Communications Biology (Dec 2020)
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
- Ekaterina Yonova-Doing,
- Wanting Zhao,
- Robert P. Igo,
- Chaolong Wang,
- Periasamy Sundaresan,
- Kristine E. Lee,
- Gyungah R. Jun,
- Alexessander Couto Alves,
- Xiaoran Chai,
- Anita S. Y. Chan,
- Mei Chin Lee,
- Allan Fong,
- Ava G. Tan,
- Chiea Chuen Khor,
- Emily Y. Chew,
- Pirro G. Hysi,
- Qiao Fan,
- Jacqueline Chua,
- Jaeyoon Chung,
- Jiemin Liao,
- Johanna M. Colijn,
- Kathryn P. Burdon,
- Lars G. Fritsche,
- Maria K. Swift,
- Maryam H. Hilmy,
- Miao Ling Chee,
- Milly Tedja,
- Pieter W. M. Bonnemaijer,
- Preeti Gupta,
- Queenie S. Tan,
- Zheng Li,
- Eranga N. Vithana,
- Ravilla D. Ravindran,
- Soon-Phaik Chee,
- Yuan Shi,
- Wenting Liu,
- Xinyi Su,
- Xueling Sim,
- Yang Shen,
- Ya Xing Wang,
- Hengtong Li,
- Yih-Chung Tham,
- Yik Ying Teo,
- Tin Aung,
- Kerrin S. Small,
- Paul Mitchell,
- Jost B. Jonas,
- Tien Yin Wong,
- Astrid E. Fletcher,
- Caroline C. W. Klaver,
- Barbara E. K. Klein,
- Jie Jin Wang,
- Sudha K. Iyengar,
- Christopher J. Hammond,
- Ching-Yu Cheng
Affiliations
- Ekaterina Yonova-Doing
- Department of Twin Research and Genetic Epidemiology, The School of Life Course Sciences, King’s College London
- Wanting Zhao
- Singapore Eye Research Institute, Singapore National Eye Center
- Robert P. Igo
- Epidemiology and Biostatistics, Case Western Reserve University
- Chaolong Wang
- Computational and Systems Biology, Genome Institute of Singapore
- Periasamy Sundaresan
- Department of Genetics, Aravind Medical Research Foundation
- Kristine E. Lee
- Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health
- Gyungah R. Jun
- Department of Medicine (Biomedical Genetics), Boston University School of Medicine
- Alexessander Couto Alves
- Department of Twin Research and Genetic Epidemiology, The School of Life Course Sciences, King’s College London
- Xiaoran Chai
- Singapore Eye Research Institute, Singapore National Eye Center
- Anita S. Y. Chan
- Singapore Eye Research Institute, Singapore National Eye Center
- Mei Chin Lee
- Singapore Eye Research Institute, Singapore National Eye Center
- Allan Fong
- Singapore Eye Research Institute, Singapore National Eye Center
- Ava G. Tan
- Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney
- Chiea Chuen Khor
- Singapore Eye Research Institute, Singapore National Eye Center
- Emily Y. Chew
- National Eye Institute, National Institutes of Health
- Pirro G. Hysi
- Department of Twin Research and Genetic Epidemiology, The School of Life Course Sciences, King’s College London
- Qiao Fan
- Singapore Eye Research Institute, Singapore National Eye Center
- Jacqueline Chua
- Singapore Eye Research Institute, Singapore National Eye Center
- Jaeyoon Chung
- Histology, Department of Pathology, Singapore General Hospital
- Jiemin Liao
- Singapore Eye Research Institute, Singapore National Eye Center
- Johanna M. Colijn
- Department of Epidemiology, Erasmus Medical Centre
- Kathryn P. Burdon
- Menzies Institute for Medical Research, University of Tasmania
- Lars G. Fritsche
- Center for Statistical Genetics, Department of Biostatistics, University of Michigan
- Maria K. Swift
- Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health
- Maryam H. Hilmy
- Department of Anatomical Pathology and Cytology, Singapore General Hospital
- Miao Ling Chee
- Singapore Eye Research Institute, Singapore National Eye Center
- Milly Tedja
- Department of Epidemiology, Erasmus Medical Centre
- Pieter W. M. Bonnemaijer
- Department of Epidemiology, Erasmus Medical Centre
- Preeti Gupta
- Singapore Eye Research Institute, Singapore National Eye Center
- Queenie S. Tan
- Institute of Molecular and Cell Biology
- Zheng Li
- Division of Human Genetics, Genome Institute of Singapore
- Eranga N. Vithana
- Singapore Eye Research Institute, Singapore National Eye Center
- Ravilla D. Ravindran
- Aravind Eye Hospital
- Soon-Phaik Chee
- Singapore Eye Research Institute, Singapore National Eye Center
- Yuan Shi
- Singapore Eye Research Institute, Singapore National Eye Center
- Wenting Liu
- Division of Human Genetics, Genome Institute of Singapore
- Xinyi Su
- Singapore Eye Research Institute, Singapore National Eye Center
- Xueling Sim
- Saw Swee Hock School of Public Health, National University of Singapore
- Yang Shen
- Computational and Systems Biology, Genome Institute of Singapore
- Ya Xing Wang
- Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University
- Hengtong Li
- Singapore Eye Research Institute, Singapore National Eye Center
- Yih-Chung Tham
- Singapore Eye Research Institute, Singapore National Eye Center
- Yik Ying Teo
- Saw Swee Hock School of Public Health, National University of Singapore
- Tin Aung
- Singapore Eye Research Institute, Singapore National Eye Center
- Kerrin S. Small
- Department of Twin Research and Genetic Epidemiology, The School of Life Course Sciences, King’s College London
- Paul Mitchell
- Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney
- Jost B. Jonas
- Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University
- Tien Yin Wong
- Singapore Eye Research Institute, Singapore National Eye Center
- Astrid E. Fletcher
- Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Seegartenklinik Heidelberg
- Caroline C. W. Klaver
- Department of Epidemiology, Erasmus Medical Centre
- Barbara E. K. Klein
- Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health
- Jie Jin Wang
- Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney
- Sudha K. Iyengar
- Epidemiology and Biostatistics, Case Western Reserve University
- Christopher J. Hammond
- Department of Twin Research and Genetic Epidemiology, The School of Life Course Sciences, King’s College London
- Ching-Yu Cheng
- Singapore Eye Research Institute, Singapore National Eye Center
- DOI
- https://doi.org/10.1038/s42003-020-01421-2
- Journal volume & issue
-
Vol. 3,
no. 1
pp. 1 – 8
Abstract
Here, the authors report a multi-ethnic genome wide association meta-analysis of 12 studies from the International Cataract Genetics Consortium. They find six new loci associated with age-related nuclear cataract, in addition to replicating the association at CRYAA, and suggest a strong genetic link between age-related nuclear and congenital cataracts.
