Nature Communications (May 2018)

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

  • Adriana I. Iglesias,
  • Aniket Mishra,
  • Veronique Vitart,
  • Yelena Bykhovskaya,
  • René Höhn,
  • Henriët Springelkamp,
  • Gabriel Cuellar-Partida,
  • Puya Gharahkhani,
  • Jessica N. Cooke Bailey,
  • Colin E. Willoughby,
  • Xiaohui Li,
  • Seyhan Yazar,
  • Abhishek Nag,
  • Anthony P. Khawaja,
  • Ozren Polašek,
  • David Siscovick,
  • Paul Mitchell,
  • Yih Chung Tham,
  • Jonathan L. Haines,
  • Lisa S. Kearns,
  • Caroline Hayward,
  • Yuan Shi,
  • Elisabeth M. van Leeuwen,
  • Kent D. Taylor,
  • Blue Mountains Eye Study—GWAS group,
  • Pieter Bonnemaijer,
  • Jerome I. Rotter,
  • Nicholas G. Martin,
  • Tanja Zeller,
  • Richard A. Mills,
  • Emmanuelle Souzeau,
  • Sandra E. Staffieri,
  • Jost B. Jonas,
  • Irene Schmidtmann,
  • Thibaud Boutin,
  • Jae H. Kang,
  • Sionne E. M. Lucas,
  • Tien Yin Wong,
  • Manfred E. Beutel,
  • James F. Wilson,
  • NEIGHBORHOOD Consortium,
  • Wellcome Trust Case Control Consortium 2 (WTCCC2),
  • André G. Uitterlinden,
  • Eranga N. Vithana,
  • Paul J. Foster,
  • Pirro G. Hysi,
  • Alex W. Hewitt,
  • Chiea Chuen Khor,
  • Louis R. Pasquale,
  • Grant W. Montgomery,
  • Caroline C. W. Klaver,
  • Tin Aung,
  • Norbert Pfeiffer,
  • David A. Mackey,
  • Christopher J. Hammond,
  • Ching-Yu Cheng,
  • Jamie E. Craig,
  • Yaron S. Rabinowitz,
  • Janey L. Wiggs,
  • Kathryn P. Burdon,
  • Cornelia M. van Duijn,
  • Stuart MacGregor

DOI
https://doi.org/10.1038/s41467-018-03646-6
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 11

Abstract

Read online

Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.