Standard
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. / Aung, Tin; Ozaki, Mineo; Mizoguchi, Takanori; Allingham, R. Rand; Li, Zheng; Haripriya, Aravind; Nakano, Satoko; Uebe, Steffen; Harder, Jeffrey M.; Chan, Anita S. Y.; Lee, Mei Chin; Burdon, Kathryn P.; Astakhov, Yury S.; Abu-Amero, Khaled K.; Zenteno, Juan C.; Nilguen, Yildirim; Zarnowski, Tomasz; Pakravan, Mohammad; Abu Safieh, Leen; Jia, Liyun; Wang, Ya Xing; Williams, Susan; Paoli, Daniela; Schlottmann, Patricio G.; Huang, Lulin; Sim, Kar Seng; Foo, Jia Nee; Nakano, Masakazu; Ikeda, Yoko; Kumar, Rajesh S.; Ueno, Morio; Manabe, Shin-Ichi; Hayashi, Ken; Kazama, Shigeyasu; Ideta, Ryuichi; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Inoue, Kenji; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Aihara, Makoto; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Matsuda, Fumihiko; Yamashiro, Kenji; Gotoh, Norimoto; Miyake, Masahiro; Astakhov, Sergei Y.; Osman, Essam A.; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Al-Jasim, Leyla; Al Shahwan, Sami; Fogarty, Rhys A.; Leo, Paul; Yetkin, Yaz; Oguz, Cilingir; Kanavi, Mozhgan Rezaei; Beni, Afsaneh Nederi; Yazdani, Shahin; Akopov, Evgeny L.; Toh, Kai-Yee; Howell, Gareth R.; Orr, Andrew C.; Goh, Yufen; Meah, Wee Yang; Peh, Su Qin; Kosior-Jarecka, Ewa; Lukasik, Urszula; Krumbiegel, Mandy; Vithana, Eranga N.; Wong, Tien Yin; Liu, Yutao; Koch, Allison E. Ashley; Challa, Pratap; Rautenbach, Robyn M.; Mackey, David A.; Hewitt, Alex W.; Mitchell, Paul; Wang, Jie Jin; Ziskind, Ari; Carmichael, Trevor; Ramakrishnan, Rangappa; Narendran, Kalpana; Venkatesh, Rangaraj; Vijayan, Saravanan; Zhao, Peiquan; Chen, Xueyi; Guadarrama-Vallejo, Dalia; Cheng, Ching Yu; Perera, Shamira A.; Husain, Rahat; Ho, Su-Ling; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Schloetzer-Schrehardt, Ursula; Hillmer, Axel M.; Herms, Stefan; Moebus, Susanne; Noethen, Markus M.; Weisschuh, Nicole; Shetty, Rohit; Ghosh, Arkasubhra; Teo, Yik Ying; Brown, Matthew A.; Lischinsky, Ignacio; Crowston, Jonathan G.; Coote, Michael; Zhao, Bowen; Sang, Jinghong; Zhang, Nihong; You, Qisheng; Vysochinskaya, Vera; Founti, Panayiota; Chatzikyriakidou, Anthoula; Lambropoulos, Alexandros; Anastasopoulos, Eleftherios; Coleman, Anne L.; Wilson, M. Roy; Rhee, Douglas J.; Kang, Jae Hee; May-Bolchakova, Inna; Heegaard, Steffen; Mori, Kazuhiko; Alward, Wallace L. M.; Jonas, Jost B.; Xu, Liang; Liebmann, Jeffrey M.; Chowbay, Balram; Schaeffeler, Elke; Schwab, Matthias; Lerner, Fabian; Wang, Ningli; Yang, Zhenglin; Frezzotti, Paolo; Kinoshita, Shigeru; Fingert, John H.; Inatani, Masaru; Tashiro, Kei; Reis, Andre; Edward, Deepak P.; Pasquale, Louis R.; Kubota, Toshiaki; Wiggs, Janey L.; Pasutto, Francesca; Topouzis, Fotis; Dubina, Michael; Craig, Jamie E.; Yoshimura, Nagahisa; Sundaresan, Periasamy; John, Simon W. M.; Ritch, Robert; Hauser, Michael A.; Khor, Chiea-Chuen.
