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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

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dc.contributor.author Aung, Tin
dc.contributor.author Ozaki, Mineo
dc.contributor.author Lee, Mei Chin
dc.contributor.author Schlotzer-Schrehardt, Ursula
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author Mizoguchi, Takanori
dc.contributor.author Igo, Robert P. Jr
dc.contributor.author Haripriya, Aravind
dc.contributor.author Williams, Susan E.
dc.contributor.author Astakhov, Yury S.
dc.contributor.author Orr, Andrew C.
dc.contributor.author Burdon, Kathryn P.
dc.contributor.author Nakano, Satoko
dc.contributor.author Mori, Kazuhiko
dc.contributor.author Abu-Amero, Khaled
dc.contributor.author Hauser, Michael
dc.contributor.author Li, Zheng
dc.contributor.author Prakadeeswari, Gopalakrishnan
dc.contributor.author Bailey, Jessica N. Cooke
dc.contributor.author Cherecheanu, Alina Popa
dc.contributor.author Kang, Jae H.
dc.contributor.author Nelson, Sarah
dc.contributor.author Hayashi, Ken
dc.contributor.author Manabe, Shin-Ichi
dc.contributor.author Kazama, Shigeyasu
dc.contributor.author Zarnowski, Tomasz
dc.contributor.author Inoue, Kenji
dc.contributor.author Irkec, Murat
dc.contributor.author Coca-Prados, Miguel
dc.contributor.author Sugiyama, Kazuhisa
dc.contributor.author Jarvela, Irma
dc.contributor.author Schlottmann, Patricio
dc.contributor.author Lerner, S. Fabian
dc.contributor.author Lamari, Hasnaa
dc.contributor.author Nilgun, Yildirim
dc.contributor.author Bikbov, Mukharram
dc.contributor.author Park, Ki Ho
dc.contributor.author Cha, Soon Cheol
dc.contributor.author Yamashiro, Kenji
dc.contributor.author Zenteno, Juan C.
dc.contributor.author Jonas, Jost B.
dc.contributor.author Kumar, Rajesh S.
dc.contributor.author Perera, Shamira A.
dc.contributor.author Chan, Anita S. Y.
dc.contributor.author Kobakhidze, Nino
dc.contributor.author George, Ronnie
dc.contributor.author Vijaya, Lingam
dc.contributor.author Do, Tan
dc.contributor.author Edward, Deepak P.
dc.contributor.author de Juan Marcos, Lourdes
dc.contributor.author Pakravan, Mohammad
dc.contributor.author Moghimi, Sasan
dc.contributor.author Ideta, Ryuichi
dc.contributor.author Bach-Holm, Daniella
dc.contributor.author Kappelgaard, Per
dc.contributor.author Wirostko, Barbara
dc.contributor.author Thomas, Samuel
dc.contributor.author Gaston, Daniel
dc.contributor.author Bedard, Karen
dc.contributor.author Greer, Wenda L.
dc.contributor.author Yang, Zhenglin
dc.contributor.author Chen, Xueyi
dc.contributor.author Huang, Lulin
dc.contributor.author Sang, Jinghong
dc.contributor.author Jia, Hongyan
dc.contributor.author Jia, Liyun
dc.contributor.author Qiao, Chunyan
dc.contributor.author Zhang, Hui
dc.contributor.author Liu, Xuyang
dc.contributor.author Zhao, Bowen
dc.contributor.author Wang, Ya-Xing
dc.contributor.author Xu, Liang
dc.contributor.author Leruez, Stephanie
dc.contributor.author Reynier, Pascal
dc.contributor.author Chichua, George
dc.contributor.author Tabagari, Sergo
dc.contributor.author Uebe, Steffen
dc.contributor.author Zenkel, Matthias
dc.contributor.author Berner, Daniel
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dc.contributor.author Weisschuh, Nicole
dc.contributor.author Hoja, Ursula
dc.contributor.author Welge-Luessen, Ulrich-Christoph
dc.contributor.author Mardin, Christian
dc.contributor.author Founti, Panayiota
dc.contributor.author Chatzikyriakidou, Anthi
dc.contributor.author Pappas, Theofanis
dc.contributor.author Anastasopoulos, Eleftherios
dc.contributor.author Lambropoulos, Alexandros
dc.contributor.author Ghosh, Arkasubhra
dc.contributor.author Shetty, Rohit
dc.contributor.author Porporato, Natalia
dc.contributor.author Saravanan, Vijayan
dc.contributor.author Venkatesh, Rengaraj
dc.contributor.author Shivkumar, Chandrashekaran
dc.contributor.author Kalpana, Narendran
dc.contributor.author Sarangapani, Sripriya
dc.contributor.author Kanavi, Mozhgan R.
