Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
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Authors
Aung, TinOzaki, Mineo
Lee, Mei Chin
Schlötzer-Schrehardt, Ursula
Thorleifsson, Gudmar
Mizoguchi, Takanori
Igo, Robert P
Haripriya, Aravind
Williams, Susan E
Astakhov, Yury S
Orr, Andrew C
Burdon, Kathryn P
Nakano, Satoko
Mori, Kazuhiko
Abu-Amero, Khaled
Hauser, Michael
Li, Zheng
Prakadeeswari, Gopalakrishnan
Bailey, Jessica N Cooke
Cherecheanu, Alina Popa
Kang, Jae H
Nelson, Sarah
Hayashi, Ken
Manabe, Shin-Ichi
Kazama, Shigeyasu
Zarnowski, Tomasz
Inoue, Kenji
Irkec, Murat
Coca-Prados, Miguel
Sugiyama, Kazuhisa
Järvelä, Irma
Schlottmann, Patricio
Lerner, S Fabian
Lamari, Hasnaa
Nilgün, Yildirim
Bikbov, Mukharram
Park, Ki Ho
Cha, Soon Cheol
Yamashiro, Kenji
Zenteno, Juan C
Jonas, Jost B
Kumar, Rajesh S
Perera, Shamira A
Chan, Anita S Y
Kobakhidze, Nino
George, Ronnie
Vijaya, Lingam
Do, Tan
Edward, Deepak P
de Juan Marcos, Lourdes
Pakravan, Mohammad
Moghimi, Sasan
Ideta, Ryuichi
Bach-Holm, Daniella
Kappelgaard, Per
Wirostko, Barbara
Thomas, Samuel
Gaston, Daniel
Bedard, Karen
Greer, Wenda L
Yang, Zhenglin
Chen, Xueyi
Huang, Lulin
Sang, Jinghong
Jia, Hongyan
Jia, Liyun
Qiao, Chunyan
Zhang, Hui
Liu, Xuyang
Zhao, Bowen
Wang, Ya-Xing
Xu, Liang
Leruez, Stéphanie
Reynier, Pascal
Chichua, George
Tabagari, Sergo
Uebe, Steffen
Zenkel, Matthias
Berner, Daniel
Mossböck, Georg
Weisschuh, Nicole
Hoja, Ursula
Welge-Luessen, Ulrich-Christoph
Mardin, Christian
Founti, Panayiota
Chatzikyriakidou, Anthi
Pappas, Theofanis
Anastasopoulos, Eleftherios
Lambropoulos, Alexandros
Ghosh, Arkasubhra
Shetty, Rohit
Porporato, Natalia
Saravanan, Vijayan
Venkatesh, Rengaraj
Shivkumar, Chandrashekaran
Kalpana, Narendran
Sarangapani, Sripriya
Kanavi, Mozhgan R
Beni, Afsaneh Naderi
Yazdani, Shahin
Lashay, Alireza
Naderifar, Homa
Khatibi, Nassim
Fea, Antonio
Lavia, Carlo
Dallorto, Laura
Rolle, Teresa
Frezzotti, Paolo
Paoli, Daniela
Salvi, Erika
Manunta, Paolo
Mori, Yosai
Miyata, Kazunori
Higashide, Tomomi
Chihara, Etsuo
Ishiko, Satoshi
Yoshida, Akitoshi
Yanagi, Masahide
Kiuchi, Yoshiaki
Ohashi, Tsutomu
Sakurai, Toshiya
Sugimoto, Takako
Chuman, Hideki
Aihara, Makoto
Inatani, Masaru
Miyake, Masahiro
Gotoh, Norimoto
Matsuda, Fumihiko
Yoshimura, Nagahisa
Ikeda, Yoko
Ueno, Morio
Sotozono, Chie
Jeoung, Jin Wook
Sagong, Min
Park, Kyu Hyung
Ahn, Jeeyun
Cruz-Aguilar, Marisa
Ezzouhairi, Sidi M
Rafei, Abderrahman
Chong, Yaan Fun
Ng, Xiao Yu
Goh, Shuang Ru
Chen, Yueming
Yong, Victor H K
Khan, Muhammad Imran
Olawoye, Olusola O
Ashaye, Adeyinka O
Ugbede, Idakwo
Onakoya, Adeola
Kizor-Akaraiwe, Nkiru
Teekhasaenee, Chaiwat
Suwan, Yanin
Supakontanasan, Wasu
Okeke, Suhanya
Uche, Nkechi J
Asimadu, Ifeoma
