A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

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; Yury S. Astakhov; Khaled K. Abu-Amero; Juan C. Zenteno; Yildirim Nilguen; Tomasz Zarnowski; Mohammad Pakravan; Leen Abu Safieh; Liyun Jia; Ya Xing Wang; Susan Williams; Daniela Paoli; Patricio G. Schlottmann; Lulin Huang; Kar Seng Sim; Jia Nee Foo; Masakazu Nakano; Yoko Ikeda; Rajesh S. 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; Paul Leo; Yaz Yetkin; Cilingir Oguz; Mozhgan Rezaei Kanavi; Afsaneh Nederi Beni; Shahin Yazdani; Evgeny L. Akopov; 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; Paul Mitchell; Jie Jin Wang; Ari Ziskind; Trevor Carmichael; Rangappa Ramakrishnan; Kalpana Narendran; Rangaraj Venkatesh; Saravanan Vijayan; Peiquan Zhao; Xueyi Chen; Dalia Guadarrama-Vallejo; Ching Yu Cheng; Shamira A. Perera; Rahat Husain; Su-Ling Ho; Ulrich-Christoph Welge-Luessen; Christian Mardin; Ursula Schloetzer-Schrehardt; Axel M. Hillmer; Stefan Herms; Susanne Moebus; Markus M. Noethen; 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; Eleftherios Anastasopoulos; Anne L. Coleman; M. Roy Wilson; Douglas J. Rhee; Jae Hee 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; Andre Reis; Deepak P. Edward; Louis R. Pasquale; Toshiaki Kubota; Janey L. Wiggs; Francesca Pasutto; Fotis Topouzis; Michael Dubina; Jamie E. Craig; Nagahisa Yoshimura; Periasamy Sundaresan; Simon W. M. John; Robert Ritch; Michael A. Hauser; Chiea-Chuen Khor

doi:10.1038/ng.3226

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

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, Yury S. Astakhov, Khaled K. Abu-Amero, Juan C. Zenteno, Yildirim Nilguen, Tomasz Zarnowski, Mohammad Pakravan, Leen Abu Safieh, Liyun JiaYa Xing Wang, Susan Williams, Daniela Paoli, Patricio G. Schlottmann, Lulin Huang, Kar Seng Sim, Jia Nee Foo, Masakazu Nakano, Yoko Ikeda, Rajesh S. 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, Paul Leo, Yaz Yetkin, Cilingir Oguz, Mozhgan Rezaei Kanavi, Afsaneh Nederi Beni, Shahin Yazdani, Evgeny L. Akopov, 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, Paul Mitchell, Jie Jin Wang, Ari Ziskind, Trevor Carmichael, Rangappa Ramakrishnan, Kalpana Narendran, Rangaraj Venkatesh, Saravanan Vijayan, Peiquan Zhao, Xueyi Chen, Dalia Guadarrama-Vallejo, Ching Yu Cheng, Shamira A. Perera, Rahat Husain, Su-Ling Ho, Ulrich-Christoph Welge-Luessen, Christian Mardin, Ursula Schloetzer-Schrehardt, Axel M. Hillmer, Stefan Herms, Susanne Moebus, Markus M. Noethen, 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, Eleftherios Anastasopoulos, Anne L. Coleman, M. Roy Wilson, Douglas J. Rhee, Jae Hee 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, Andre Reis, Deepak P. Edward, Louis R. Pasquale, Toshiaki Kubota, Janey L. Wiggs, Francesca Pasutto, Fotis Topouzis, Michael Dubina, Jamie E. Craig, Nagahisa Yoshimura, Periasamy Sundaresan, Simon W. M. John, Robert Ritch, Michael A. Hauser, Chiea-Chuen Khor

48 Citations (Scopus)

Original language	English
Journal	Nature Genetics
Volume	47
Issue number	4
Pages (from-to)	387-392
Number of pages	6
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.3226
Publication status	Published - 28 Apr 2015

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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.3226

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.3226

@article{ccf9cdd7a1df4683bcb63b52b60882e4,

title = "A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome",

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,

day = "28",

doi = "10.1038/ng.3226",

language = "English",

volume = "47",

pages = "387--392",

journal = "Nature: New biology",

issn = "1061-4036",

publisher = "nature publishing group",

number = "4",

}

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 - 2015/4/28

Y1 - 2015/4/28

U2 - 10.1038/ng.3226

DO - 10.1038/ng.3226

M3 - Letter

C2 - 25706626

SN - 1061-4036

VL - 47

SP - 387

EP - 392

JO - Nature: New biology

JF - Nature: New biology

IS - 4

ER -

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

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