In:
Nature Genetics, Vol. 47, No. 4, 04.2015, p. 387-392.
Research output: Contribution to journal › Letter › Research › peer-review
Harvard
Aung, T, Ozaki, M, Mizoguchi, T, Allingham, RR, Li, Z, Haripriya, A, Nakano, S, Uebe, S, Harder, JM, Chan, ASY, Lee, MC, Burdon, KP, Astakhov, YS, Abu-Amero, KK, Zenteno, JC, Nilguen, Y, Zarnowski, T, Pakravan, M, Abu Safieh, L, Jia, L, Wang, YX, Williams, S, Paoli, D, Schlottmann, PG, Huang, L, Sim, KS, Foo, JN, Nakano, M, Ikeda, Y, Kumar, RS, 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, SY, Osman, EA, Al-Obeidan, SA, Owaidhah, O, Al-Jasim, L, Al Shahwan, S, Fogarty, RA, Leo, P, Yetkin, Y, Oguz, C, Kanavi, MR, Beni, AN, Yazdani, S, Akopov, EL, Toh, K-Y, Howell, GR, Orr, AC, Goh, Y, Meah, WY, Peh, SQ, Kosior-Jarecka, E, Lukasik, U, Krumbiegel, M, Vithana, EN, Wong, TY, Liu, Y, Koch, AEA, Challa, P, Rautenbach, RM, Mackey, DA, Hewitt, AW, Mitchell, P, Wang, JJ, Ziskind, A, Carmichael, T, Ramakrishnan, R, Narendran, K, Venkatesh, R, Vijayan, S, Zhao, P, Chen, X, Guadarrama-Vallejo, D, Cheng, CY, Perera, SA, Husain, R, Ho, S-L, Welge-Luessen, U-C, Mardin, C, Schloetzer-Schrehardt, U, Hillmer, AM, Herms, S, Moebus, S, Noethen, MM, Weisschuh, N, Shetty, R, Ghosh, A, Teo, YY, Brown, MA, Lischinsky, I, Crowston, JG, Coote, M, Zhao, B, Sang, J, Zhang, N, You, Q, Vysochinskaya, V, Founti, P, Chatzikyriakidou, A, Lambropoulos, A, Anastasopoulos, E, Coleman, AL, Wilson, MR, Rhee, DJ, Kang, JH, May-Bolchakova, I
, Heegaard, S, Mori, K, Alward, WLM, Jonas, JB, Xu, L, Liebmann, JM, Chowbay, B, Schaeffeler, E, Schwab, M, Lerner, F, Wang, N, Yang, Z, Frezzotti, P, Kinoshita, S, Fingert, JH, Inatani, M, Tashiro, K, Reis, A, Edward, DP, Pasquale, LR, Kubota, T, Wiggs, JL, Pasutto, F, Topouzis, F, Dubina, M, Craig, JE, Yoshimura, N, Sundaresan, P, John, SWM, Ritch, R, Hauser, MA & Khor, C-C 2015, '
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome',
Nature Genetics, vol. 47, no. 4, pp. 387-392.
https://doi.org/10.1038/ng.3226APA
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., ... Khor, C-C. (2015).
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Nature Genetics,
47(4), 387-392.
https://doi.org/10.1038/ng.3226Vancouver
Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A et al.
