Standard
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. / Aung, Tin; Ozaki, Mineo; Lee, Mei Chin; Schlotzer-Schrehardt, Ursula; Thorleifsson, Gudmar; Mizoguchi, Takanori; Igo, Robert P., Jr.; Haripriya, Aravind; Williams, Susan E.; Astakhov, Yury S.; Orr, Andrew C.; Burdon, Kathryn P.; Nakano, Satoko; Mori, Kazuhiko; Abu-Amero, Khaled; Hauser, Michael; Li, Zheng; Prakadeeswari, Gopalakrishnan; Bailey, Jessica N. Cooke; Cherecheanu, Alina Popa; Kang, Jae H.; Nelson, Sarah; Hayashi, Ken; Manabe, Shin-ichi; Kazama, Shigeyasu; Zarnowski, Tomasz; Inoue, Kenji; Irkec, Murat; Coca-Prados, Miguel; Sugiyama, Kazuhisa; Jarvela, Irma; Schlottmann, Patricio; Lerner, S. Fabian; Lamari, Hasnaa; Nilgun, Yildirim; Bikbov, Mukharram; Park, Ki Ho; Cha, Soon Cheol; Yamashiro, Kenji; Zenteno, Juan C.; Jonas, Jost B.; Kumar, Rajesh S.; Perera, Shamira A.; Chan, Anita S. Y.; Kobakhidze, Nino; George, Ronnie; Vijaya, Lingam; Do, Tan; Edward, Deepak P.; de Juan Marcos, Lourdes; Pakravan, Mohammad; Moghimi, Sasan; Ideta, Ryuichi; Bach-Holm, Daniella; Kappelgaard, Per; Wirostko, Barbara; Thomas, Samuel; Gaston, Daniel; Bedard, Karen; Greer, Wenda L.; Yang, Zhenglin; Chen, Xueyi; Huang, Lulin; Sang, Jinghong; Jia, Hongyan; Jia, Liyun; Qiao, Chunyan; Zhang, Hui; Liu, Xuyang; Zhao, Bowen; Wang, Ya-Xing; Xu, Liang; Leruez, Stephanie; Reynier, Pascal; Chichua, George; Tabagari, Sergo; Uebe, Steffen; Zenkel, Matthias; Berner, Daniel; Mossboeck, Georg; Weisschuh, Nicole; Hoja, Ursula; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Founti, Panayiota; Chatzikyriakidou, Anthi; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Ghosh, Arkasubhra; Shetty, Rohit; Porporato, Natalia; Saravanan, Vijayan; Venkatesh, Rengaraj; Shivkumar, Chandrashekaran; Kalpana, Narendran; Sarangapani, Sripriya; Kanavi, Mozhgan R.; Beni, Afsaneh Naderi; Yazdani, Shahin; Lashay, Alireza; Naderifar, Homa; Khatibi, Nassim; Fea, Antonio; Lavia, Carlo; Dallorto, Laura; Rolle, Teresa; Frezzotti, Paolo; Paoli, Daniela; Salvi, Erika; Manunta, Paolo; Mori, Yosai; Miyata, Kazunori; Higashide, Tomomi; Chihara, Etsuo; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Miyake, Masahiro; Gotoh, Norimoto; Matsuda, Fumihiko; Yoshimura, Nagahisa; Ikeda, Yoko; Ueno, Morio; Sotozono, Chie; Jeoung, Jin Wook; Sagong, Min; Park, Kyu Hyung; Ahn, Jeeyun; Cruz-Aguilar, Marisa; Ezzouhairi, Sidi M.; Rafei, Abderrahman; Chong, Yaan Fun; Ng, Xiao Yu; Goh, Shuang Ru; Chen, Yueming; Yong, Victor H. K.; Khan, Muhammad Imran; Olawoye, Olusola O.; Ashaye, Adeyinka O.; Ugbede, Idakwo; Onakoya, Adeola; Kizor-Akaraiwe, Nkiru; Teekhasaenee, Chaiwat; Suwan, Yanin; Supakontanasan, Wasu; Okeke, Suhanya; Uche, Nkechi J.; Asimadu, Ifeoma; Ayub, Humaira; Akhtar, Farah; Kosior-Jarecka, Ewa; Lukasik, Urszula; Lischinsky, Ignacio; Castro, Vania; Perez Grossmann, Rodolfo; Megevand, Gordana Sunaric; Roy, Sylvain; Dervan, Edward; Silke, Eoin; Rao, Aparna; Sahay, Priti; Fornero, Pablo; Cuello, Osvaldo; Sivori, Delia; Zompa, Tamara; Mills, Richard A.; Souzeau, Emmanuelle; Mitchell, Paul; Wang, Jie Jin; Hewitt, Alex W.; Coote, Michael; Crowston, Jonathan G.; Astakhov, Sergei Y.; Akopov, Eugeny L.; Emelyanov, Anton; Vysochinskaya, Vera; Kazakbaeva, Gyulli; Fayzrakhmanov, Rinat; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Aljasim, Leyla Ali; Chowbay, Balram; Foo, Jia Nee; Soh, Raphael Q.; Sim, Kar Seng; Xie, Zhicheng; Cheong, Augustine W. O.; Mok, Shi Qi; Soo, Hui Meng; Chen, Xiao Yin; Peh, Su Qin; Heng, Khai Koon; Husain, Rahat; Ho, Su-Ling; Hillmer, Axel M.; Cheng, Ching-Yu; Escudero-Dominguez, Francisco