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A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
- Source :
- Aung , T , Ozaki , M , Mizoguchi , T , Allingham , R R , Li , Z , Haripriya , A , Nakano , S , Uebe , S , Harder , J M , Chan , A S Y , Lee , M C , Burdon , K P , Astakhov , Y S , Abu-Amero , K K , Zenteno , J C , Nilguen , Y , Zarnowski , T , Pakravan , M , Abu Safieh , L , Jia , L , Wang , Y X , Williams , S , Paoli , D , Schlottmann , P G , Huang , L , Sim , K S , Foo , J N , Nakano , M , Ikeda , Y , Kumar , R S , Ueno , M , Manabe , S-I , Hayashi , K , Kazama , S , Ideta , R , Mori , Y , Miyata , K , Sugiyama , K , Higashide , T , Chihara , E , Inoue , K , Ishiko , S , Yoshida , A , Yanagi , M , Kiuchi , Y , Aihara , M , Ohashi , T , Sakurai , T , Sugimoto , T , Chuman , H , Matsuda , F , Yamashiro , K , Gotoh , N , Miyake , M , Astakhov , S Y , Osman , E A , Al-Obeidan , S A , Owaidhah , O , Al-Jasim , L , Al Shahwan , S , Fogarty , R A , Leo , P , Yetkin , Y , Oguz , C , Kanavi , M R , Beni , A N , Yazdani , S , Akopov , E L , Toh , K-Y , Howell , G R , Orr , A C , Goh , Y , Meah , W Y , Peh , S Q , Kosior-Jarecka , E , Lukasik , U , Krumbiegel , M , Vithana , E N , Wong , T Y , Liu , Y , Koch , A E A , Challa , P , Rautenbach , R M , Mackey , D A , Hewitt , A W , Mitchell , P , Wang , J J , Ziskind , A , Carmichael , T , Ramakrishnan , R , Narendran , K , Venkatesh , R , Vijayan , S , Zhao , P , Chen , X , Guadarrama-Vallejo , D , Cheng , C Y , Perera , S A , Husain , R , Ho , S-L , Welge-Luessen , U-C , Mardin , C , Schloetzer-Schrehardt , U , Hillmer , A M , Herms , S , Moebus , S , Noethen , M M , Weisschuh , N , Shetty , R , Ghosh , A , Teo , Y Y , Brown , M A , Lischinsky , I , Crowston , J G , Coote , M , Zhao , B , Sang , J , Zhang , N , You , Q , Vysochinskaya , V , Founti , P , Chatzikyriakidou , A , Lambropoulos , A , Anastasopoulos , E , Coleman , A L , Wilson , M R , Rhee , D J , Kang , J H , May-Bolchakova , I , Heegaard , S , Mori , K , Alward , W L M , Jonas , J B , Xu , L , Liebmann , J M , Chowbay , B , Schaeffeler , E , Schwab , M , Lerner ,
- Publication Year :
- 2015
-
Abstract
- 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: ORA allele = 9.87, P = 2.13 × 10−217; non-Japanese: ORA 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.
Details
- Database :
- OAIster
- Journal :
- Aung , T , Ozaki , M , Mizoguchi , T , Allingham , R R , Li , Z , Haripriya , A , Nakano , S , Uebe , S , Harder , J M , Chan , A S Y , Lee , M C , Burdon , K P , Astakhov , Y S , Abu-Amero , K K , Zenteno , J C , Nilguen , Y , Zarnowski , T , Pakravan , M , Abu Safieh , L , Jia , L , Wang , Y X , Williams , S , Paoli , D , Schlottmann , P G , Huang , L , Sim , K S , Foo , J N , Nakano , M , Ikeda , Y , Kumar , R S , Ueno , M , Manabe , S-I , Hayashi , K , Kazama , S , Ideta , R , Mori , Y , Miyata , K , Sugiyama , K , Higashide , T , Chihara , E , Inoue , K , Ishiko , S , Yoshida , A , Yanagi , M , Kiuchi , Y , Aihara , M , Ohashi , T , Sakurai , T , Sugimoto , T , Chuman , H , Matsuda , F , Yamashiro , K , Gotoh , N , Miyake , M , Astakhov , S Y , Osman , E A , Al-Obeidan , S A , Owaidhah , O , Al-Jasim , L , Al Shahwan , S , Fogarty , R A , Leo , P , Yetkin , Y , Oguz , C , Kanavi , M R , Beni , A N , Yazdani , S , Akopov , E L , Toh , K-Y , Howell , G R , Orr , A C , Goh , Y , Meah , W Y , Peh , S Q , Kosior-Jarecka , E , Lukasik , U , Krumbiegel , M , Vithana , E N , Wong , T Y , Liu , Y , Koch , A E A , Challa , P , Rautenbach , R M , Mackey , D A , Hewitt , A W , Mitchell , P , Wang , J J , Ziskind , A , Carmichael , T , Ramakrishnan , R , Narendran , K , Venkatesh , R , Vijayan , S , Zhao , P , Chen , X , Guadarrama-Vallejo , D , Cheng , C Y , Perera , S A , Husain , R , Ho , S-L , Welge-Luessen , U-C , Mardin , C , Schloetzer-Schrehardt , U , Hillmer , A M , Herms , S , Moebus , S , Noethen , M M , Weisschuh , N , Shetty , R , Ghosh , A , Teo , Y Y , Brown , M A , Lischinsky , I , Crowston , J G , Coote , M , Zhao , B , Sang , J , Zhang , N , You , Q , Vysochinskaya , V , Founti , P , Chatzikyriakidou , A , Lambropoulos , A , Anastasopoulos , E , Coleman , A L , Wilson , M R , Rhee , D J , Kang , J H , May-Bolchakova , I , Heegaard , S , Mori , K , Alward , W L M , Jonas , J B , Xu , L , Liebmann , J M , Chowbay , B , Schaeffeler , E , Schwab , M , Lerner ,
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1322674572
- Document Type :
- Electronic Resource