Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population
Masakazu Nakano,Yoko Ikeda,Yuichi Tokuda,Masahiro Fuwa,Morio Ueno,Kojiro Imai,Ryuichi Sato,Natsue Omi,Hiroko Adachi,Masaaki Kageyama,Kazuhiko Mori,Shigeru Kinoshita,Kei Tashiro +12 more
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The results suggested that the combination of newly discovered variants in these genes might be useful for precise XFG risk assessment, as well as for elucidating the molecular mechanism of XFG pathogenesis through XFS.Abstract:
The common variants in lysyl oxidase-like 1 gene (LOXL1) are associated with exfoliation glaucoma (XFG) patients developed through exfoliation syndrome (XFS) However, the risk allele of a variant in LOXL1 has been found to be inverted between Asian and Caucasian populations Therefore, we newly performed a genome-wide association study using 201 XFS/XFG and 697 controls in Japanese, and identified 34 genome-wide significant single-nucleotide polymorphisms (SNPs) distributing in not only LOXL1 but also TBC1D21 and PML at the 15q241 locus These SNPs were confirmed by an independent population consisted of 121 XFS/XFG and 263 controls in Japanese Moreover, further analyses revealed a unique haplotype structure only from the combination of TBC1D21 and LOXL1 variants showing a high XFS/XFG susceptibility specific for the Asian population Although there still should be other gene(s) in the other region(s) contributing to the disease process, these results suggested that the combination of newly discovered variants in these genes might be useful for precise XFG risk assessment, as well as for elucidating the molecular mechanism of XFG pathogenesis through XFSread more
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Tin Aung,Tin Aung,Mineo Ozaki,Mei Chin Lee,Ursula Schlötzer-Schrehardt,Gudmar Thorleifsson,Takanori Mizoguchi,Robert P. Igo,Aravind Haripriya,Susan Williams,Yury S. Astakhov,Andrew C. Orr,Kathryn P. Burdon,Kathryn P. Burdon,Satoko Nakano,Kazuhiko Mori,Khaled K. Abu-Amero,Khaled K. Abu-Amero,Michael A. Hauser,Zheng Li,Gopalakrishnan Prakadeeswari,Jessica N. Cooke Bailey,Alina Popa Cherecheanu,Jae H. Kang,Sarah C. Nelson,Ken Hayashi,Shin-ichi Manabe,Shigeyasu Kazama,Tomasz Zarnowski,Kenji Inoue,Murat Irkec,Miguel Coca-Prados,Miguel Coca-Prados,Kazuhisa Sugiyama,Irma Järvelä,Patricio G. Schlottmann,S Fabian Lerner,Hasnaa Lamari,Yildirim Nilgün,Mukharram M. Bikbov,Ki Ho Park,Soon Cheol Cha,Kenji Yamashiro,Juan Carlos Zenteno,Jost B. Jonas,Jost B. Jonas,Rajesh Kumar,Shamira A. Perera,Anita S Y Chan,Anita S Y Chan,Nino Kobakhidze,Ronnie George,Lingam Vijaya,Tan Do,Deepak P. Edward,Lourdes de Juan Marcos,Mohammad Pakravan,Sasan Moghimi,Ryuichi Ideta,Daniella Bach-Holm,Per Kappelgaard,Barbara M Wirostko,Scott Thomas,Daniel Gaston,Karen Bedard,Wenda L. Greer,Zhenglin Yang,Xueyi Chen,Lulin