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Nature Genetics. 2015 Apr;47(4):387-392.
https://doi.org/10.1038/ng.3226Author
Aung, Tin ; Ozaki, Mineo ; Mizoguchi, Takanori ; Allingham, R. Rand ; Li, Zheng ; Haripriya, Aravind ; Nakano, Satoko ; Uebe, Steffen ; Harder, Jeffrey M. ; Chan, Anita S. Y. ; Lee, Mei Chin ; Burdon, Kathryn P. ; Astakhov, Yury S. ; Abu-Amero, Khaled K. ; Zenteno, Juan C. ; Nilguen, Yildirim ; Zarnowski, Tomasz ; Pakravan, Mohammad ; Abu Safieh, Leen ; Jia, Liyun ; Wang, Ya Xing ; Williams, Susan ; Paoli, Daniela ; Schlottmann, Patricio G. ; Huang, Lulin ; Sim, Kar Seng ; Foo, Jia Nee ; Nakano, Masakazu ; Ikeda, Yoko ; Kumar, Rajesh S. ; Ueno, Morio ; Manabe, Shin-Ichi ; Hayashi, Ken ; Kazama, Shigeyasu ; Ideta, Ryuichi ; Mori, Yosai ; Miyata, Kazunori ; Sugiyama, Kazuhisa ; Higashide, Tomomi ; Chihara, Etsuo ; Inoue, Kenji ; Ishiko, Satoshi ; Yoshida, Akitoshi ; Yanagi, Masahide ; Kiuchi, Yoshiaki ; Aihara, Makoto ; Ohashi, Tsutomu ; Sakurai, Toshiya ; Sugimoto, Takako ; Chuman, Hideki ; Matsuda, Fumihiko ; Yamashiro, Kenji ; Gotoh, Norimoto ; Miyake, Masahiro ; Astakhov, Sergei Y. ; Osman, Essam A. ; Al-Obeidan, Saleh A. ; Owaidhah, Ohoud ; Al-Jasim, Leyla ; Al Shahwan, Sami ; Fogarty, Rhys A. ; Leo, Paul ; Yetkin, Yaz ; Oguz, Cilingir ; Kanavi, Mozhgan Rezaei ; Beni, Afsaneh Nederi ; Yazdani, Shahin ; Akopov, Evgeny L. ; Toh, Kai-Yee ; Howell, Gareth R. ; Orr, Andrew C. ; Goh, Yufen ; Meah, Wee Yang ; Peh, Su Qin ; Kosior-Jarecka, Ewa ; Lukasik, Urszula ; Krumbiegel, Mandy ; Vithana, Eranga N. ; Wong, Tien Yin ; Liu, Yutao ; Koch, Allison E. Ashley ; Challa, Pratap ; Rautenbach, Robyn M. ; Mackey, David A. ; Hewitt, Alex W. ; Mitchell, Paul ; Wang, Jie Jin ; Ziskind, Ari ; Carmichael, Trevor ; Ramakrishnan, Rangappa ; Narendran, Kalpana ; Venkatesh, Rangaraj ; Vijayan, Saravanan ; Zhao, Peiquan ; Chen, Xueyi ; Guadarrama-Vallejo, Dalia ; Cheng, Ching Yu ; Perera, Shamira A. ; Husain, Rahat ; Ho, Su-Ling ; Welge-Luessen, Ulrich-Christoph ; Mardin, Christian ; Schloetzer-Schrehardt, Ursula ; Hillmer, Axel M. ; Herms, Stefan ; Moebus, Susanne ; Noethen, Markus M. ; Weisschuh, Nicole ; Shetty, Rohit ; Ghosh, Arkasubhra ; Teo, Yik Ying ; Brown, Matthew A. ; Lischinsky, Ignacio ; Crowston, Jonathan G. ; Coote, Michael ; Zhao, Bowen ; Sang, Jinghong ; Zhang, Nihong ; You, Qisheng ; Vysochinskaya, Vera ; Founti, Panayiota ; Chatzikyriakidou, Anthoula ; Lambropoulos, Alexandros ; Anastasopoulos, Eleftherios ; Coleman, Anne L. ; Wilson, M. Roy ; Rhee, Douglas J. ; Kang, Jae Hee ; May-Bolchakova, Inna ; Heegaard, Steffen ; Mori, Kazuhiko ; Alward, Wallace L. M. ; Jonas, Jost B. ; Xu, Liang ; Liebmann, Jeffrey M. ; Chowbay, Balram ; Schaeffeler, Elke ; Schwab, Matthias ; Lerner, Fabian ; Wang, Ningli ; Yang, Zhenglin ; Frezzotti, Paolo ; Kinoshita, Shigeru ; Fingert, John H. ; Inatani, Masaru ; Tashiro, Kei ; Reis, Andre ; Edward, Deepak P. ; Pasquale, Louis R. ; Kubota, Toshiaki ; Wiggs, Janey L. ; Pasutto, Francesca ; Topouzis, Fotis ; Dubina, Michael ; Craig, Jamie E. ; Yoshimura, Nagahisa ; Sundaresan, Periasamy ; John, Simon W. M. ; Ritch, Robert ; Hauser, Michael A. ; Khor, Chiea-Chuen. / A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. In: Nature Genetics. 2015 ; Vol. 47, No. 4. pp. 387-392.
