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Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Authors :
Yonova-Doing, E. (Ekaterina)
Zhao, W. (Wanting)
Igo Jr., R.P. (Robert)
Wang, C. (Chunliang)
Sundaresan, P. (Periasamy)
Lee, K.E. (Kristine)
Jun, G.R. (Gyungah R.)
Alves, A.C. (Alexessander Couto)
Chai, X. (Xiaoran)
Chan, A.S.Y. (Anita S. Y.)
Lee, M.C. (Mei Chin)
Fong, A. (Allan)
Tan, A.G. (Ava G.)
Khor, C.C.
Chew, E.Y. (Emily Y.)
Hysi, P.G. (Pirro G.)
Fan, Q. (Qiao)
Chua, J. (Jacqueline)
Chung, J. (Jaeyoon)
Liao, J. (Jiemin)
Colijn, J.M. (Johanna)
Burdon, K.P. (Kathryn P.)
Fritsche, L.G. (Lars)
Swift, M.K. (Maria K.)
Hilmy, M.H. (Maryam H.)
Chee, M.L. (Miao Ling)
Tedja, M. (Milly)
Bonnemaijer, P.W.M. (Pieter)
Gupta, P. (Preeti)
Tan, Q.S. (Queenie S.)
Li, Z. (Zheng)
Vithana, E.N. (Eranga)
Ravindran, R.D. (Ravilla D.)
Chee, S.-P. (Soon-Phaik)
Shi, Y. (Yuan)
Liu, W. (Wenting)
Su, X. (Xinyi)
Sim, X. (Xueling)
Shen, Y. (Yang)
Wang, Y.X. (Ya Xing)
Li, H. (Hengtong)
Tham, Y.-C. (Yih-Chung)
Teo, Y.Y. (Yik Ying)
Aung, T. (Tin)
Small, K.S. (Kerrin S.)
Mitchell, P. (Paul)
Jonas, J.B. (Jost B.)
Wong, T.Y. (Tien Yin)
Fletcher, A. (Astrid)
Klaver, C.C.W. (Caroline)
Klein, B.E.K. (Barbara E. K.)
Wang, J.J. (Jie Jin)
Iyengar, S.K. (Sudha K.)
Hammond, C.J. (Christopher J.)
Cheng, C.-Y. (Ching-Yu)
Yonova-Doing, E. (Ekaterina)
Zhao, W. (Wanting)
Igo Jr., R.P. (Robert)
Wang, C. (Chunliang)
Sundaresan, P. (Periasamy)
Lee, K.E. (Kristine)
Jun, G.R. (Gyungah R.)
Alves, A.C. (Alexessander Couto)
Chai, X. (Xiaoran)
Chan, A.S.Y. (Anita S. Y.)
Lee, M.C. (Mei Chin)
Fong, A. (Allan)
Tan, A.G. (Ava G.)
Khor, C.C.
Chew, E.Y. (Emily Y.)
Hysi, P.G. (Pirro G.)
Fan, Q. (Qiao)
Chua, J. (Jacqueline)
Chung, J. (Jaeyoon)
Liao, J. (Jiemin)
Colijn, J.M. (Johanna)
Burdon, K.P. (Kathryn P.)
Fritsche, L.G. (Lars)
Swift, M.K. (Maria K.)
Hilmy, M.H. (Maryam H.)
Chee, M.L. (Miao Ling)
Tedja, M. (Milly)
Bonnemaijer, P.W.M. (Pieter)
Gupta, P. (Preeti)
Tan, Q.S. (Queenie S.)
Li, Z. (Zheng)
Vithana, E.N. (Eranga)
Ravindran, R.D. (Ravilla D.)
Chee, S.-P. (Soon-Phaik)
Shi, Y. (Yuan)
Liu, W. (Wenting)
Su, X. (Xinyi)
Sim, X. (Xueling)
Shen, Y. (Yang)
Wang, Y.X. (Ya Xing)
Li, H. (Hengtong)
Tham, Y.-C. (Yih-Chung)
Teo, Y.Y. (Yik Ying)
Aung, T. (Tin)
Small, K.S. (Kerrin S.)
Mitchell, P. (Paul)
Jonas, J.B. (Jost B.)
Wong, T.Y. (Tien Yin)
Fletcher, A. (Astrid)
Klaver, C.C.W. (Caroline)
Klein, B.E.K. (Barbara E. K.)
Wang, J.J. (Jie Jin)
Iyengar, S.K. (Sudha K.)
Hammond, C.J. (Christopher J.)
Cheng, C.-Y. (Ching-Yu)
Publication Year :
2020

Abstract

Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10

Details

Database :
OAIster
Notes :
application/pdf, Communications Biology vol. 3 no. 1, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1236257072
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1038.s42003-020-01421-2
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