A.; Gonzalez-Sarmiento, Rogelio; Martinon-Torres, Frederico; Salas, Antonio; Pathanapitoon, Kessara; Hansapinyo, Linda; Wanichwecharugruang, Boonsong; Kitnarong, Naris; Sakuntabhai, Anavaj; Nguyn, Hip X.; Nguyn, Giang T. T.; Nguyn, TrNh V.; Zenz, Werner; Binder, Alexander; Klobassa, Daniela S.; Hibberd, Martin L.; Davila, Sonia; Herms, Stefan; Nothen, Markus M.; Moebus, Susanne; Rautenbach, Robyn M.; Ziskind, Ari; Carmichael, Trevor R.; Ramsay, Michele; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Rodriguez-Calvo, Pedro P.; Fernandez-Vega Cueto, Luis; Oguz, Cilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Aktas, Dilek; Kasim, Burcu; Wilson, M. Roy; Coleman, Anne L.; Liu, Yutao; Challa, Pratap; Herndon, Leon; Kuchtey, Rachel W.; Kuchtey, John; Curtin, Karen; Chaya, Craig J.; Crandall, Alan; Zangwill, Linda M.; Wong, Tien Yin; Nakano, Masakazu; Kinoshita, Shigeru; den Hollander, Anneke I.; Vesti, Eija; Fingert, John H.; Lee, Richard K.; Sit, Arthur J.; Shingleton, Bradford J.; Wang, Ningli; Cusi, Daniele; Qamar, Raheel; Kraft, Peter; Pericak-Vance, Margaret A.; Raychaudhuri, Soumya; Heegaard, Steffen; Kivela, Tero; Reis, Andre; Kruse, Friedrich E.; Weinreb, Robert N.; Pasquale, Louis R.; Haines, Jonathan L.; Thorsteinsdottir, Unnur; Jonasson, Fridbert; Allingham, R. Rand; Milea, Dan; Ritch, Robert; Kubota, Toshiaki; Tashiro, Kei; Vithana, Eranga N.; Micheal, Shazia; Topouzis, Fotis; Craig, Jamie E.; Dubina, Michael; Sundaresan, Periasamy; Stefansson, Kari; Wiggs, Janey L.; Pasutto, Francesca; Khor, Chiea Chuen.
I:
Nature Genetics, Bind 49, Nr. 7, 2017, s. 993–1004.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Aung, T, Ozaki, M, Lee, MC, Schlotzer-Schrehardt, U, Thorleifsson, G, Mizoguchi, T, Igo, RPJ, Haripriya, A, Williams, SE, Astakhov, YS, Orr, AC, Burdon, KP, Nakano, S, Mori, K, Abu-Amero, K, Hauser, M, Li, Z, Prakadeeswari, G, Bailey, JNC, Cherecheanu, AP, Kang, JH, Nelson, S, Hayashi, K, Manabe, S, Kazama, S, Zarnowski, T, Inoue, K, Irkec, M, Coca-Prados, M, Sugiyama, K, Jarvela, I, Schlottmann, P, Lerner, SF, Lamari, H, Nilgun, Y, Bikbov, M, Park, KH, Cha, SC, Yamashiro, K, Zenteno, JC, Jonas, JB, Kumar, RS, Perera, SA, Chan, ASY, Kobakhidze, N, George, R, Vijaya, L, Do, T, Edward, DP, de Juan Marcos, L, Pakravan, M, Moghimi, S, Ideta, R
, Bach-Holm, D, Kappelgaard, P, Wirostko, B, Thomas, S, Gaston, D, Bedard, K, Greer, WL, Yang, Z, Chen, X, Huang, L, Sang, J, Jia, H, Jia, L, Qiao, C, Zhang, H, Liu, X, Zhao, B, Wang, Y-X, Xu, L, Leruez, S, Reynier, P, Chichua, G, Tabagari, S, Uebe, S, Zenkel, M, Berner, D, Mossboeck, G, Weisschuh, N, Hoja, U, Welge-Luessen, U-C, Mardin, C, Founti, P, Chatzikyriakidou, A, Pappas, T, Anastasopoulos, E, Lambropoulos, A, Ghosh, A, Shetty, R, Porporato, N, Saravanan, V, Venkatesh, R, Shivkumar, C, Kalpana, N, Sarangapani, S, Kanavi, MR, Beni, AN, Yazdani, S, Lashay, A, Naderifar, H, Khatibi, N, Fea, A, Lavia, C, Dallorto, L, Rolle, T, Frezzotti, P, Paoli, D, Salvi, E, Manunta, P, Mori, Y, Miyata, K, Higashide, T, Chihara, E, Ishiko, S, Yoshida, A, Yanagi, M, Kiuchi, Y, Ohashi, T, Sakurai, T, Sugimoto, T, Chuman, H, Aihara, M, Inatani, M, Miyake, M, Gotoh, N, Matsuda, F, Yoshimura, N, Ikeda, Y, Ueno, M, Sotozono, C, Jeoung, JW, Sagong, M, Park, KH, Ahn, J, Cruz-Aguilar, M, Ezzouhairi, SM, Rafei, A, Chong, YF, Ng, XY, Goh, SR, Chen, Y, Yong, VHK, Khan, MI, Olawoye, OO, Ashaye, AO, Ugbede, I, Onakoya, A, Kizor-Akaraiwe, N, Teekhasaenee, C, Suwan, Y, Supakontanasan, W, Okeke, S, Uche, NJ, Asimadu, I, Ayub, H, Akhtar, F, Kosior-Jarecka, E, Lukasik, U, Lischinsky, I, Castro, V, Perez