dc.contributor.author Beni, Afsaneh Naderi
dc.contributor.author Yazdani, Shahin
dc.contributor.author Lashay, Alireza
dc.contributor.author Naderifar, Homa
dc.contributor.author Khatibi, Nassim
dc.contributor.author Fea, Antonio
dc.contributor.author Lavia, Carlo
dc.contributor.author Dallorto, Laura
dc.contributor.author Rolle, Teresa
dc.contributor.author Frezzotti, Paolo
dc.contributor.author Paoli, Daniela
dc.contributor.author Salvi, Erika
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dc.contributor.author Mori, Yosai
dc.contributor.author Miyata, Kazunori
dc.contributor.author Higashide, Tomomi
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dc.contributor.author Yanagi, Masahide
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dc.contributor.author Ohashi, Tsutomu
dc.contributor.author Sakurai, Toshiya
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dc.contributor.author Miyake, Masahiro
dc.contributor.author Gotoh, Norimoto
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dc.contributor.author Ikeda, Yoko
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dc.contributor.author Sagong, Min
dc.contributor.author Park, Kyu Hyung
dc.contributor.author Ahn, Jeeyun
dc.contributor.author Cruz-Aguilar, Marisa
dc.contributor.author Ezzouhairi, Sidi M.
dc.contributor.author Rafei, Abderrahman
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dc.contributor.author Chen, Yueming
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dc.contributor.author Olawoye, Olusola O.
dc.contributor.author Ashaye, Adeyinka O.
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dc.contributor.author Onakoya, Adeola
dc.contributor.author Kizor-Akaraiwe, Nkiru
dc.contributor.author Teekhasaenee, Chaiwat
dc.contributor.author Suwan, Yanin
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dc.contributor.author Okeke, Suhanya
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dc.contributor.author Ayub, Humaira
dc.contributor.author Akhtar, Farah
dc.contributor.author Kosior-Jarecka, Ewa
dc.contributor.author Lukasik, Urszula
dc.contributor.author Lischinsky, Ignacio
dc.contributor.author Castro, Vania
dc.contributor.author Grossmann, Rodolfo Perez
dc.contributor.author Sunaric Megevand, Gordana
dc.contributor.author Roy, Sylvain
dc.contributor.author Dervan, Edward
dc.contributor.author Silke, Eoin
dc.contributor.author Rao, Aparna
dc.contributor.author Sahay, Priti
dc.contributor.author Fornero, Pablo
dc.contributor.author Cuello, Osvaldo
dc.contributor.author Sivori, Delia
dc.contributor.author Zompa, Tamara
dc.contributor.author Mills, Richard A.
dc.contributor.author Souzeau, Emmanuelle
dc.contributor.author Mitchell, Paul
dc.contributor.author Wang, Jie Jin
dc.contributor.author Hewitt, Alex W.
dc.contributor.author Coote, Michael
dc.contributor.author Crowston, Jonathan G.
dc.contributor.author Astakhov, Sergei Y.
dc.contributor.author Akopov, Eugeny L.
dc.contributor.author Emelyanov, Anton
dc.contributor.author Vysochinskaya, Vera
dc.contributor.author Kazakbaeva, Gyulli
dc.contributor.author Fayzrakhmanov, Rinat
dc.contributor.author Al-Obeidan, Saleh A.
dc.contributor.author Owaidhah, Ohoud
dc.contributor.author Aljasim, Leyla Ali
dc.contributor.author Chowbay, Balram
dc.contributor.author Foo, Jia Nee
dc.contributor.author Soh, Raphael Q.
dc.contributor.author Sim, Kar Seng
dc.contributor.author Xie, Zhicheng
dc.contributor.author Cheong, Augustine W. O.
dc.contributor.author Mok, Shi Qi
dc.contributor.author Soo, Hui Meng
dc.contributor.author Chen, Xiao Yin
dc.contributor.author Peh, Su Qin
dc.contributor.author Heng, Khai Koon
dc.contributor.author Husain, Rahat
dc.contributor.author Ho, Su-Ling
dc.contributor.author Hillmer, Axel M.
dc.contributor.author Cheng, Ching-Yu
dc.contributor.author Escudero-Dominguez, Francisco A.
dc.contributor.author Gonzalez-Sarmiento, Rogelio
dc.contributor.author Martinon-Torres, Frederico
dc.contributor.author Salas, Antonio
dc.contributor.author Pathanapitoon, Kessara
dc.contributor.author Hansapinyo, Linda
dc.contributor.author Wanichwecharugruang, Boonsong
dc.contributor.author Kitnarong, Naris
dc.contributor.author Sakuntabhai, Anavaj
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dc.contributor.author Nguyn, Giang T. T.
dc.contributor.author Nguyn, Trinh V.
dc.contributor.author Zenz, Werner
dc.contributor.author Binder, Alexander
dc.contributor.author Klobassa, Daniela S.
dc.contributor.author Hibberd, Martin L.
dc.contributor.author Davila, Sonia
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dc.contributor.author Garcia, Montserrat
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dc.contributor.author Rodriguez-Calvo, Pedro P.