Bibtex
@article{ccf9cdd7a1df4683bcb63b52b60882e4,
title = "A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome",
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.",
author = "Tin Aung and Mineo Ozaki and Takanori Mizoguchi and Allingham, {R. Rand} and Zheng Li and Aravind Haripriya and Satoko Nakano and Steffen Uebe and Harder, {Jeffrey M.} and Chan, {Anita S. Y.} and Lee, {Mei Chin} and Burdon, {Kathryn P.} and Astakhov, {Yury S.} and Abu-Amero, {Khaled K.} and Zenteno, {Juan C.} and Yildirim Nilguen and Tomasz Zarnowski and Mohammad Pakravan and {Abu Safieh}, Leen and Liyun Jia and Wang, {Ya Xing} and Susan Williams and Daniela Paoli and Schlottmann, {Patricio G.} and Lulin Huang and Sim, {Kar Seng} and Foo, {Jia Nee} and Masakazu Nakano and Yoko Ikeda and Kumar, {Rajesh S.} and Morio Ueno and Shin-Ichi Manabe and Ken Hayashi and Shigeyasu Kazama and Ryuichi Ideta and Yosai Mori and Kazunori Miyata and Kazuhisa Sugiyama and Tomomi Higashide and Etsuo Chihara and Kenji Inoue and Satoshi Ishiko and Akitoshi Yoshida and Masahide Yanagi and Yoshiaki Kiuchi and Makoto Aihara and Tsutomu Ohashi and Toshiya Sakurai and Takako Sugimoto and Hideki Chuman and Fumihiko Matsuda and Kenji Yamashiro and Norimoto Gotoh and Masahiro Miyake and Astakhov, {Sergei Y.} and Osman, {Essam A.} and Al-Obeidan, {Saleh A.} and Ohoud Owaidhah and Leyla Al-Jasim and {Al Shahwan}, Sami and Fogarty, {Rhys A.} and Paul Leo and Yaz Yetkin and Cilingir Oguz and Kanavi, {Mozhgan Rezaei} and Beni, {Afsaneh Nederi} and Shahin Yazdani and Akopov, {Evgeny L.} and Kai-Yee Toh and Howell, {Gareth R.} and Orr, {Andrew C.} and Yufen Goh and Meah, {Wee Yang} and Peh, {Su Qin} and Ewa Kosior-Jarecka and Urszula Lukasik and Mandy Krumbiegel and Vithana, {Eranga N.} and Wong, {Tien Yin} and Yutao Liu and Koch, {Allison E. Ashley} and Pratap Challa and Rautenbach, {Robyn M.} and Mackey, {David A.} and Hewitt, {Alex W.} and Paul Mitchell and Wang, {Jie Jin} and Ari Ziskind and Trevor Carmichael and Rangappa Ramakrishnan and Kalpana Narendran and Rangaraj Venkatesh and Saravanan Vijayan and Peiquan Zhao and Xueyi Chen and Dalia Guadarrama-Vallejo and Cheng, {Ching Yu} and Perera, {Shamira A.} and Rahat Husain and Su-Ling Ho and Ulrich-Christoph Welge-Luessen and Christian Mardin and Ursula Schloetzer-Schrehardt and Hillmer, {Axel M.} and Stefan Herms and Susanne Moebus and Noethen, {Markus M.} and Nicole Weisschuh and Rohit Shetty and Arkasubhra Ghosh and Teo, {Yik Ying} and Brown, {Matthew A.} and Ignacio Lischinsky and Crowston, {Jonathan G.