Now showing items 1-10 of 10

    • Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Hewitt, Alex W; Law, Matthew H; Souzeau, Emmanuelle; Montgomery, Grant W; Radford-Smith, Graham; Mackey, David A; Craig, Jamie E; MacGregor, Stuart (Association for Research in Vision and Ophthalmology, 2015-08)
      PURPOSE: Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele ...
    • Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Cooke-Bailey, Jessica N; Hewitt, Alex W; Law, Matthew H; Pasquale, Louis R; Kang, Jae Hee; Haines, Jonathan L; Souzeau, Emmanuelle; Zhou, Tiger; Siggs, Owen M; Landers, John; Awadalla, Mona S; Sharma, Shiwani; Mills, Richard Arthur; Ridge, Bronwyn; Lynn, David J; Casson, Robert J; Graham, Stuart L; Goldberg, Ivan; White, Andrew J; Healey, Paul R; Grigg, John RB; Lawlor, Mitchell; Mitchell, Paul; Ruddle, Jonathan B; Coote, Michael A; Walland, Mark; Best, Stephen; Vincent, Andrea; Gale, Jesse; Radford-Smith, Graham; Whiteman, David C; Montgomery, Grant W; Martin, Nicholas G; Mackey, David A; Wiggs, Janey L; MacGregor, Stuart; Craig, Jamie E; Neighborhood Consortium (Nature Publishing Group, 2018-02-18)
      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 ...
    • A common variant near TGFBR3 is associated with primary open angle glaucoma 

      Li, Zheng; Allingham, R Rand; Nakano, Masakazu; Jia, Liyun; Chen, Yuhong; Ikeda, Yoko; Mani, Baskaran; Chen, Li-Jia; Kee, Changwon; Garway-Heath, David F; Sarangapani, Sripriya; Fuse, Nobuo; Abu-Amero, Khaled K; Huang, Chukai; Namburi, Prasanthi; Burdon, Kathryn Penelope; Perera, Shamira A; Gharahkhani, Puya; Lin, Ying; Ueno, Morio; Ozaki, Mineo; Mizoguchi, Takanori; Krishnadas, Subbiah Ramasamy; Osman, Essam A; Lee, Mei Chin; Chan, Anita S Y; Tajudin, Liza-Sharmini A; Do, Tan; Goncalves, Aurelien; Reynier, Pascal; Zhang, Hong; Bourne, Rupert R A; Goh, David; Broadway, David; Husain, Rahat; Negi, Anil K; Su, Daniel H; Ho, Ching-Lin; Blanco, Augusto Azuara; Leung, Christopher K C; Wong, Tina T; Yakub, Azhany; Liu, Yutao; Nongpiur, Monisha E; Han, Jong Chul; Hon, Do Nhu; Shantha, Balekudaru; Zhao, Bowen; Sang, Jinghong; Zhang, NiHong; Consortium, ICAARE-Glaucoma; Neighborhood Consortium; Hewitt, Alex W; Mackey, David A; Craig, Jamie E; et. al. (Oxford University Press, 2015)
      Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution.We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with ...
    • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Fogarty, Rhys Daniel; Sharma, Shiwani; Hewitt, Alex W; Martin, Sarah; Law, Matthew H; Cremin, Katie; Cooke-Bailey, Jessica N; Loomis, Stephanie J; Pasquale, Louis R; Haines, Jonathan L; Hauser, Michael A; Viswanathan, Ananth C; McGuffin, Peter W; Topouzis, Fotis; Foster, Paul J; Graham, Stuart L; Casson, Robert J; Chehade, Mark; White, Andrew J; Zhou, Tiger; Souzeau, Emmanuelle; Landers, John; Fitzgerald, Jude T; Klebe, Sonja; Ruddle, Jonathan B; Goldberg, Ivan; Healey, Paul R; Wellcome Trust Case Control Consortium; Neighborhood Consortium; Mills, Richard Arthur; Wang, Jie Jin; Montgomery, Grant W; Martin, Nicholas G; Radford-Smith, Graham; Whiteman, David C; Brown, Matthew A; Wiggs, Janey L; Mackey, David A; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Nature Publishing Group, 2014-10)
      Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 ...
    • Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases 

      Iglesias, Adriana; Mishra, Aniket; Vitart, Veronique; Bykhovskaya, Yelena; Hohn, Rene; Springelkamp, Henriet; Cuellar-Partida, Gabriel; Gharahkhani, Puya; Cooke Bailey, Jessica N; Willoughby, Colin E; Li, Xiaohui; Yazar, Seyhan; Nag, Abhishek; Khawaja, Anthony; Polasek, Ozren; Siscovick, David; Mitchell, Paul; Tham, Yih Chung; Haines, Jonathan L; Kearns, Lisa S; Hayward, Caroline; Shi, Yan; van Leeuwen, Elisabeth M; Taylor, Kent D; Blue Mountains Eye Study - GWAS group,; Bonnemaijer, Pieter; Rotter, Jerome I; Martin, Nicholas G; Zeller, Tanja; Mills, Richard Arthur; Souzeau, Emmanuelle; Staffieri, Sandra E; Jonas, Jost B; Schmidtmann, Irene; Boutin, Thibaud; Kang, Jae Hee; Lucas, Sionne E; Wong, Tien Yin; Beutel, Manfred E; Wilson, James F; Neighborhood Consortium; Uitterlinden, Andre G; Vithana, Eranga; Foster, Paul J; Hysi, Pirro G; Hewitt, Alex W; Khor, Chiea Chuen; Pasquale, Louis R; Montgomery, Grant W; Klaver, Caroline C W; Aung, Tin; Pfeiffer, Norbert; Mackey, David A; Hammond, Christopher J; Cheng, Ching-Yu; Craig, Jamie E; Rabinowitz, Yaron S; Wiggs, Janey L; van Duijn, Cornelia M; MacGregor, Stuart (Springer Nature, 2018-05-14)
      Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. ...
    • Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma 

      MacGregor, Stuart; Ong, Jue Sheng; An, Jiyuan; Han, Xikun; Zhou, Tiger; Siggs, Owen M; Law, Matthew H; Souzeau, Emmanuelle; Sharma, Shiwani; Lynn, David J; Beesley, Jonathan; Sheldrick, Bronwyn; Mills, Richard Arthur; Landers, John; Ruddle, Jonathan B; Graham, Stuart L; Healey, Paul R; White, Andrew J; Casson, Robert J; Best, Stephen; Grigg, John RB; Goldberg, Ivan; Powell, Joseph E; Whiteman, David C; Smith, Graham; Martin, Nicholas G; Montgomery, Grant W; Burdon, Kathryn Penelope; Mackey, David A; Gharahkhani, Puya; Craig, Jamie E; Hewitt, Alex W (Springer Nature, 2018-07-27)
      Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined ...
    • Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error 

      Fan, Qiao; Verhoeven, Virginie J M; Wojciechowski, Robert; Barathi, Veluchamy A; Hysi, Pirro; Guggenheim, Jeremy A; Hohn, Rene; Vitart, Veronique; Khawaja, Anthony; Yamashiro, Kenji; Hosseini, S Mohsen; Lehtimaki, Terho; Lu, Yi; Haller, Toomas; Xie, Jing; Delcourt, Cecile; Pirastu, Mario; Wedenoja, Juho; Gharahkhani, Puya; Venturini, Cristina; Miyake, Masahiro; Hewitt, Alex W; Guo, Xiaobo; Mazur, Johanna; Huffman, Jenifer E; Williams, Katie M; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Vatavuk, Zoran; Wilson, James F; Joshi, Peter K; McMahon, George; St Pourcain, Beate; Evans, David M; Simpson, Claire L; Schwantes-An, Tae-Hwi; Igo, Robert P; Mirshahi, Alireza; Cougnard-Gregoire, Audrey; Bellenguez, Celine; Blettner, Maria; Raitakari, Olli; Kahonen, Mika; Seppala, Ilkka; Zeller, Tanja; Meitinger, Thomas; Ried, Janina S; Gieger, Christian; Portas, Laura; van Leeuwen, Elisabeth M; Amin, Najaf; Uitterlinden, Andre G; Rivadeneira, Fernando; Hofman, Albert; Vingerling, Johannes R; Wang, Ya Xing; Wang, Xu; Boh, Eileen Tai-Hui; Ikram, M Kamran; Sabanayagam, Charumathi; Gupta, Preeti; Tan, Vincent; Zhou, Lei; Ho, Candice E H; Lim, Wan'e; Craig, Jamie E; Burdon, Kathryn Penelope; Fogarty, Rhys Daniel; Consortium, Refractive Error and Myopia (CREAM); et. al. (Nature Publishing Group, 2016)
      Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium ...
    • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process 

