> Details
Yonova-Doing, Ekaterina
[Author];
Zhao, Wanting
[Author];
Igo, Robert P.
[Author];
Wang, Chaolong
[Author];
Sundaresan, Periasamy
[Author];
Lee, Kristine E.
[Author];
Jun, Gyungah R.
[Author];
Alves, Alexessander Couto
[Author];
Chai, Xiaoran
[Author];
Chan, Anita S. Y.
[Author];
Lee, Mei Chin
[Author];
Fong, Allan
[Author];
Tan, Ava G.
[Author];
Khor, Chiea Chuen
[Author];
Chew, Emily Y.
[Author];
Hysi, Pirro G.
[Author];
Fan, Qiao
[Author];
Chua, Jacqueline
[Author];
Chung, Jaeyoon
[Author];
Liao, Jiemin
[Author];
Colijn, Johanna M.
[Author];
Burdon, Kathryn P.
[Author];
Fritsche, Lars G.
[Author];
Swift, Maria K.
[Author];
[...]
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
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- Media type: E-Article
- Title: Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
- Contributor: Yonova-Doing, Ekaterina [VerfasserIn]; Zhao, Wanting [VerfasserIn]; Igo, Robert P. [VerfasserIn]; Wang, Chaolong [VerfasserIn]; Sundaresan, Periasamy [VerfasserIn]; Lee, Kristine E. [VerfasserIn]; Jun, Gyungah R. [VerfasserIn]; Alves, Alexessander Couto [VerfasserIn]; Chai, Xiaoran [VerfasserIn]; Chan, Anita S. Y. [VerfasserIn]; Lee, Mei Chin [VerfasserIn]; Fong, Allan [VerfasserIn]; Tan, Ava G. [VerfasserIn]; Khor, Chiea Chuen [VerfasserIn]; Chew, Emily Y. [VerfasserIn]; Hysi, Pirro G. [VerfasserIn]; Fan, Qiao [VerfasserIn]; Chua, Jacqueline [VerfasserIn]; Chung, Jaeyoon [VerfasserIn]; Liao, Jiemin [VerfasserIn]; Colijn, Johanna M. [VerfasserIn]; Burdon, Kathryn P. [VerfasserIn]; Fritsche, Lars G. [VerfasserIn]; Swift, Maria K. [VerfasserIn]; Hilmy, Maryam H. [VerfasserIn]; Chee, Miao Ling [VerfasserIn]; Tedja, Milly [VerfasserIn]; Bonnemaijer, Pieter W. M. [VerfasserIn]; Gupta, Preeti [VerfasserIn]; Tan, Queenie S. [VerfasserIn]; Li, Zheng [VerfasserIn]; Vithana, Eranga N. [VerfasserIn]; Ravindran, Ravilla D. [VerfasserIn]; Chee, Soon-Phaik [VerfasserIn]; Shi, Yuan [VerfasserIn]; Liu, Wenting [VerfasserIn]; Su, Xinyi [VerfasserIn]; Sim, Xueling [VerfasserIn]; Shen, Yang [VerfasserIn]; Wang, Ya Xing [VerfasserIn]; Li, Hengtong [VerfasserIn]; Tham, Yih-Chung [VerfasserIn]; Teo, Yik Ying [VerfasserIn]; Aung, Tin [VerfasserIn]; Small, Kerrin S. [VerfasserIn]; Mitchell, Paul [VerfasserIn]; Jonas, Jost B. [VerfasserIn]; Wong, Tien Yin [VerfasserIn]; Fletcher, Astrid E. [VerfasserIn]; Klaver, Caroline C. W. [VerfasserIn]; Klein, Barbara E. K. [VerfasserIn]; Wang, Jie Jin [VerfasserIn]; Iyengar, Sudha K. [VerfasserIn]; Hammond, Christopher J. [VerfasserIn]; Cheng, Ching-Yu [VerfasserIn]
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imprint:
11 December 2020
- Published in: Communications biology ; 3(2020), 1, Seite 1-8
- Language: English
- DOI: 10.1038/s42003-020-01421-2
- ISSN: 2399-3642
- Identifier:
- Keywords: Genome-wide association studies ; Lens diseases
- Origination:
-
Footnote:
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
- Description: 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 × 10−19), TMPRSS5 (rs4936279, P = 2.5 × 10−10), LINC01412 (rs16823886, P = 1.3 × 10−9), GLTSCR1 (rs1005911, P = 9.8 × 10−9), and COMMD1 (rs62149908, P = 1.2 × 10−8). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye.
- Access State: Open Access