Huang,Lulin Huang,Jinghong Sang,Hongyan Jia,Liyun Jia,Chunyan Qiao,Hui Zhang,Xuyang Liu,Bowen Zhao,Ya Xing Wang,Liang Xu,Stéphanie Leruez,Pascal Reynier,George Chichua,Sergo Tabagari,Steffen Uebe,Matthias Zenkel,Daniel Berner,Georg Mossböck,Nicole Weisschuh,Ursula Hoja,Ulrich-Christoph Welge-Luessen,Christian Y. Mardin,Panayiota Founti,Anthi Chatzikyriakidou,Theofanis Pappas,Eleftherios Anastasopoulos,Alexandros Lambropoulos,Arkasubhra Ghosh,Rohit Shetty,Natalia Porporato,Vijayan Saravanan,Rengaraj Venkatesh,Chandrashekaran Shivkumar,N Kalpana,Sripriya Sarangapani,Mozhgan Rezaei Kanavi,Afsaneh Naderi Beni,Shahin Yazdani,Alireza Lashay,Homa Naderifar,Nassim Khatibi,Antonio Maria Fea,Carlo Lavia,Laura Dallorto,Teresa Rolle,Paolo Frezzotti,Daniela Paoli,Erika Salvi,Paolo Manunta,Yosai Mori,Kazunori Miyata,Tomomi Higashide,Etsuo Chihara,Satoshi Ishiko,Akitoshi Yoshida,Masahide Yanagi,Yoshiaki Kiuchi,Tsutomu Ohashi,Toshiya Sakurai,Takako Sugimoto,Hideki Chuman,Makoto Aihara,Masaru Inatani,Masahiro Miyake,Norimoto Gotoh,Fumihiko Matsuda,Nagahisa Yoshimura,Yoko Ikeda,Morio Ueno,Chie Sotozono,Jin Wook Jeoung,Min Sagong,Kyu Hyung Park,Jeeyun Ahn,Marisa Cruz-Aguilar,Sidi M Ezzouhairi,Abderrahman Rafei,Yaan Fun Chong,Xiao Yu Ng,Shuang Ru Goh,Yueming Chen,Victor H. K. Yong,Muhammad Imran Khan,Olusola Olawoye,Olusola Olawoye,Adeyinka O. Ashaye,Adeyinka O. Ashaye,Idakwo Ugbede,Adeola O Onakoya,Adeola O Onakoya,Nkiru Kizor-Akaraiwe,Chaiwat Teekhasaenee,Yanin Suwan,Wasu Supakontanasan,Suhanya Okeke,Nkechi J Uche,Ifeoma N. Asimadu,Humaira Ayub,Farah Akhtar,Ewa Kosior-Jarecka,Urszula Lukasik,Ignacio Lischinsky,Vania Castro,Rodolfo Perez Grossmann,Gordana Sunaric Megevand,Sylvain Roy,Edward Dervan,Eoin Silke,Aparna Rao,Priti Sahay,Pablo Fornero,Osvaldo Cuello,Delia Sivori,Tamara Zompa,Richard A. Mills,Emmanuelle Souzeau,Paul Mitchell,Jie Jin Wang,Alex W. Hewitt,Alex W. Hewitt,Michael Coote,Jonathan G Crowston,Sergei Y. Astakhov,Eugeny L. Akopov,A. Emelyanov,A. Emelyanov,Vera Vysochinskaya,Gyulli M. Kazakbaeva,R.R. Fayzrakhmanov,Saleh A. Al-Obeidan,Ohoud Owaidhah,Leyla Al-Jasim,Balram Chowbay,Balram Chowbay,Jia Nee Foo,Jia Nee Foo,Raphael Q Soh,Kar Seng Sim,Z. Xie,Augustine W O Cheong,Shi Qi Mok,Hui Meng Soo,Xiao Yin Chen,Su Qin Peh,Khai Koon Heng,Rahat Husain,Su-Ling Ho,Axel M. Hillmer,Ching-Yu Cheng,Francisco A. Escudero-Domínguez,Rogelio González-Sarmiento,Frederico Martinon-Torres,Antonio Salas,Kessara Pathanapitoon,Linda Hansapinyo,Boonsong Wanichwecharugruang,Naris Kitnarong,Anavaj Sakuntabhai,Anavaj Sakuntabhai,Hip X Nguyn,Giang T T Nguyn,Trình V Nguyn,Werner Zenz,A. Binder,DS Klobassa,Martin L. Hibberd,Martin L. Hibberd,Sonia Davila,Stefan Herms,Stefan Herms,Stefan Herms,Markus M. Nöthen,Susanne Moebus,Robyn M. Rautenbach,Ari Ziskind,Trevor R. Carmichael,Michèle Ramsay,Lydia Álvarez,Montserrat García,Héctor González-Iglesias,Pedro