} and Michael Coote and Bowen Zhao and Jinghong Sang and Nihong Zhang and Qisheng You and Vera Vysochinskaya and Panayiota Founti and Anthoula Chatzikyriakidou and Alexandros Lambropoulos and Eleftherios Anastasopoulos and Coleman, {Anne L.} and Wilson, {M. Roy} and Rhee, {Douglas J.} and Kang, {Jae Hee} and Inna May-Bolchakova and Steffen Heegaard and Kazuhiko Mori and Alward, {Wallace L. M.} and Jonas, {Jost B.} and Liang Xu and Liebmann, {Jeffrey M.} and Balram Chowbay and Elke Schaeffeler and Matthias Schwab and Fabian Lerner and Ningli Wang and Zhenglin Yang and Paolo Frezzotti and Shigeru Kinoshita and Fingert, {John H.} and Masaru Inatani and Kei Tashiro and Andre Reis and Edward, {Deepak P.} and Pasquale, {Louis R.} and Toshiaki Kubota and Wiggs, {Janey L.} and Francesca Pasutto and Fotis Topouzis and Michael Dubina and Craig, {Jamie E.} and Nagahisa Yoshimura and Periasamy Sundaresan and John, {Simon W. M.} and Robert Ritch and Hauser, {Michael A.} and Chiea-Chuen Khor",
year = "2015",
month = apr,
doi = "10.1038/ng.3226",
language = "English",
volume = "47",
pages = "387--392",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "4",
}
RIS
TY - JOUR
T1 - A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
AU - Aung, Tin
AU - Ozaki, Mineo
AU - Mizoguchi, Takanori
AU - Allingham, R. Rand
AU - Li, Zheng
AU - Haripriya, Aravind
AU - Nakano, Satoko
AU - Uebe, Steffen
AU - Harder, Jeffrey M.
AU - Chan, Anita S. Y.
AU - Lee, Mei Chin
AU - Burdon, Kathryn P.
AU - Astakhov, Yury S.
AU - Abu-Amero, Khaled K.
AU - Zenteno, Juan C.
AU - Nilguen, Yildirim
AU - Zarnowski, Tomasz
AU - Pakravan, Mohammad
AU - Abu Safieh, Leen
AU - Jia, Liyun
AU - Wang, Ya Xing
AU - Williams, Susan
AU - Paoli, Daniela
AU - Schlottmann, Patricio G.
AU - Huang, Lulin
AU - Sim, Kar Seng
AU - Foo, Jia Nee
AU - Nakano, Masakazu
AU - Ikeda, Yoko
AU - Kumar, Rajesh S.
AU - Ueno, Morio
AU - Manabe, Shin-Ichi
AU - Hayashi, Ken
AU - Kazama, Shigeyasu
AU - Ideta, Ryuichi
AU - Mori, Yosai
AU - Miyata, Kazunori
AU - Sugiyama, Kazuhisa
AU - Higashide, Tomomi
AU - Chihara, Etsuo
AU - Inoue, Kenji
AU - Ishiko, Satoshi
AU - Yoshida, Akitoshi
AU - Yanagi, Masahide
AU - Kiuchi, Yoshiaki
AU - Aihara, Makoto
AU - Ohashi, Tsutomu
AU - Sakurai, Toshiya
AU - Sugimoto, Takako
AU - Chuman, Hideki
AU - Matsuda, Fumihiko
AU - Yamashiro, Kenji
AU - Gotoh, Norimoto
AU - Miyake, Masahiro
AU - Astakhov, Sergei Y.
AU - Osman, Essam A.
AU - Al-Obeidan, Saleh A.
AU - Owaidhah, Ohoud
AU - Al-Jasim, Leyla
AU - Al Shahwan, Sami
AU - Fogarty, Rhys A.