Grossmann, R, Megevand, GS, Roy, S, Dervan, E, Silke, E, Rao, A, Sahay, P, Fornero, P, Cuello, O, Sivori, D, Zompa, T, Mills, RA, Souzeau, E, Mitchell, P, Wang, JJ, Hewitt, AW, Coote, M, Crowston, JG, Astakhov, SY, Akopov, EL, Emelyanov, A, Vysochinskaya, V, Kazakbaeva, G, Fayzrakhmanov, R, Al-Obeidan, SA, Owaidhah, O, Aljasim, LA, Chowbay, B, Foo, JN, Soh, RQ, Sim, KS, Xie, Z, Cheong, AWO, Mok, SQ, Soo, HM, Chen, XY, Peh, SQ, Heng, KK, Husain, R, Ho, S-L, Hillmer, AM, Cheng, C-Y, Escudero-Dominguez, FA, Gonzalez-Sarmiento, R, Martinon-Torres, F, Salas, A, Pathanapitoon, K, Hansapinyo, L, Wanichwecharugruang, B, Kitnarong, N, Sakuntabhai, A, Nguyn, HX, Nguyn, GTT, Nguyn, TV, Zenz, W, Binder, A, Klobassa, DS, Hibberd, ML, Davila, S, Herms, S, Nothen, MM, Moebus, S, Rautenbach, RM, Ziskind, A, Carmichael, TR, Ramsay, M, Alvarez, L, Garcia, M, Gonzalez-Iglesias, H, Rodriguez-Calvo, PP, Fernandez-Vega Cueto, L, Oguz, C, Tamcelik, N, Atalay, E, Batu, B, Aktas, D, Kasim, B, Wilson, MR, Coleman, AL, Liu, Y, Challa, P, Herndon, L, Kuchtey, RW, Kuchtey, J, Curtin, K, Chaya, CJ, Crandall, A, Zangwill, LM, Wong, TY, Nakano, M, Kinoshita, S, den Hollander, AI, Vesti, E, Fingert, JH, Lee, RK, Sit, AJ, Shingleton, BJ, Wang, N, Cusi, D, Qamar, R, Kraft, P, Pericak-Vance, MA, Raychaudhuri, S
, Heegaard, S, Kivela, T, Reis, A, Kruse, FE, Weinreb, RN, Pasquale, LR, Haines, JL, Thorsteinsdottir, U, Jonasson, F, Allingham, RR
, Milea, D, Ritch, R, Kubota, T, Tashiro, K, Vithana, EN, Micheal, S, Topouzis, F, Craig, JE, Dubina, M, Sundaresan, P, Stefansson, K, Wiggs, JL, Pasutto, F & Khor, CC 2017, '
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci',
Nature Genetics, bind 49, nr. 7, s. 993–1004.
https://doi.org/10.1038/ng.3875APA
Aung, T., Ozaki, M., Lee, M. C., Schlotzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R. P. . J., Haripriya, A., Williams, S. E., Astakhov, Y. S., Orr, A. C., Burdon, K. P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J. N. C., ... Khor, C. C. (2017).
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nature Genetics,
49(7), 993–1004.
https://doi.org/10.1038/ng.3875Vancouver
Aung T, Ozaki M, Lee MC, Schlotzer-Schrehardt U, Thorleifsson G, Mizoguchi T o.a.
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nature Genetics. 2017;49(7):993–1004.
https://doi.org/10.1038/ng.3875Author
Aung, Tin ; Ozaki, Mineo ; Lee, Mei Chin ; Schlotzer-Schrehardt, Ursula ; Thorleifsson, Gudmar ; Mizoguchi, Takanori ; Igo, Robert P., Jr. ; Haripriya, Aravind ; Williams, Susan E. ; Astakhov, Yury S. ; Orr, Andrew C. ; Burdon, Kathryn P. ; Nakano, Satoko ; Mori, Kazuhiko ; Abu-Amero, Khaled ; Hauser, Michael ; Li, Zheng ; Prakadeeswari, Gopalakrishnan ; Bailey, Jessica N. Cooke ; Cherecheanu, Alina Popa ; Kang, Jae H. ; Nelson, Sarah ; Hayashi, Ken ; Manabe, Shin-ichi ; Kazama, Shigeyasu ; Zarnowski, Tomasz ; Inoue, Kenji ; Irkec, Murat ; Coca-Prados, Miguel ; Sugiyama, Kazuhisa ; Jarvela, Irma ; Schlottmann, Patricio ; Lerner, S. Fabian ; Lamari, Hasnaa ; Nilgun, Yildirim ; Bikbov, Mukharram ; Park, Ki Ho ; Cha, Soon Cheol ; Yamashiro, Kenji ; Zenteno, Juan C. ; Jonas, Jost B. ; Kumar, Rajesh S. ; Perera, Shamira A. ; Chan, Anita S. Y. ; Kobakhidze, Nino ; George, Ronnie ; Vijaya, Lingam ; Do, Tan ; Edward, Deepak P. ; de Juan Marcos, Lourdes ; Pakravan, Mohammad ; Moghimi, Sasan ; Ideta, Ryuichi ; Bach-Holm, Daniella ; Kappelgaard, Per ; Wirostko, Barbara ; Thomas, Samuel ; Gaston, Daniel ; Bedard, Karen ; Greer, Wenda L. ; Yang, Zhenglin ; Chen, Xueyi ; Huang, Lulin ; Sang, Jinghong ; Jia, Hongyan ; Jia, Liyun ; Qiao, Chunyan ; Zhang, Hui ; Liu, Xuyang ; Zhao, Bowen ; Wang, Ya-Xing ; Xu, Liang ; Leruez, Stephanie ; Reynier, Pascal ; Chichua, George ; Tabagari, Sergo ; Uebe, Steffen ; Zenkel, Matthias ; Berner, Daniel ; Mossboeck, Georg ; Weisschuh, Nicole ; Hoja, Ursula ; Welge-Luessen, Ulrich-Christoph ; Mardin, Christian ; Founti, Panayiota ; Chatzikyriakidou, Anthi ; Pappas, Theofanis ; Anastasopoulos, Eleftherios ; Lambropoulos, Alexandros ; Ghosh, Arkasubhra ; Shetty, Rohit ; Porporato, Natalia ; Saravanan, Vijayan ; Venkatesh, Rengaraj ; Shivkumar, Chandrashekaran ; Kalpana, Narendran ; Sarangapani, Sripriya ; Kanavi, Mozhgan R. ; Beni, Afsaneh Naderi ; Yazdani, Shahin ; Lashay, Alireza ; Naderifar, Homa ; Khatibi, Nassim ; Fea, Antonio ; Lavia, Carlo ; Dallorto, Laura ; Rolle, Teresa ; Frezzotti, Paolo ; Paoli, Daniela ; Salvi, Erika ; Manunta, Paolo ; Mori, Yosai ; Miyata, Kazunori ; Higashide, Tomomi ; Chihara, Etsuo ; Ishiko, Satoshi ; Yoshida, Akitoshi ; Yanagi, Masahide ; Kiuchi, Yoshiaki ; Ohashi, Tsutomu ; Sakurai, Toshiya ; Sugimoto, Takako ; Chuman, Hideki ; Aihara, Makoto ; Inatani, Masaru ; Miyake, Masahiro ; Gotoh, Norimoto ; Matsuda, Fumihiko ; Yoshimura, Nagahisa ; Ikeda, Yoko ; Ueno, Morio ; Sotozono, Chie ; Jeoung, Jin Wook ; Sagong, Min ; Park, Kyu Hyung ; Ahn, Jeeyun ; Cruz-Aguilar, Marisa ; Ezzouhairi, Sidi M. ; Rafei, Abderrahman ; Chong, Yaan Fun ; Ng, Xiao Yu ; Goh, Shuang Ru ; Chen, Yueming ; Yong, Victor H. K. ; Khan, Muhammad Imran ; Olawoye, Olusola O. ; Ashaye, Adeyinka O. ; Ugbede, Idakwo ; Onakoya, Adeola ; Kizor-Akaraiwe, Nkiru ; Teekhasaenee, Chaiwat ; Suwan, Yanin ; Supakontanasan, Wasu ; Okeke, Suhanya ; Uche, Nkechi J. ; Asimadu, Ifeoma ; Ayub, Humaira ; Akhtar, Farah ; Kosior-Jarecka, Ewa ; Lukasik, Urszula ; Lischinsky, Ignacio ; Castro, Vania ; Perez Grossmann, Rodolfo ; Megevand, Gordana Sunaric ; Roy, Sylvain ; Dervan, Edward ; Silke, Eoin ; Rao, Aparna ; Sahay, Priti ; Fornero, Pablo ; Cuello, Osvaldo ; Sivori, Delia ; Zompa, Tamara ; Mills, Richard A. ; Souzeau, Emmanuelle ; Mitchell, Paul ; Wang, Jie Jin ; Hewitt, Alex W. ; Coote, Michael ; Crowston, Jonathan G. ; Astakhov, Sergei Y. ; Akopov, Eugeny L. ; Emelyanov, Anton ; Vysochinskaya, Vera ; Kazakbaeva, Gyulli ; Fayzrakhmanov, Rinat ; Al-Obeidan, Saleh A. ; Owaidhah, Ohoud ; Aljasim, Leyla Ali ; Chowbay, Balram ; Foo, Jia Nee ; Soh, Raphael Q. ; Sim, Kar Seng ; Xie, Zhicheng ; Cheong, Augustine W. O. ; Mok, Shi Qi ; Soo, Hui Meng ; Chen, Xiao Yin ; Peh, Su Qin ; Heng, Khai Koon ; Husain, Rahat ; Ho, Su-Ling ; Hillmer, Axel M. ; Cheng, Ching-Yu ; Escudero-Dominguez, Francisco A. ; Gonzalez-Sarmiento, Rogelio ; Martinon-Torres, Frederico ; Salas, Antonio ; Pathanapitoon, Kessara ; Hansapinyo, Linda ; Wanichwecharugruang, Boonsong ; Kitnarong, Naris ; Sakuntabhai, Anavaj ; Nguyn, Hip X. ; Nguyn, Giang T. T. ; Nguyn, TrNh V. ; Zenz, Werner ; Binder, Alexander ; Klobassa, Daniela S. ; Hibberd, Martin L. ; Davila, Sonia ; Herms, Stefan ; Nothen, Markus M. ; Moebus, Susanne ; Rautenbach, Robyn M. ; Ziskind, Ari ; Carmichael, Trevor R. ; Ramsay, Michele ; Alvarez, Lydia ; Garcia, Montserrat ; Gonzalez-Iglesias, Hector ; Rodriguez-Calvo, Pedro P. ; Fernandez-Vega Cueto, Luis ; Oguz, Cilingir ; Tamcelik, Nevbahar ; Atalay, Eray ; Batu, Bilge ; Aktas, Dilek ; Kasim, Burcu ; Wilson, M. Roy ; Coleman, Anne L. ; Liu, Yutao ; Challa, Pratap ; Herndon, Leon ; Kuchtey, Rachel W. ; Kuchtey, John ; Curtin, Karen ; Chaya, Craig J. ; Crandall, Alan ; Zangwill, Linda M. ; Wong, Tien Yin ; Nakano, Masakazu ; Kinoshita, Shigeru ; den Hollander, Anneke I. ; Vesti, Eija ; Fingert, John H. ; Lee, Richard K. ; Sit, Arthur J. ; Shingleton, Bradford J. ; Wang, Ningli ; Cusi, Daniele ; Qamar, Raheel ; Kraft, Peter ; Pericak-Vance, Margaret A. ; Raychaudhuri, Soumya ; Heegaard, Steffen ; Kivela, Tero ; Reis, Andre ; Kruse, Friedrich E. ; Weinreb, Robert N. ; Pasquale, Louis R. ; Haines, Jonathan L. ; Thorsteinsdottir, Unnur ; Jonasson, Fridbert ; Allingham, R. Rand ; Milea, Dan ; Ritch, Robert ; Kubota, Toshiaki ; Tashiro, Kei ; Vithana, Eranga N. ; Micheal, Shazia ; Topouzis, Fotis ; Craig, Jamie E. ; Dubina, Michael ; Sundaresan, Periasamy ; Stefansson, Kari ; Wiggs, Janey L. ; Pasutto, Francesca ; Khor, Chiea Chuen. / Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. I: Nature Genetics. 