Nicole Weisschuh78, Ursula Hoja9, Ulrich-Christoph Welge-Luessen9, Christian Mardin9, Panayiota Founti79, Anthi Chatzikyriakidou80, Theofanis Pappas79, Eleftherios Anastasopoulos79, Alexandros Lambropoulos80, Arkasubhra Ghosh81, Rohit Shetty53, Natalia Porporato82, Vijayan Saravanan27, Rengaraj Venkatesh83, Chandrashekaran Shivkumar84, Narendran Kalpana85, Sripriya Sarangapani86, Mozhgan R Kanavi87, Afsaneh Naderi Beni61, Shahin Yazdani61, Alireza Lashay62, Homa Naderifar62, Nassim Khatibi62, Antonio Fea88, Carlo Lavia88, Laura Dallorto88, Teresa Rolle88, Paolo Frezzotti89, Daniela Paoli90, Erika Salvi91, Paolo Manunta92, Yosai Mori93, Kazunori Miyata93, Tomomi Higashide38, Etsuo Chihara94, Satoshi Ishiko95, Akitoshi Yoshida96, Masahide Yanagi97, Yoshiaki Kiuchi97, Tsutomu Ohashi98, Toshiya Sakurai99, Takako Sugimoto7, Hideki Chuman7, Makoto Aihara100, Masaru Inatani101, Masahiro Miyake47, Norimoto Gotoh102, Fumihiko Matsuda102, Nagahisa Yoshimura47,103, Yoko Ikeda21, Morio Ueno21, Chie Sotozono21, Jin Wook Jeoung45, Min Sagong46, Kyu Hyung Park104, Jeeyun Ahn105, Marisa Cruz-Aguilar49, Sidi M Ezzouhairi42, Abderrahman Rafei106, Yaan Fun Chong3, Xiao Yu Ng3, Shuang Ru Goh3, Yueming Chen3, Victor H K Yong3, Muhammad Imran Khan107, Olusola O Olawoye108,109, Adeyinka O Ashaye108,109, Idakwo Ugbede110, Adeola Onakoya111,112, Nkiru Kizor-Akaraiwe113,114, Chaiwat Teekhasaenee115, Yanin Suwan115, Wasu Supakontanasan115, Suhanya Okeke113,114, Nkechi J Uche114,116,117, Ifeoma Asimadu113, Humaira Ayub118, Farah Akhtar119, Ewa Kosior-Jarecka34, Urszula Lukasik34, Ignacio Lischinsky120, Vania Castro121, Rodolfo Perez Grossmann122, Gordana Sunaric Megevand123, Sylvain Roy123, Edward Dervan124, Eoin Silke124, Aparna Rao125, Priti Sahay125, Pablo Fornero126, Osvaldo Cuello126, Delia Sivori41, Tamara Zompa127, Richard A Mills18, Emmanuelle Souzeau18, Paul Mitchell128, Jie Jin Wang128, Alex W Hewitt19,129, Michael Coote129, Jonathan G Crowston129, Sergei Y Astakhov15, Eugeny L Akopov15, Anton Emelyanov15,130, Vera Vysochinskaya130, Gyulli Kazakbaeva44, Rinat Fayzrakhmanov44, Saleh A Al-Obeidan22, Ohoud Owaidhah57, Leyla Ali Aljasim57, Balram Chowbay131,132,133, Jia Nee Foo26,134, Raphael Q Soh26, Kar Seng Sim26, Zhicheng Xie26, Augustine W O Cheong26, Shi Qi Mok26, Hui Meng Soo26, Xiao Yin Chen26, Su Qin Peh26, Khai Koon Heng26, Rahat Husain4, Su-Ling Ho135, Axel M Hillmer26, Ching-Yu Cheng3,4,5,8, Francisco A Escudero-Domínguez59, Rogelio González-Sarmiento60,136, Frederico Martinon-Torres137,138, Antonio Salas139,140, Kessara Pathanapitoon141, Linda Hansapinyo141, Boonsong Wanichwecharugruang142, Naris Kitnarong143, Anavaj Sakuntabhai144,145, Hip X Nguyn56, Giang T T Nguyn56, Trình V Nguyn56, Werner Zenz146, Alexander Binder146, Daniela S Klobassa146, Martin L Hibberd26,147, Sonia Davila26, Stefan Herms148,149,150, Markus M Nöthen148,151, Susanne Moebus152, Robyn M Rautenbach153, Ari Ziskind153, Trevor R Carmichael14, Michele Ramsay154, Lydia Álvarez1,2, Montserrat García1,2, Héctor González-Iglesias1,2, Pedro P Rodríguez-Calvo1,2, Çilingir Oguz155, Nevbahar Tamcelik156, Eray Atalay3,156, Bilge Batu156, Dilek Aktas157, Burcu Kasım36, M Roy Wilson158, Anne L Coleman159, Yutao Liu160, Pratap Challa24, Leon Herndon24, Rachel W Kuchtey161, John Kuchtey161, Karen Curtin65, Craig J Chaya65, Alan Crandall65, Linda M Zangwill162, Tien Yin Wong3,4,5, Masakazu Nakano163, Shigeru Kinoshita21,164, Anneke I den Hollander107,165, Eija Vesti166, John H Fingert167,168, Richard K Lee169, Arthur J Sit170, Bradford J Shingleton171, Ningli Wang52,71, Daniele Cusi172, Raheel Qamar173,174, Peter Kraft175, Margaret A Pericak-Vance176, Soumya Raychaudhuri177,178,179,180,181, Steffen Heegaard182,183, Tero Kivelä184, André Reis75, Friedrich E Kruse9, Robert N Weinreb162, Louis R Pasquale30,185, Jonathan L Haines12,186, Unnur Thorsteinsdottir10,187, Fridbert Jonasson187,188, R Rand Allingham3,24, Dan Milea3,4,8, Robert Ritch189, Toshiaki Kubota20, Kei Tashiro163, Eranga N Vithana3,5, Shazia Micheal165, Fotis Topouzis79, Jamie E Craig18, Michael Dubina15,130, Periasamy Sundaresan190, Kari Stefansson10,187, Janey L Wiggs185, Francesca Pasutto76, Chiea Chuen Khor3,26,191.
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 × 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.Entities:
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Year: 2017 PMID： 28553957 PMCID： PMC6685441 DOI： 10.1038/ng.3875
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330