      Springelkamp, Henriet; Hohn, Rene; Mishra, Aniket; Hysi, Pirro; Khor, Chiea Chuen; Loomis, Stephanie J; Cooke-Bailey, Jessica N; Gibson, Jane; Thorleifsson, Gudmar; Janssen, Sarah F; Luo, Xiaoyan; Ramdas, Wishal D; Vithana, Eranga; Nongpiur, Monisha E; Montgomery, Grant W; Xu, Liang; Mountain, Jenny E; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Karssen, Lennart C; Sim, Kar Seng; van Leeuwen, Elisabeth M; Iglesias, Adriana; Verhoeven, Virginie J M; Hauser, Michael A; Loon, Seng Chee; Despriet, Dominiek D G; Nag, Abhishek; Venturini, Cristina; Sanfilippo, Paul Gerard; Schillert, Arne; Kang, Jae H; Landers, John; Jonasson, Fridbert; Cree, Angela J; van Koolwijk, Leonieke M E; Rivadeneira, Fernando; Souzeau, Emmanuelle; Jonsson, Vesteinn; Menon, Geeta; Weinreb, Robert Neal; de Jong, Paulus T V M; Oostra, Ben A; Uitterlinden, Andre G; Hofman, Albert; Ennis, Sarah; Thorsteinsdottir, Unnur; Burdon, Kathryn Penelope; Spector, Tim; Mirshahi, Alireza; Saw, Seangmei; Vingerling, Johannes R; Teo, Yik Ying; Haines, Jonathan L; Wolfs, Roger C W; Lemij, Hans G; Tai, E-Shyong; Jansonius, Nomdo M; Jonas, Jost B; Cheng, Ching-Yu; Aung, Tin; Viswanathan, Ananth C; Klaver, Caroline C W; Craig, Jamie E; MacGregor, Stuart; Mackey, David A; Lotery, Andrew J; Stefansson, Kari; Bergen, Arthur A B B; Young, Terri L; Wiggs, Janey L; Pfeiffer, Norbert; Wong, Tien Yin; Pasquale, Louis R; Hewitt, Alex W; Hammond, Christopher J (Nature Publishing Group, 2014-09)
      Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of ...
    • New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. 

      Springelkamp, Henriët; Iglesias, Adriana; Mishra, Aniket; Hohn, Rene; Wojciechowski, Robert; Khwaja, Anthony P; Nag, Abhishek; Wang, Ya Xing; Wang, Jie Jin; Cuellar-Partida, Gabriel; Gibson, Jane; Cooke-Bailey, Jessica N; Vithana, Eranga; Gharahkhani, Puya; Boutin, Thibaud; Ramdas, Wishal D; Zeller, Tanja; Luben, Robert N; Yonova-Doing, Ekaterina; Yazar, Seyhan; Cree, Angela J; Haines, Jonathan L; Koh, Jia Yu; Souzeau, Emmanuelle; Wilson, James F; Amin, Najaf; Muller, Christian; Venturini, Cristina; Kearns, Lisa S; Kang, Jae Hee; Tham, Yih Chung; Zhou, Tiger; van Leeuwen, Elisabeth M; NIckels, Stefan; Sanfilippo, Paul Gerard; Liao, Jiemin; van der Linde, Herma; Zhao, Wanting; van Koolwijk, Leonieke M E; Zheng, Li; Rivadeneira, Fernando; Baskaran, Mani; van der Lee, Sven J; Perera, Shamira; de Jong, Paulus T V M; Oostra, Ben A; Uitterlinden, Andre G; Fan, Qiao; Hofman, Albert; Tai, E-Shyong; Vingerling, Johannes R; Sim, Xueling; Wolfs, Roger C W; Teo, Yik Ying; Lemij, Hans G; Khor, Chiea Chuen; Willemsen, Rob; Lackner, Karl J; Aung, Tin; Jansonius, Nomdo M; Montgomery, Grant W; Wild, Philipp S; Young, Terri L; Burdon, Kathryn Penelope; Hysi, Pirro G; Pasquale, Louis R; Wong, Tien Yin; Klaver, Caroline C W; Hewitt, Alex W; Jonas, Jost B; Mitchell, Paul; Lotery, Andrew J; Foster, Paul J; Vitart, Veronique; Pfeiffer, Norbert; Craig, Jamie E; Mackey, David A; Hammond, Christopher J; Wiggs, Janey L; Cheng, Ching-Yu; van Duijin, Cornelia M; MacGregor, Stuart; Viswanathan, Ananth C (Oxford University Press, 2017-01)
      Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head ...
    • Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets 

      Cooke-Bailey, Jessica N; Gharahkhani, Puya; Kang, Jae Hee; Butkiewicz, Mariusz; Sullivan, David; Weinreb, Robert Neal; Aschard, Hugues; Allingham, R Rand; Ashley-Koch, Allison; Lee, Richard K; Moroi, Sayoko E; Brilliant, Murray H; Wollstein, Gadi; Schuman, Joel; Fingert, John H; Budenz, Donald L; Realini, Tony; Gaasterland, Terry; Scott, William K; Singh, Kuldev; Sit, Arthur J; Igo Jr, Robert P; Song, Yeunjoo E; Hark, Lisa; Ritch, Robert; Rhee, Douglas J; Vollrath, Douglas; Zack, Donald; Medeiros, Felipe; Vajaranant, Thasarat S; Chasman, Daniel I; Christen, William G; Pericak-Vance, Margaret A; Liu, Yutao; Kraft, Peter; Richards, Julia E; Rosner, Bernard A; Hauser, Michael A; Craig, Jamie E; Burdon, Kathryn Penelope; Hewitt, Alex W; Mackey, David A; Haines, Jonathan L; MacGregor, Stuart; Wiggs, Janey L; Pasquale, Louis R; Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium (Investigative Ophthalmology and Visual Science, 2018-02)
      Purpose: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated ...