Now showing items 1-12 of 12

    • Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration 

      Cuellar-Partida, Gabriel; Craig, Jamie E; Burdon, Kathryn Penelope; Wang, Jie Jin; Vote, Brendan J; Souzeau, Emmanuelle; McAllister, Ian L; Isaacs, Timothy; Lake, Stewart; Mackey, David A; Constable, Ian J; Mitchell, Paul; Hewitt, Alex W; MacGregor, Stuart (Nature Publishing Group, 2016)
      Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there ...
    • Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study. 

      Burdon, Kathryn Penelope; Mitchell, Paul; Lee, Anne; Healey, Paul R; White, Andrew J; Rochtchina, Elena; Thomas, P; Wang, Jie Jin; Craig, Jamie E (Elsevier Inc., 2015)
      PURPOSE: To determine if open-angle glaucoma (OAG)-associated single nucleotide polymorphisms (SNPs) are associated with incident glaucoma and if such genetic information is useful in OAG risk prediction. DESIGN: ...
    • 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 ...
    • DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma 

      Burdon, Kathryn Penelope; Awadalla, Mona S; Mitchell, Paul; Wang, Jie Jin; White, Andrew J; Keane, Miriam Claire; Souzeau, Emmanuelle; Graham, Stuart L; Goldberg, Ivan; Healey, Paul R; Landers, John; Mills, Richard Arthur; Best, Stephen; Hewitt, Alex W; Sharma, Shiwani; Craig, Jamie E (Taylor & Francis Group, 2017-12-21)
      Purpose: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which ...
    • Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma 

      Ng, Soo Khai; Burdon, Kathryn Penelope; Fitzgerald, Jude T; Zhou, Tiger; Fogarty, Rhys Daniel; Souzeau, Emmanuelle; Landers, John; Mills, Richard Arthur; Casson, Robert J; Ridge, Bronwyn; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Healey, Paul R; Wang, Jie Jin; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Association for Research in Vision and Ophthalmology (ARVO), 2016)
    • Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma 

      Dimasi, David Paul; Burdon, Kathryn Penelope; Hewitt, Alex W; Fitzgerald, Jude T; Wang, Jie Jin; Healey, Paul R; Mitchell, Paul; Mackey, David A; Craig, Jamie E (Elsevier, 2012-07-30)
      Purpose To ascertain if single nucleotide polymorphisms (SNPs) involved in the determination of central corneal thickness, optic disc area, and vertical cup-to-disc ratio (VCDR) also are associated with open-angle glaucoma ...
    • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 

      Burdon, Kathryn Penelope; MacGregor, Stuart; Hewitt, Alex W; Sharma, Shiwani; Chidlow, Glyn; Mills, Richard Arthur; Danoy, Patrick; Casson, Robert J; Viswanathan, Ananth C; Liu, Jimmy Z; Landers, John; Henders, Anjali K; Wood, John; Souzeau, Emmanuelle; Crawford, April; Leo, Paul; Wang, Jie Jin; Nyholt, Dale R; Martin, Nicholas G; Montgomery, Grant W; Mitchell, Paul; Brown, Matthew A; Mackey, David A; Craig, Jamie E (Nature Publishing Group, 2011)
      A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...
    • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia 

      Verhoeven, Virginie J M; Hysi, Pirro G; Wojciechowski, Robert; Fan, Qiao; Guggenheim, Jeremy A; Hohn, Rene; MacGregor, Stuart; Hewitt, Alex W; Nag, Abhishek; Cheng, Ching-Yu; Yonova-Doing, Ekaterina; Zhou, Xin (National University of Singapore); Ikram, M Kamran; Buitendijk, Gabrielle H S; McMahon, George; Kemp, John P; St Pourcain, St Pourcain; Simpson, Claire L; Mäkela, Kari-Matti; Lehtimaki, Terho; Kahonen, Mika; Paterson, Andrew D; Hosseini, S Mohsen; Wong, Hoi Suen; Xu, Liang; Jonas, Jost B; Pärssinen, Olavi; Wedenoja, Juho; Yip, Shea Yip; Ho, Daniel W H; Pang, Chi Pui; Chen, Li-Jia; Klein, Barbara E K; Klein, Ronald; Haller, Toomas; Metspalu, Andres; Khor, Chiea Chuen; Tai, E-Shyong; Aung, Tin; Vithana, Eranga; Tay, Wan-Ting; Barathi, Veluchamy A; Chen, Peng; Li, Ruoying; Liao, Jiemin; Zheng, Yingfeng (Singapore Eye Research Institute); Ong, Rick T; Döring, Angela; Evans, David M; Timpson, Nicholas J; Verkerk, Annemieke J M H; Meitinger, Thomas; Raitakari, Olli; Hawthorne, Felicia; Spector, Tim D; Karssen, Lennart C; Pirastu, Mario; Murgia, Federico; Ang, Wei; Mishra, Aniket; Montgomery, Grant W; Pennell, Craig E; Cumberland, Phillippa M; Cotlarciuc, Ioana; Mitchell, Paul; Wang, Jie Jin; Schache, Maria; Janmahasathian, Sarayut; Igo Jr, Robert P; Lass, Jonathan H; Chew, Emily; Iyengar, Sudha K; Gorgels, Theo G M F; Rudan, Igor; Hayward, Caroline; Wright, Alan F; Craig, Jamie E; Burdon, Kathryn Penelope (Nature Publishing Group, 2013-02-10)
      Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, ...
    • A large genome-wide association study of age-related macular degeneration highlights contribution of rare and common variants 