2017 ; Bind 49, Nr. 7. s. 993–1004.
Bibtex
@article{d58cefca10a944c180768104aa3a597c,
title = "Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci",
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 × 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 × 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.",
author = "Tin Aung and Mineo Ozaki and Lee, {Mei Chin} and Ursula Schlotzer-Schrehardt and Gudmar Thorleifsson and Takanori Mizoguchi and Igo, {Robert P., Jr.} and Aravind Haripriya and Williams, {Susan E.} and Astakhov, {Yury S.} and Orr, {Andrew C.} and Burdon, {Kathryn P.} and Satoko Nakano and Kazuhiko Mori and Khaled Abu-Amero and Michael Hauser and Zheng Li and Gopalakrishnan Prakadeeswari and Bailey, {Jessica N. Cooke} and Cherecheanu, {Alina Popa} and Kang, {Jae H.} and Sarah Nelson and Ken Hayashi and Shin-ichi Manabe and Shigeyasu Kazama and Tomasz Zarnowski and Kenji Inoue and Murat Irkec and Miguel Coca-Prados and Kazuhisa Sugiyama and Irma Jarvela and Patricio Schlottmann and Lerner, {S. Fabian} and Hasnaa Lamari and Yildirim Nilgun and Mukharram Bikbov and Park, {Ki Ho} and Cha, {Soon Cheol} and Kenji Yamashiro and Zenteno, {Juan C.} and Jonas, {Jost B.} and Kumar, {Rajesh S.} and Perera, {Shamira A.} and Chan, {Anita S. Y.} and Nino Kobakhidze and Ronnie George and Lingam Vijaya and Tan Do and Edward, {Deepak P.} and {de Juan Marcos}, Lourdes and Mohammad Pakravan and Sasan Moghimi and Ryuichi Ideta and Daniella Bach-Holm and Per Kappelgaard and Barbara Wirostko and Samuel Thomas and Daniel Gaston and Karen Bedard and Greer, {Wenda L.} and Zhenglin Yang and Xueyi Chen and Lulin Huang and Jinghong Sang and Hongyan Jia and Liyun Jia and Chunyan Qiao and Hui Zhang and Xuyang Liu and Bowen Zhao and Ya-Xing Wang and Liang Xu and Stephanie Leruez and Pascal Reynier and George Chichua and Sergo Tabagari and Steffen Uebe and Matthias Zenkel and Daniel Berner and Georg Mossboeck and Nicole Weisschuh and Ursula Hoja and Ulrich-Christoph Welge-Luessen and Christian Mardin and Panayiota Founti and Anthi Chatzikyriakidou and Theofanis Pappas and Eleftherios Anastasopoulos and Alexandros Lambropoulos and Arkasubhra Ghosh and Rohit Shetty and Natalia Porporato and Vijayan Saravanan and Rengaraj Venkatesh and Chandrashekaran Shivkumar and Narendran Kalpana and Sripriya Sarangapani and Kanavi, {Mozhgan R.} and Beni, {Afsaneh Naderi} and Shahin Yazdani and Alireza Lashay and Homa Naderifar and Nassim Khatibi and Antonio Fea and Carlo Lavia and Laura Dallorto and Teresa Rolle and Paolo Frezzotti and Daniela Paoli and Erika Salvi and Paolo Manunta and Yosai Mori and Kazunori Miyata and Tomomi Higashide and Etsuo Chihara and Satoshi Ishiko and Akitoshi Yoshida and Masahide Yanagi and Yoshiaki Kiuchi and Tsutomu Ohashi and Toshiya Sakurai and Takako Sugimoto and Hideki Chuman and Makoto Aihara and Masaru Inatani and Masahiro Miyake and Norimoto Gotoh and Fumihiko Matsuda and Nagahisa Yoshimura and Yoko Ikeda and Morio Ueno and Chie Sotozono and Jeoung, {Jin Wook} and Min Sagong and Park, {Kyu Hyung} and Jeeyun Ahn and Marisa Cruz-Aguilar and Ezzouhairi, {Sidi M.} and Abderrahman Rafei and Chong, {Yaan Fun} and Ng, {Xiao Yu} and Goh, {Shuang Ru} and Yueming Chen and Yong, {Victor H. K.} and Khan, {Muhammad Imran} and Olawoye, {Olusola O.} and Ashaye, {Adeyinka O.} and Idakwo Ugbede and Adeola Onakoya and Nkiru Kizor-Akaraiwe and Chaiwat Teekhasaenee and Yanin Suwan and Wasu Supakontanasan and Suhanya Okeke and Uche, {Nkechi J.} and Ifeoma Asimadu and Humaira Ayub and Farah Akhtar and Ewa Kosior-Jarecka and Urszula Lukasik and Ignacio Lischinsky and Vania Castro and {Perez Grossmann}, Rodolfo and Megevand, {Gordana Sunaric} and Sylvain Roy and Edward Dervan and Eoin Silke and Aparna Rao and Priti Sahay and Pablo Fornero and Osvaldo Cuello and Delia Sivori and Tamara Zompa and Mills, {Richard A.} and Emmanuelle Souzeau and Paul Mitchell and Wang, {Jie Jin} and Hewitt, {Alex W.} and Michael Coote and Crowston, {Jonathan G.} and Astakhov, {Sergei Y.} and Akopov, {Eugeny L.} and Anton Emelyanov and Vera Vysochinskaya and Gyulli Kazakbaeva and Rinat Fayzrakhmanov and Al-Obeidan, {Saleh A.} and Ohoud Owaidhah and Aljasim, {Leyla Ali} and Balram Chowbay and Foo, {Jia Nee} and Soh, {Raphael Q.} and Sim, {Kar Seng} and Zhicheng Xie and Cheong, {Augustine W. O.} and Mok, {Shi Qi} and Soo, {Hui Meng} and Chen, {Xiao Yin} and Peh, {Su Qin} and Heng, {Khai Koon} and Rahat Husain and Su-Ling Ho and Hillmer, {Axel M.} and Ching-Yu Cheng and Escudero-Dominguez, {Francisco A.} and Rogelio Gonzalez-Sarmiento and Frederico Martinon-Torres and Antonio Salas and Kessara Pathanapitoon and Linda Hansapinyo and Boonsong Wanichwecharugruang and Naris Kitnarong and Anavaj Sakuntabhai and Nguyn, {Hip X.} and Nguyn, {Giang T. T.} and Nguyn, {TrNh V.} and Werner Zenz and Alexander Binder and Klobassa, {Daniela S.} and Hibberd, {Martin L.} and Sonia Davila and Stefan Herms and Nothen, {Markus M.} and Susanne Moebus and Rautenbach, {Robyn M.} and Ari Ziskind and Carmichael, {Trevor R.} and Michele Ramsay and Lydia Alvarez and Montserrat Garcia and Hector Gonzalez-Iglesias and Rodriguez-Calvo, {Pedro P.} and {Fernandez-Vega Cueto}, Luis and Cilingir Oguz and Nevbahar Tamcelik and Eray Atalay and Bilge Batu and Dilek Aktas and Burcu Kasim and Wilson, {M. Roy} and Coleman, {Anne L.} and Yutao Liu and Pratap Challa and Leon Herndon and Kuchtey, {Rachel W.} and John Kuchtey and Karen Curtin and Chaya, {Craig J.} and Alan Crandall and Zangwill, {Linda M.} and Wong, {Tien Yin} and Masakazu Nakano and Shigeru Kinoshita and {den Hollander}, {Anneke I.} and Eija Vesti and Fingert, {John H.} and Lee, {Richard K.} and Sit, {Arthur J.} and Shingleton, {Bradford J.} and Ningli Wang and Daniele Cusi and Raheel Qamar and Peter Kraft and Pericak-Vance, {Margaret A.} and Soumya Raychaudhuri and Steffen Heegaard and Tero Kivela and Andre Reis and Kruse, {Friedrich E.} and Weinreb, {Robert N.} and Pasquale, {Louis R.} and Haines, {Jonathan L.} and Unnur Thorsteinsdottir and Fridbert Jonasson and Allingham, {R. Rand} and Dan Milea and Robert Ritch and Toshiaki Kubota and Kei Tashiro and Vithana, {Eranga N.} and Shazia Micheal and Fotis Topouzis and Craig, {Jamie E.} and Michael Dubina and Periasamy Sundaresan and Kari Stefansson and Wiggs, {Janey L.} and Francesca Pasutto and Khor, {Chiea Chuen}",
year = "2017",
doi = "10.1038/ng.3875",
language = "English",
volume = "49",
pages = "993–1004",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "7",
}
RIS
TY - JOUR
T1 - Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
AU - Aung, Tin
AU - Ozaki, Mineo
AU - Lee, Mei Chin
AU - Schlotzer-Schrehardt, Ursula
AU - Thorleifsson, Gudmar
AU - Mizoguchi, Takanori
AU - Igo, Robert P., Jr.