AU - Leo, Paul
AU - Yetkin, Yaz
AU - Oguz, Cilingir
AU - Kanavi, Mozhgan Rezaei
AU - Beni, Afsaneh Nederi
AU - Yazdani, Shahin
AU - Akopov, Evgeny L.
AU - Toh, Kai-Yee
AU - Howell, Gareth R.
AU - Orr, Andrew C.
AU - Goh, Yufen
AU - Meah, Wee Yang
AU - Peh, Su Qin
AU - Kosior-Jarecka, Ewa
AU - Lukasik, Urszula
AU - Krumbiegel, Mandy
AU - Vithana, Eranga N.
AU - Wong, Tien Yin
AU - Liu, Yutao
AU - Koch, Allison E. Ashley
AU - Challa, Pratap
AU - Rautenbach, Robyn M.
AU - Mackey, David A.
AU - Hewitt, Alex W.
AU - Mitchell, Paul
AU - Wang, Jie Jin
AU - Ziskind, Ari
AU - Carmichael, Trevor
AU - Ramakrishnan, Rangappa
AU - Narendran, Kalpana
AU - Venkatesh, Rangaraj
AU - Vijayan, Saravanan
AU - Zhao, Peiquan
AU - Chen, Xueyi
AU - Guadarrama-Vallejo, Dalia
AU - Cheng, Ching Yu
AU - Perera, Shamira A.
AU - Husain, Rahat
AU - Ho, Su-Ling
AU - Welge-Luessen, Ulrich-Christoph
AU - Mardin, Christian
AU - Schloetzer-Schrehardt, Ursula
AU - Hillmer, Axel M.
AU - Herms, Stefan
AU - Moebus, Susanne
AU - Noethen, Markus M.
AU - Weisschuh, Nicole
AU - Shetty, Rohit
AU - Ghosh, Arkasubhra
AU - Teo, Yik Ying
AU - Brown, Matthew A.
AU - Lischinsky, Ignacio
AU - Crowston, Jonathan G.
AU - Coote, Michael
AU - Zhao, Bowen
AU - Sang, Jinghong
AU - Zhang, Nihong
AU - You, Qisheng
AU - Vysochinskaya, Vera
AU - Founti, Panayiota
AU - Chatzikyriakidou, Anthoula
AU - Lambropoulos, Alexandros
AU - Anastasopoulos, Eleftherios
AU - Coleman, Anne L.
AU - Wilson, M. Roy
AU - Rhee, Douglas J.
AU - Kang, Jae Hee
AU - May-Bolchakova, Inna
AU - Heegaard, Steffen
AU - Mori, Kazuhiko
AU - Alward, Wallace L. M.
AU - Jonas, Jost B.
AU - Xu, Liang
AU - Liebmann, Jeffrey M.
AU - Chowbay, Balram
AU - Schaeffeler, Elke
AU - Schwab, Matthias
AU - Lerner, Fabian
AU - Wang, Ningli
AU - Yang, Zhenglin
AU - Frezzotti, Paolo
AU - Kinoshita, Shigeru
AU - Fingert, John H.
AU - Inatani, Masaru
AU - Tashiro, Kei
AU - Reis, Andre
AU - Edward, Deepak P.
AU - Pasquale, Louis R.
AU - Kubota, Toshiaki
AU - Wiggs, Janey L.
AU - Pasutto, Francesca
AU - Topouzis, Fotis
AU - Dubina, Michael
AU - Craig, Jamie E.
AU - Yoshimura, Nagahisa
AU - Sundaresan, Periasamy
AU - John, Simon W. M.
AU - Ritch, Robert
AU - Hauser, Michael A.
AU - Khor, Chiea-Chuen
PY - 2015/4
Y1 - 2015/4
N2 - 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.
AB - 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.
U2 - 10.1038/ng.3226
DO - 10.1038/ng.3226
M3 - Letter
C2 - 25706626
VL - 47
SP - 387
EP - 392
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -
