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Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h(2) = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-e...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733496/ https://www.ncbi.nlm.nih.gov/pubmed/33311586 http://dx.doi.org/10.1038/s42003-020-01421-2 |
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| author | Yonova-Doing, Ekaterina Zhao, Wanting Igo, Robert P. Wang, Chaolong Sundaresan, Periasamy Lee, Kristine E. Jun, Gyungah R. Alves, Alexessander Couto Chai, Xiaoran Chan, Anita S. Y. Lee, Mei Chin Fong, Allan Tan, Ava G. Khor, Chiea Chuen Chew, Emily Y. Hysi, Pirro G. Fan, Qiao Chua, Jacqueline Chung, Jaeyoon Liao, Jiemin Colijn, Johanna M. Burdon, Kathryn P. Fritsche, Lars G. Swift, Maria K. Hilmy, Maryam H. Chee, Miao Ling Tedja, Milly Bonnemaijer, Pieter W. M. Gupta, Preeti Tan, Queenie S. Li, Zheng Vithana, Eranga N. Ravindran, Ravilla D. Chee, Soon-Phaik Shi, Yuan Liu, Wenting Su, Xinyi Sim, Xueling Shen, Yang Wang, Ya Xing Li, Hengtong Tham, Yih-Chung Teo, Yik Ying Aung, Tin Small, Kerrin S. Mitchell, Paul Jonas, Jost B. Wong, Tien Yin Fletcher, Astrid E. Klaver, Caroline C. W. Klein, Barbara E. K. Wang, Jie Jin Iyengar, Sudha K. Hammond, Christopher J. Cheng, Ching-Yu |
| author_facet | Yonova-Doing, Ekaterina Zhao, Wanting Igo, Robert P. Wang, Chaolong Sundaresan, Periasamy Lee, Kristine E. Jun, Gyungah R. Alves, Alexessander Couto Chai, Xiaoran Chan, Anita S. Y. Lee, Mei Chin Fong, Allan Tan, Ava G. Khor, Chiea Chuen Chew, Emily Y. Hysi, Pirro G. Fan, Qiao Chua, Jacqueline Chung, Jaeyoon Liao, Jiemin Colijn, Johanna M. Burdon, Kathryn P. Fritsche, Lars G. Swift, Maria K. Hilmy, Maryam H. Chee, Miao Ling Tedja, Milly Bonnemaijer, Pieter W. M. Gupta, Preeti Tan, Queenie S. Li, Zheng Vithana, Eranga N. Ravindran, Ravilla D. Chee, Soon-Phaik Shi, Yuan Liu, Wenting Su, Xinyi Sim, Xueling Shen, Yang Wang, Ya Xing Li, Hengtong Tham, Yih-Chung Teo, Yik Ying Aung, Tin Small, Kerrin S. Mitchell, Paul Jonas, Jost B. Wong, Tien Yin Fletcher, Astrid E. Klaver, Caroline C. W. Klein, Barbara E. K. Wang, Jie Jin Iyengar, Sudha K. Hammond, Christopher J. Cheng, Ching-Yu |
| author_sort | Yonova-Doing, Ekaterina |
| collection | PubMed |
| 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 (h(2) = 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. |
| format | Online Article Text |
| id | pubmed-7733496 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-77334962020-12-17 Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract Yonova-Doing, Ekaterina Zhao, Wanting Igo, Robert P. Wang, Chaolong Sundaresan, Periasamy Lee, Kristine E. Jun, Gyungah R. Alves, Alexessander Couto Chai, Xiaoran Chan, Anita S. Y. Lee, Mei Chin Fong, Allan Tan, Ava G. Khor, Chiea Chuen Chew, Emily Y. Hysi, Pirro G. Fan, Qiao Chua, Jacqueline Chung, Jaeyoon Liao, Jiemin Colijn, Johanna M. Burdon, Kathryn P. Fritsche, Lars G. Swift, Maria K. Hilmy, Maryam H. Chee, Miao Ling Tedja, Milly Bonnemaijer, Pieter W. M. Gupta, Preeti Tan, Queenie S. Li, Zheng Vithana, Eranga N. Ravindran, Ravilla D. Chee, Soon-Phaik Shi, Yuan Liu, Wenting Su, Xinyi Sim, Xueling Shen, Yang Wang, Ya Xing Li, Hengtong Tham, Yih-Chung Teo, Yik Ying Aung, Tin Small, Kerrin S. Mitchell, Paul Jonas, Jost B. Wong, Tien Yin Fletcher, Astrid E. Klaver, Caroline C. W. Klein, Barbara E. K. Wang, Jie Jin Iyengar, Sudha K. Hammond, Christopher J. Cheng, Ching-Yu Commun Biol Article Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h(2) = 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. Nature Publishing Group UK 2020-12-11 /pmc/articles/PMC7733496/ /pubmed/33311586 http://dx.doi.org/10.1038/s42003-020-01421-2 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Article Yonova-Doing, Ekaterina Zhao, Wanting Igo, Robert P. Wang, Chaolong Sundaresan, Periasamy Lee, Kristine E. Jun, Gyungah R. Alves, Alexessander Couto Chai, Xiaoran Chan, Anita S. Y. Lee, Mei Chin Fong, Allan Tan, Ava G. Khor, Chiea Chuen Chew, Emily Y. Hysi, Pirro G. Fan, Qiao Chua, Jacqueline Chung, Jaeyoon Liao, Jiemin Colijn, Johanna M. Burdon, Kathryn P. Fritsche, Lars G. Swift, Maria K. Hilmy, Maryam H. Chee, Miao Ling Tedja, Milly Bonnemaijer, Pieter W. M. Gupta, Preeti Tan, Queenie S. Li, Zheng Vithana, Eranga N. Ravindran, Ravilla D. Chee, Soon-Phaik Shi, Yuan Liu, Wenting Su, Xinyi Sim, Xueling Shen, Yang Wang, Ya Xing Li, Hengtong Tham, Yih-Chung Teo, Yik Ying Aung, Tin Small, Kerrin S. Mitchell, Paul Jonas, Jost B. Wong, Tien Yin Fletcher, Astrid E. Klaver, Caroline C. W. Klein, Barbara E. K. Wang, Jie Jin Iyengar, Sudha K. Hammond, Christopher J. Cheng, Ching-Yu Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title_full | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title_fullStr | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title_full_unstemmed | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title_short | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
| title_sort | common variants in sox-2 and congenital cataract genes contribute to age-related nuclear cataract |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733496/ https://www.ncbi.nlm.nih.gov/pubmed/33311586 http://dx.doi.org/10.1038/s42003-020-01421-2 |
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