AU - Haripriya, Aravind
AU - Williams, Susan E.
AU - Astakhov, Yury S.
AU - Orr, Andrew C.
AU - Burdon, Kathryn P.
AU - Nakano, Satoko
AU - Mori, Kazuhiko
AU - Abu-Amero, Khaled
AU - Hauser, Michael
AU - Li, Zheng
AU - Prakadeeswari, Gopalakrishnan
AU - Bailey, Jessica N. Cooke
AU - Cherecheanu, Alina Popa
AU - Kang, Jae H.
AU - Nelson, Sarah
AU - Hayashi, Ken
AU - Manabe, Shin-ichi
AU - Kazama, Shigeyasu
AU - Zarnowski, Tomasz
AU - Inoue, Kenji
AU - Irkec, Murat
AU - Coca-Prados, Miguel
AU - Sugiyama, Kazuhisa
AU - Jarvela, Irma
AU - Schlottmann, Patricio
AU - Lerner, S. Fabian
AU - Lamari, Hasnaa
AU - Nilgun, Yildirim
AU - Bikbov, Mukharram
AU - Park, Ki Ho
AU - Cha, Soon Cheol
AU - Yamashiro, Kenji
AU - Zenteno, Juan C.
AU - Jonas, Jost B.
AU - Kumar, Rajesh S.
AU - Perera, Shamira A.
AU - Chan, Anita S. Y.
AU - Kobakhidze, Nino
AU - George, Ronnie
AU - Vijaya, Lingam
AU - Do, Tan
AU - Edward, Deepak P.
AU - de Juan Marcos, Lourdes
AU - Pakravan, Mohammad
AU - Moghimi, Sasan
AU - Ideta, Ryuichi
AU - Bach-Holm, Daniella
AU - Kappelgaard, Per
AU - Wirostko, Barbara
AU - Thomas, Samuel
AU - Gaston, Daniel
AU - Bedard, Karen
AU - Greer, Wenda L.
AU - Yang, Zhenglin
AU - Chen, Xueyi
AU - Huang, Lulin
AU - Sang, Jinghong
AU - Jia, Hongyan
AU - Jia, Liyun
AU - Qiao, Chunyan
AU - Zhang, Hui
AU - Liu, Xuyang
AU - Zhao, Bowen
AU - Wang, Ya-Xing
AU - Xu, Liang
AU - Leruez, Stephanie
AU - Reynier, Pascal
AU - Chichua, George
AU - Tabagari, Sergo
AU - Uebe, Steffen
AU - Zenkel, Matthias
AU - Berner, Daniel
AU - Mossboeck, Georg
AU - Weisschuh, Nicole
AU - Hoja, Ursula
AU - Welge-Luessen, Ulrich-Christoph
AU - Mardin, Christian
AU - Founti, Panayiota
AU - Chatzikyriakidou, Anthi
AU - Pappas, Theofanis
AU - Anastasopoulos, Eleftherios
AU - Lambropoulos, Alexandros
AU - Ghosh, Arkasubhra
AU - Shetty, Rohit
AU - Porporato, Natalia
AU - Saravanan, Vijayan
AU - Venkatesh, Rengaraj
AU - Shivkumar, Chandrashekaran
AU - Kalpana, Narendran
AU - Sarangapani, Sripriya
AU - Kanavi, Mozhgan R.
AU - Beni, Afsaneh Naderi
AU - Yazdani, Shahin
AU - Lashay, Alireza
AU - Naderifar, Homa
AU - Khatibi, Nassim
AU - Fea, Antonio
AU - Lavia, Carlo
AU - Dallorto, Laura
AU - Rolle, Teresa
AU - Frezzotti, Paolo
AU - Paoli, Daniela
AU - Salvi, Erika
AU - Manunta, Paolo
AU - Mori, Yosai
AU - Miyata, Kazunori
AU - Higashide, Tomomi
AU - Chihara, Etsuo
AU - Ishiko, Satoshi
AU - Yoshida, Akitoshi
AU - Yanagi, Masahide
AU - Kiuchi, Yoshiaki
AU - Ohashi, Tsutomu
AU - Sakurai, Toshiya
AU - Sugimoto, Takako
AU - Chuman, Hideki
AU - Aihara, Makoto
AU - Inatani, Masaru
AU - Miyake, Masahiro
AU - Gotoh, Norimoto
AU - Matsuda, Fumihiko
AU - Yoshimura, Nagahisa
AU - Ikeda, Yoko
AU - Ueno, Morio
AU - Sotozono, Chie
AU - Jeoung, Jin Wook
AU - Sagong, Min
AU - Park, Kyu Hyung
AU - Ahn, Jeeyun
AU - Cruz-Aguilar, Marisa
AU - Ezzouhairi, Sidi M.
AU - Rafei, Abderrahman
AU - Chong, Yaan Fun
AU - Ng, Xiao Yu
AU - Goh, Shuang Ru
AU - Chen, Yueming
AU - Yong, Victor H. K.
AU - Khan, Muhammad Imran
AU - Olawoye, Olusola O.
AU - Ashaye, Adeyinka O.