Pablo Rodríguez-Calvo,Luis Fernández-Vega Cueto,Çilingir Oguz,Nevbahar Tamçelik,Eray Atalay,Bilge Batu,Dilek Aktas,Burcu Kasım,M. Roy Wilson,Anne L. Coleman,Yutao Liu,Pratap Challa,Leon W. Herndon,Rachel W. Kuchtey,John Kuchtey,Karen Curtin,Craig J. Chaya,Alan S. Crandall,Linda M. Zangwill,Tien Yin Wong,Tien Yin Wong,Masakazu Nakano,Shigeru Kinoshita,Anneke I. den Hollander,Eija Vesti,John H. Fingert,John H. Fingert,Richard K. Lee,Arthur J. Sit,Bradford J. Shingleton,Ningli Wang,Daniele Cusi,Raheel Qamar,Raheel Qamar,Peter Kraft,Margaret A. Pericak-Vance,Soumya Raychaudhuri,Steffen Heegaard,Tero Kivelä,André Reis,Friedrich E. Kruse,Robert N. Weinreb,Louis R. Pasquale,Louis R. Pasquale,Jonathan L. Haines,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Fridbert Jonasson,R. Rand Allingham,Dan Milea,Dan Milea,Robert Ritch,Toshiaki Kubota,Kei Tashiro,Eranga N. Vithana,Shazia Micheal,Fotis Topouzis,Jamie E Craig,Michael V. Dubina,Michael V. Dubina,Periasamy Sundaresan,Kari Stefansson,Kari Stefansson,Janey L. Wiggs,Francesca Pasutto,Chiea Chuen Khor,Chiea Chuen Khor +315 more
TL;DR: A rare protective allele at LOXL1 is identified through deep resequencing of XFS cases and controls and a potential role for naturally occurring rare LO XL1 variants in disease biology is highlighted.
Journal ArticleDOI
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology
TL;DR: Current knowledge of XFS pathogenesis is summarized, gaps in knowledge are identified, and areas for future research are discussed.
Journal ArticleDOI
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
Tin Aung,Tin Aung,Tin Aung,Mineo Ozaki,Takanori Mizoguchi,R. Rand Allingham,Zheng Li,Aravind Haripriya,Satoko Nakano,Steffen Uebe,Jeffrey M. Harder,Anita S Y Chan,Mei Chin Lee,Kathryn P. Burdon,Kathryn P. Burdon,Yury S. Astakhov,Khaled K. Abu-Amero,Khaled K. Abu-Amero,Juan Carlos Zenteno,Yildirim Nilgün,Tomasz Zarnowski,Mohammad Pakravan,Leen Abu Safieh,Liyun Jia,Ya Xing Wang,Susan Williams,Daniela Paoli,Patricio G. Schlottmann,Lulin Huang,Lulin Huang,Kar Seng Sim,Jia Nee Foo,Masakazu Nakano,Yoko Ikeda,Rajesh Kumar,Morio Ueno,Shin Ichi Manabe,Ken Hayashi,Shigeyasu Kazama,Ryuichi Ideta,Yosai Mori,Kazunori Miyata,Kazuhisa Sugiyama,Tomomi Higashide,Etsuo Chihara,Kenji Inoue,Satoshi Ishiko,Akitoshi Yoshida,Masahide Yanagi,Yoshiaki Kiuchi,Makoto Aihara,Tsutomu Ohashi,Toshiya Sakurai,Takako Sugimoto,Hideki Chuman,Fumihiko Matsuda,Kenji Yamashiro,Norimoto Gotoh,Masahiro Miyake,Sergei Y. Astakhov,Essam A. Osman,Saleh A. Al-Obeidan,Ohoud Owaidhah,Leyla Al-Jasim,Sami Al Shahwan,Rhys A. Fogarty,Rhys A. Fogarty,Paul Leo,Yaz Yetkin,Çilingir Ouz,Mozhgan Rezaei Kanavi,Afsaneh Nederi Beni,Shahin Yazdani,Evgeny L. Akopov,Kai Yee Toh,Kai Yee Toh,Kai Yee Toh,Gareth R. Howell,Andrew C. Orr,Yufen Goh,Wee Yang Meah,Su Qin Peh,Ewa Kosior-Jarecka,Urszula Lukasik,Mandy