Communications Biology (Mar 2021)
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
- Alison J. Hardcastle,
- Petra Liskova,
- Yelena Bykhovskaya,
- Bennet J. McComish,
- Alice E. Davidson,
- Chris F. Inglehearn,
- Xiaohui Li,
- Hélène Choquet,
- Mahmoud Habeeb,
- Sionne E. M. Lucas,
- Srujana Sahebjada,
- Nikolas Pontikos,
- Karla E. Rojas Lopez,
- Anthony P. Khawaja,
- Manir Ali,
- Lubica Dudakova,
- Pavlina Skalicka,
- Bart T. H. Van Dooren,
- Annette J. M. Geerards,
- Christoph W. Haudum,
- Valeria Lo Faro,
- Abi Tenen,
- Mark J. Simcoe,
- Karina Patasova,
- Darioush Yarrand,
- Jie Yin,
- Salina Siddiqui,
- Aine Rice,
- Layal Abi Farraj,
- Yii-Der Ida Chen,
- Jugnoo S. Rahi,
- Ronald M. Krauss,
- Elisabeth Theusch,
- Jac C. Charlesworth,
- Loretta Szczotka-Flynn,
- Carmel Toomes,
- Magda A. Meester-Smoor,
- Andrea J. Richardson,
- Paul A. Mitchell,
- Kent D. Taylor,
- Ronald B. Melles,
- Anthony J. Aldave,
- Richard A. Mills,
- Ke Cao,
- Elsie Chan,
- Mark D. Daniell,
- Jie Jin Wang,
- Jerome I. Rotter,
- Alex W. Hewitt,
- Stuart MacGregor,
- Caroline C. W. Klaver,
- Wishal D. Ramdas,
- Jamie E. Craig,
- Sudha K. Iyengar,
- David O’Brart,
- Eric Jorgenson,
- Paul N. Baird,
- Yaron S. Rabinowitz,
- Kathryn P. Burdon,
- Chris J. Hammond,
- Stephen J. Tuft,
- Pirro G. Hysi
Affiliations
- Alison J. Hardcastle
- UCL Institute of Ophthalmology
- Petra Liskova
- UCL Institute of Ophthalmology
- Yelena Bykhovskaya
- The Cornea Eye Institute
- Bennet J. McComish
- Menzies Institute for Medical Research, University of Tasmania
- Alice E. Davidson
- UCL Institute of Ophthalmology
- Chris F. Inglehearn
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Xiaohui Li
- Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center
- Hélène Choquet
- Division of Research, Kaiser Permanente Northern California
- Mahmoud Habeeb
- Department of Ophthalmology, Erasmus Medical Center GD
- Sionne E. M. Lucas
- Menzies Institute for Medical Research, University of Tasmania
- Srujana Sahebjada
- Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital
- Nikolas Pontikos
- UCL Institute of Ophthalmology
- Karla E. Rojas Lopez
- UCL Institute of Ophthalmology
- Anthony P. Khawaja
- UCL Institute of Ophthalmology
- Manir Ali
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Lubica Dudakova
- Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague
- Pavlina Skalicka
- Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague
- Bart T. H. Van Dooren
- Department of Ophthalmology, Erasmus Medical Center GD
- Annette J. M. Geerards
- The Rotterdam Eye Hospital
- Christoph W. Haudum
- Division of Endocrinology and Diabetology, Endocrinology Lab Platform, Department of Internal Medicine, Medical University of Graz
- Valeria Lo Faro
- Department of Ophthalmology, University Medical Center Groningen (UMCG)
- Abi Tenen
- Vision Eye Institute
- Mark J. Simcoe
- Section of Ophthalmology, School of Life Course Sciences, King’s College London
- Karina Patasova
- Section of Ophthalmology, School of Life Course Sciences, King’s College London
- Darioush Yarrand
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Jie Yin
- Division of Research, Kaiser Permanente Northern California
- Salina Siddiqui
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Aine Rice
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Layal Abi Farraj
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Yii-Der Ida Chen
- Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center
- Jugnoo S. Rahi
- UCL Great Ormond Street Hospital Institute of Child Health
- Ronald M. Krauss
- Oakland Research Institute
- Elisabeth Theusch
- Oakland Research Institute
- Jac C. Charlesworth
- Menzies Institute for Medical Research, University of Tasmania
- Loretta Szczotka-Flynn
- Department of Ophthalmology, Case Western Reserve University
- Carmel Toomes
- Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
- Magda A. Meester-Smoor
- Department of Ophthalmology, Erasmus Medical Center GD
- Andrea J. Richardson
- Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital
- Paul A. Mitchell
- Centre for Vision Research, Department of Ophthalmology, Westmead Institute for Medical Research, University of Sydney
- Kent D. Taylor
- Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center
- Ronald B. Melles
- Division of Research, Kaiser Permanente Northern California
- Anthony J. Aldave
- The Jules Stein Institute, University of California Los Angeles
- Richard A. Mills
- Department of Ophthalmology, Flinders University
- Ke Cao
- Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital
- Elsie Chan
- Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital
- Mark D. Daniell
- Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital
- Jie Jin Wang
- Health Services and Systems Research, Duke-NUS Medical School
- Jerome I. Rotter
- Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center
- Alex W. Hewitt
- Menzies Institute for Medical Research, University of Tasmania
- Stuart MacGregor
- QIMR Berghofer Medical Research Institute
- Caroline C. W. Klaver
- Department of Ophthalmology, Erasmus Medical Center GD
- Wishal D. Ramdas
- Department of Ophthalmology, Erasmus Medical Center GD
- Jamie E. Craig
- Menzies Institute for Medical Research, University of Tasmania
- Sudha K. Iyengar
- Department of Ophthalmology, Case Western Reserve University
- David O’Brart
- Section of Ophthalmology, School of Life Course Sciences, King’s College London
- Eric Jorgenson
- Division of Research, Kaiser Permanente Northern California
- Paul N. Baird
- Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital
- Yaron S. Rabinowitz
- The Cornea Eye Institute
- Kathryn P. Burdon
- Menzies Institute for Medical Research, University of Tasmania
- Chris J. Hammond
- Section of Ophthalmology, School of Life Course Sciences, King’s College London
- Stephen J. Tuft
- UCL Institute of Ophthalmology
- Pirro G. Hysi
- Section of Ophthalmology, School of Life Course Sciences, King’s College London
- DOI
- https://doi.org/10.1038/s42003-021-01784-0
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 13
Abstract
Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel, and show that the genes in these regions implicate genetic pathways involved in collagen matrix integrity and cell differentiation.