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dc.contributor.author Oguz, Cilingir
dc.contributor.author Tamcelik, Nevbahar
dc.contributor.author Atalay, Eray
dc.contributor.author Batu, Bilge
dc.contributor.author Aktas, Dilek
dc.contributor.author Kasim, Burcu
dc.contributor.author Wilson, M. Roy
dc.contributor.author Coleman, Anne L.
dc.contributor.author Liu, Yutao
dc.contributor.author Challa, Pratap
dc.contributor.author Herndon, Leon
dc.contributor.author Kuchtey, Rachel W.
dc.contributor.author Kuchtey, John
dc.contributor.author Curtin, Karen
dc.contributor.author Chaya, Craig J.
dc.contributor.author Crandall, Alan
dc.contributor.author Zangwill, Linda M.
dc.contributor.author Wong, Tien Yin
dc.contributor.author Nakano, Masakazu
dc.contributor.author Kinoshita, Shigeru
dc.contributor.author den Hollander, Anneke I.
dc.contributor.author Vesti, Eija
dc.contributor.author Fingert, John H.
dc.contributor.author Lee, Richard K.
dc.contributor.author Sit, Arthur J.
dc.contributor.author Shingleton, Bradford J.
dc.contributor.author Wang, Ningli
dc.contributor.author Cusi, Daniele
dc.contributor.author Qamar, Raheel
dc.contributor.author Kraft, Peter
dc.contributor.author Pericak-Vance, Margaret A.
dc.contributor.author Raychaudhuri, Soumya
dc.contributor.author Heegaard, Steffen
dc.contributor.author Kivela, Tero
dc.contributor.author Reis, Andre
dc.contributor.author Kruse, Friedrich E.
dc.contributor.author Weinreb, Robert N.
dc.contributor.author Pasquale, Louis R.
dc.contributor.author Haines, Jonathan L.
dc.contributor.author Thorsteinsdottir, Unnur
dc.contributor.author Jonasson, Fridbert
dc.contributor.author Allingham, R. Rand
dc.contributor.author Milea, Dan
dc.contributor.author Ritch, Robert
dc.contributor.author Kubota, Toshiaki
dc.contributor.author Tashiro, Kei
dc.contributor.author Vithana, Eranga N.
dc.contributor.author Micheal, Shazia
dc.contributor.author Topouzis, Fotis
dc.contributor.author Craig, Jamie E.
dc.contributor.author Dubina, Michael
dc.contributor.author Sundaresan, Periasamy
dc.contributor.author Stefansson, Kari
dc.contributor.author Wiggs, Janey L.
dc.contributor.author Pasutto, Francesca
dc.contributor.author Khor, Chiea Chuen
dc.date.accessioned 2019-01-25T15:18:35Z
dc.date.available 2019-01-25T15:18:35Z
dc.date.issued 2017
dc.identifier.uri http://doi.org/10.1038/ng.3875
dc.identifier.uri http://repositorio.upch.edu.pe/handle/upch/4663
dc.description.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 x 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 x 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.
dc.language.iso eng
dc.publisher Nature Research
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Female
dc.subject Humans
dc.subject Male
dc.subject Aged, 80 and over
dc.subject Alleles
dc.subject Haplotypes
dc.subject Genome-Wide Association Study
dc.subject Mutation, Missense
dc.subject Point Mutation
dc.subject Amino Acid Oxidoreductases/genetics/physiology
dc.subject Amino Acid Substitution
dc.subject Asian Continental Ancestry Group/genetics
dc.subject Calcium Channels/genetics
dc.subject Cell Adhesion
dc.subject Exfoliation Syndrome/ethnology/genetics
dc.subject Extracellular Matrix/metabolism
dc.subject Eye/metabolism
dc.subject Gene Expression Profiling
dc.subject Genetic Predisposition to Disease
dc.subject Molecular Chaperones/biosynthesis/genetics
dc.subject RNA, Messenger/biosynthesis
dc.subject Spheroids, Cellular
dc.title Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
dc.type info:eu-repo/semantics/article
dc.identifier.journal Nature Genetics


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