Krumbiegel,Eranga N. Vithana,Tien Yin Wong,Yutao Liu,Allison E. Ashley Koch,Pratap Challa,Robyn M. Rautenbach,David A. Mackey,Alex W. Hewitt,Alex W. Hewitt,Paul Mitchell,Jie Jin Wang,Jie Jin Wang,Jie Jin Wang,Ari Ziskind,Trevor R. Carmichael,Trevor R. Carmichael,Rangappa Ramakrishnan,Kalpana Narendran,Rangaraj Venkatesh,Rangaraj Venkatesh,Saravanan Vijayan,Saravanan Vijayan,Peiquan Zhao,Xueyi Chen,Dalia Guadarrama-Vallejo,Ching-Yu Cheng,Shamira A. Perera,Shamira A. Perera,Rahat Husain,Su Ling Ho,Ulrich Christoph Welge-Luessen,Christian Y. Mardin,Christian Y. Mardin,Christian Y. Mardin,Ursula Schloetzer-Schrehardt,Axel M. Hillmer,Stefan Herms,Susanne Moebus,Markus M. Nöthen,Nicole Weisschuh,Rohit Shetty,Arkasubhra Ghosh,Yik Ying Teo,Matthew A. Brown,Ignacio Lischinsky,Jonathan G Crowston,Michael Coote,Bowen Zhao,Jinghong Sang,Nihong Zhang,Qisheng You,Vera Vysochinskaya,Panayiota Founti,Anthoula Chatzikyriakidou,Alexandros Lambropoulos,E. Anastasopoulos,E. Anastasopoulos,E. Anastasopoulos,Anne L. Coleman,M. Roy Wilson,Douglas J Rhee,Jae H. Kang,Inna May-Bolchakova,Steffen Heegaard,Kazuhiko Mori,Wallace L.M. Alward,Jost B. Jonas,Liang Xu,Jeffrey M. Liebmann,Balram Chowbay,Elke Schaeffeler,Matthias Schwab,Fabian Lerner,Ningli Wang,Zhenglin Yang,Paolo Frezzotti,Shigeru Kinoshita,John H. Fingert,Masaru Inatani,Kei Tashiro,André Reis,Deepak P. Edward,Louis R. Pasquale,Toshiaki Kubota,Janey L. Wiggs,Francesca Pasutto,Fotis Topouzis,Michael V. Dubina,Jamie E Craig,Nagahisa Yoshimura,Periasamy Sundaresan,Simon W. M. John,Robert Ritch,Michael A. Hauser,Chiea Chuen Khor,Chiea Chuen Khor,Chiea Chuen Khor +181 more
TL;DR: In this paper, the authors 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.
Journal ArticleDOI
Multi-Omics Approach for Studying Tears in Treatment-Naïve Glaucoma Patients
Claudia Rossi,Ilaria Cicalini,Maria Concetta Cufaro,Luca Agnifili,Leonardo Mastropasqua,Paola Lanuti,Marco Marchisio,Vincenzo De Laurenzi,Piero Del Boccio,Damiana Pieragostino +9 more
TL;DR: It is concluded that POAG patients had lower levels of certain tear amino acids and lysophospholipids compared with controls, and POAG tear proteins seemed to derive from extracellular vesicles, which carried a specific pro-inflammatory protein cargo.
Journal ArticleDOI
Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations
Ryan Zukerman,Alon Harris,Alice Chandra Verticchio Vercellin,Brent Siesky,Louis R. Pasquale,Thomas A. Ciulla +5 more
TL;DR: In this article, the authors synthesize the current literature on glaucoma and genetics, as stratified by the subtypes and ethnicity of primary open-angle (POAG) and exfoliation (XFG), and conclude that the unified molecular pathways accounting for POAG pathogenesis remain uncertain, although inflammation and senescence likely play an important role.
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