Skip to main content
Open Access Publications from the University of California

UC San Diego

UC San Diego Previously Published Works bannerUC San Diego

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

  • Author(s): Springelkamp, Henriët;
  • Höhn, René;
  • Mishra, Aniket;
  • Hysi, Pirro G;
  • Khor, Chiea-Chuen;
  • Loomis, Stephanie J;
  • Bailey, Jessica N Cooke;
  • 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 I;
  • Verhoeven, Virginie JM;
  • Hauser, Michael A;
  • Loon, Seng-Chee;
  • Despriet, Dominiek DG;
  • Nag, Abhishek;
  • Venturini, Cristina;
  • Sanfilippo, Paul G;
  • Schillert, Arne;
  • Kang, Jae H;
  • Landers, John;
  • Jonasson, Fridbert;
  • Cree, Angela J;
  • van Koolwijk, Leonieke ME;
  • Rivadeneira, Fernando;
  • Souzeau, Emmanuelle;
  • Jonsson, Vesteinn;
  • Menon, Geeta;
  • Blue Mountains Eye Study—GWAS group;
  • Weinreb, Robert N;
  • de Jong, Paulus TVM;
  • Oostra, Ben A;
  • Uitterlinden, André G;
  • Hofman, Albert;
  • Ennis, Sarah;
  • Thorsteinsdottir, Unnur;
  • Burdon, Kathryn P;
  • NEIGHBORHOOD Consortium;
  • Wellcome Trust Case Control Consortium 2 (WTCCC2);
  • Spector, Timothy D;
  • Mirshahi, Alireza;
  • Saw, Seang-Mei;
  • Vingerling, Johannes R;
  • Teo, Yik-Ying;
  • Haines, Jonathan L;
  • Wolfs, Roger CW;
  • Lemij, Hans G;
  • Tai, E-Shyong;
  • Jansonius, Nomdo M;
  • Jonas, Jost B;
  • Cheng, Ching-Yu;
  • Aung, Tin;
  • Viswanathan, Ananth C;
  • Klaver, Caroline CW;
  • Craig, Jamie E;
  • Macgregor, Stuart;
  • Mackey, David A;
  • Lotery, Andrew J;
  • Stefansson, Kari;
  • Bergen, Arthur AB;
  • Young, Terri L;
  • Wiggs, Janey L;
  • Pfeiffer, Norbert;
  • Wong, Tien-Yin;
  • Pasquale, Louis R;
  • Hewitt, Alex W;
  • van Duijn, Cornelia M;
  • Hammond, Christopher J
  • et al.

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 genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.

Main Content
For improved accessibility of PDF content, download the file to your device.
Current View