Ayub, Humaira
Akhtar, Farah
Kosior-Jarecka, Ewa
Lukasik, Urszula
Lischinsky, Ignacio
Castro, Vania
Grossmann, Rodolfo Perez
Megevand, Gordana Sunaric
Roy, Sylvain
Dervan, Edward
Silke, Eoin
Rao, Aparna
Sahay, Priti
Fornero, Pablo
Cuello, Osvaldo
Sivori, Delia
Zompa, Tamara
Mills, Richard A
Souzeau, Emmanuelle
Mitchell, Paul
Wang, Jie Jin
Hewitt, Alex W
Coote, Michael
Crowston, Jonathan G
Astakhov, Sergei Y
Akopov, Eugeny L
Emelyanov, Anton
Vysochinskaya, Vera
Kazakbaeva, Gyulli
Fayzrakhmanov, Rinat
Al-Obeidan, Saleh A
Owaidhah, Ohoud
Aljasim, Leyla Ali
Chowbay, Balram
Foo, Jia Nee
Soh, Raphael Q
Sim, Kar Seng
Xie, Zhicheng
Cheong, Augustine W O
Mok, Shi Qi
Soo, Hui Meng
Chen, Xiao Yin
Peh, Su Qin
Heng, Khai Koon
Husain, Rahat
Ho, Su-Ling
Hillmer, Axel M
Cheng, Ching-Yu
Escudero-Domínguez, Francisco A
González-Sarmiento, Rogelio
Martinon-Torres, Frederico
Salas, Antonio
Pathanapitoon, Kessara
Hansapinyo, Linda
Wanichwecharugruang, Boonsong
Kitnarong, Naris
Sakuntabhai, Anavaj
Nguyn, Hip X
Nguyn, Giang T T
Nguyn, Trình V
Zenz, Werner
Binder, Alexander
Klobassa, Daniela S
Hibberd, Martin L
Davila, Sonia
Herms, Stefan
Nöthen, Markus M
Moebus, Susanne
Rautenbach, Robyn M
Ziskind, Ari
Carmichael, Trevor R
Ramsay, Michele
Álvarez, Lydia
García, Montserrat
González-Iglesias, Héctor
Rodríguez-Calvo, Pedro P
Cueto, Luis Fernández-Vega
Oguz, Çilingir
Tamcelik, Nevbahar
Atalay, Eray
Batu, Bilge
Aktas, Dilek
Kasım, Burcu
Wilson, M Roy
Coleman, Anne L
Liu, Yutao
Challa, Pratap
Herndon, Leon
Kuchtey, Rachel W
Kuchtey, John
Curtin, Karen
Chaya, Craig J
Crandall, Alan
Zangwill, Linda M
Wong, Tien Yin
Nakano, Masakazu
Kinoshita, Shigeru
den Hollander, Anneke I
Vesti, Eija
Fingert, John H
Lee, Richard K
Sit, Arthur J
Shingleton, Bradford J
Wang, Ningli
Cusi, Daniele
Qamar, Raheel
Kraft, Peter
Pericak-Vance, Margaret A
Raychaudhuri, Soumya
Heegaard, Steffen
Kivelä, Tero
Reis, André
Kruse, Friedrich E
Weinreb, Robert N
Pasquale, Louis R
Haines, Jonathan L
Thorsteinsdottir, Unnur
Jonasson, Fridbert
Allingham, R Rand
Milea, Dan
Ritch, Robert
Kubota, Toshiaki
Tashiro, Kei
Vithana, Eranga N
Micheal, Shazia
Topouzis, Fotis
Craig, Jamie E
Dubina, Michael
Sundaresan, Periasamy
Stefansson, Kari
Wiggs, Janey L
Pasutto, Francesca
Khor, Chiea Chuen
Issue Date
2017-07
Metadata
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 2017, 49 (7):993-1004 Nat. Genet.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.Description
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https://www.nature.com/ng/journal/v49/n7/pdf/ng.3875.pdfRights
Archived with thanks to Nature geneticsae974a485f413a2113503eed53cd6c53
10.1038/ng.3875
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