      Fritsche, Lars G; Igl, Wilmar; Cooke-Bailey, Jessica N; Grassmann, Felix; Sengupta, Sebanti; Bragg-Gresham, Jennifer L; Burdon, Kathryn Penelope; Hebbring, Scott J; Wen, Cindy; Gorski, Mathias; Kim, Ivana K; Cho, David; Zack, Donald; Souied, Eric; Scholl, Hendrik P N; Bala, Elisa; Lee, Kristine E; Hunter, David J; Sardell, Rebecca J; Mitchell, Paul; Merriam, Joanna E; Cipriani, Valentina; Hoffman, Joshua D; Schick, Tina; Lechanteur, Yara T E; Guymer, Robyn H; Johnson, Matthew P; Jiang, Yingda; Stanton, Chloe M; Buitendijk, Gabrielle H S; Zhan, Xiaowei; Kwong, Alan M; Boleda, Alexis; Brooks, Matthew; Gieser,Linn; Ratnapriya, Rinki; Branham, Kari E; Foerster, Johanna R; Heckenlively, John R; Othman, Mohammad I; Vote, Brendan J; Liang, Helena Hai; Souzeau, Emmanuelle; McAllister, Ian L; Isaacs, Timothy; Hall, Janette; Lake, Stewart; Mackey, David A; Constable, Ian J; Craig, Jamie E; Kitchner, Terrie E; Yang, Zhenglin; Su, Zhiguang; Luo, Hongrong; Chen, Daniel; Ouyang, Hong; Flegg, Ken; Lin, Danni; Mao, Guanping; Ferreyra, Henry; Stark, Klaus; von Strachwitz, Claudia N; Wolf, Armin; Brandl, Caroline; Rudolph, Guenther; Olden, Matthias; Morrison, Margaux A; Morgan, Denise J; Schu, Matthew; Ahn, Matthew; Silvestri, Giuliana; Tsironi, Evangelia E; Park, Kyu Hyung; Farrer, Lindsay A; Orlin, Anton; Brucker, Alexander; Li, Mingyao; Curcio, Christine; Mohand-Saïd, Saddek; Sahel, Jose-Alain; Audo, Isabelle; Benchaboune, Mustapha; Cree, Angela J; Rennie, Christina A; Goverdhan, Srinivas V; Grunin, Michelle; Hagbi-Levi, Shira; Campochiaro, Peter; Katsanis, Nicholas; Holz, Frank G; Blond, Frederic; Blanche, Helene; Deleuze, Jean-Francois; Igo Jr, Robert P; Truitt, Barbara; Peachey, Neal S; Meuer, Stacy M; Myers, Chelsea E; Moore, Emily M; Klein, Ronald; Hauser, Michael A; Postel, Eric A; Courtenay, Monique D; Schwartz, Stephen G; Kovach, Jaclyn L; Scott, William K; Liew, Gerald; Tan, Ava G; Gopinath, Bamini; Merriam, John C; Smith, R Theodore; Khan, Jane C; Shahid, Humma; Moore, Anthony T; McGrath, J Allie; Laux, Rene; Brantley Jr., Milam A; Agarwal, Anita; Ersoy, Lebriz; Caramoy, Albert; Langmann, Thomas; Saksens, Nicole T M; de Jong, Eiko K; Hoyng, Carel B; Cain, Melinda S; Richardson, Andrea J; Martin,Tammy M; Blangero, John; Weeks, Daniel E; Dhillon, Bal; van Duijn, Cornelia M; Doheny, Kimberly F; Romm, Jane; Klaver, Caroline C W; Hayward, Caroline; Gorin, Michael B; Klein, Michael L; Baird, Paul N; den Hollander, Anneke I; Fauser, Sascha; Yates, John R W; Allikmets, Rando; Wang, Jie Jin; Schaumberg, Debra A; Klein, Barbara E K; Hagstrom, Stephanie A; Chowers, Itay; Lotery, Andrew J; Léveillard, Thierry; Zhang, Kang; Brilliant, Murray H; Hewitt, Alex W; Swaroop, Anand; Chew, Emily Y; Pericak-Vance, Margaret A; DeAngelis, Margaret; Stambolian, Dwight; Haines, Jonathan L; Iyengar, Sudha K; Weber, Bernhard H F; Abecasis, Goncalo R (Nature Publishing Group, 2015-12-21)
      Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...
    • Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 

      Dave, Alpana; Laurie, Kate; Staffieri, Sandra E; Taranath, Deepa A; Mackey, David A; Mitchell, Paul; Wang, Jie Jin; Craig, Jamie E; Burdon, Kathryn Penelope; Sharma, Shiwani (Public Library of Science, 2013)
      Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, ...
    • 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 ...
    • Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus 

      Bae, Ha Ae; Mills, Richard Arthur; Lindsay, Richard; Phillips, Tony; Mitchell, Paul; Wang, Jie Jin; Coster, Douglas John; Craig, Jamie E; Burdon, Kathryn Penelope (Association for Research in Vision and Ophthalmology (ARVO), 2013-07-30)
      Keratoconus is a common complex corneal ectasia that can lead to severe visual impairment. Although a genetic component is well recognized, the genetic risk factors for keratoconus are yet to be fully elucidated. A recent ...