AU - Ugbede, Idakwo
AU - Onakoya, Adeola
AU - Kizor-Akaraiwe, Nkiru
AU - Teekhasaenee, Chaiwat
AU - Suwan, Yanin
AU - Supakontanasan, Wasu
AU - Okeke, Suhanya
AU - Uche, Nkechi J.
AU - Asimadu, Ifeoma
AU - Ayub, Humaira
AU - Akhtar, Farah
AU - Kosior-Jarecka, Ewa
AU - Lukasik, Urszula
AU - Lischinsky, Ignacio
AU - Castro, Vania
AU - Perez Grossmann, Rodolfo
AU - Megevand, Gordana Sunaric
AU - Roy, Sylvain
AU - Dervan, Edward
AU - Silke, Eoin
AU - Rao, Aparna
AU - Sahay, Priti
AU - Fornero, Pablo
AU - Cuello, Osvaldo
AU - Sivori, Delia
AU - Zompa, Tamara
AU - Mills, Richard A.
AU - Souzeau, Emmanuelle
AU - Mitchell, Paul
AU - Wang, Jie Jin
AU - Hewitt, Alex W.
AU - Coote, Michael
AU - Crowston, Jonathan G.
AU - Astakhov, Sergei Y.
AU - Akopov, Eugeny L.
AU - Emelyanov, Anton
AU - Vysochinskaya, Vera
AU - Kazakbaeva, Gyulli
AU - Fayzrakhmanov, Rinat
AU - Al-Obeidan, Saleh A.
AU - Owaidhah, Ohoud
AU - Aljasim, Leyla Ali
AU - Chowbay, Balram
AU - Foo, Jia Nee
AU - Soh, Raphael Q.
AU - Sim, Kar Seng
AU - Xie, Zhicheng
AU - Cheong, Augustine W. O.
AU - Mok, Shi Qi
AU - Soo, Hui Meng
AU - Chen, Xiao Yin
AU - Peh, Su Qin
AU - Heng, Khai Koon
AU - Husain, Rahat
AU - Ho, Su-Ling
AU - Hillmer, Axel M.
AU - Cheng, Ching-Yu
AU - Escudero-Dominguez, Francisco A.
AU - Gonzalez-Sarmiento, Rogelio
AU - Martinon-Torres, Frederico
AU - Salas, Antonio
AU - Pathanapitoon, Kessara
AU - Hansapinyo, Linda
AU - Wanichwecharugruang, Boonsong
AU - Kitnarong, Naris
AU - Sakuntabhai, Anavaj
AU - Nguyn, Hip X.
AU - Nguyn, Giang T. T.
AU - Nguyn, TrNh V.
AU - Zenz, Werner
AU - Binder, Alexander
AU - Klobassa, Daniela S.
AU - Hibberd, Martin L.
AU - Davila, Sonia
AU - Herms, Stefan
AU - Nothen, Markus M.
AU - Moebus, Susanne
AU - Rautenbach, Robyn M.
AU - Ziskind, Ari
AU - Carmichael, Trevor R.
AU - Ramsay, Michele
AU - Alvarez, Lydia
AU - Garcia, Montserrat
AU - Gonzalez-Iglesias, Hector
AU - Rodriguez-Calvo, Pedro P.
AU - Fernandez-Vega Cueto, Luis
AU - Oguz, Cilingir
AU - Tamcelik, Nevbahar
AU - Atalay, Eray
AU - Batu, Bilge
AU - Aktas, Dilek
AU - Kasim, Burcu
AU - Wilson, M. Roy
AU - Coleman, Anne L.
AU - Liu, Yutao
AU - Challa, Pratap
AU - Herndon, Leon
AU - Kuchtey, Rachel W.
AU - Kuchtey, John
AU - Curtin, Karen
AU - Chaya, Craig J.
AU - Crandall, Alan
AU - Zangwill, Linda M.
AU - Wong, Tien Yin
AU - Nakano, Masakazu
AU - Kinoshita, Shigeru
AU - den Hollander, Anneke I.
AU - Vesti, Eija
AU - Fingert, John H.
AU - Lee, Richard K.
AU - Sit, Arthur J.
AU - Shingleton, Bradford J.
AU - Wang, Ningli
AU - Cusi, Daniele
AU - Qamar, Raheel
AU - Kraft, Peter
AU - Pericak-Vance, Margaret A.
AU - Raychaudhuri, Soumya
AU - Heegaard, Steffen
AU - Kivela, Tero
AU - Reis, Andre
AU - Kruse, Friedrich E.
AU - Weinreb, Robert N.
AU - Pasquale, Louis R.
AU - Haines, Jonathan L.
AU - Thorsteinsdottir, Unnur
AU - Jonasson, Fridbert
AU - Allingham, R. Rand
AU - Milea, Dan
AU - Ritch, Robert
AU - Kubota, Toshiaki
AU - Tashiro, Kei
AU - Vithana, Eranga N.
AU - Micheal, Shazia
AU - Topouzis, Fotis
AU - Craig, Jamie E.
AU - Dubina, Michael
AU - Sundaresan, Periasamy
AU - Stefansson, Kari
AU - Wiggs, Janey L.
AU - Pasutto, Francesca
AU - Khor, Chiea Chuen
PY - 2017
Y1 - 2017
N2 - 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 × 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 × 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.
AB - 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 × 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 × 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.
U2 - 10.1038/ng.3875
DO - 10.1038/ng.3875
M3 - Journal article
C2 - 28553957
VL - 49
SP - 993
EP - 1004
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 7
ER -
