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| Verfasst von: | Yonova-Doing, Ekaterina [VerfasserIn]  |
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| | Zhao, Wanting [VerfasserIn] |
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| | Igo, Robert P. [VerfasserIn] |
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| | Wang, Chaolong [VerfasserIn] |
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| | Sundaresan, Periasamy [VerfasserIn] |
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| | Lee, Kristine E. [VerfasserIn] |
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| | Jun, Gyungah R. [VerfasserIn] |
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| | Alves, Alexessander Couto [VerfasserIn] |
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| | Chai, Xiaoran [VerfasserIn] |
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| | Chan, Anita S. Y. [VerfasserIn] |
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| | Lee, Mei Chin [VerfasserIn] |
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| | Fong, Allan [VerfasserIn] |
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| | Tan, Ava G. [VerfasserIn] |
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| | Khor, Chiea Chuen [VerfasserIn] |
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| | Chew, Emily Y. [VerfasserIn] |
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| | Hysi, Pirro G. [VerfasserIn] |
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| | Fan, Qiao [VerfasserIn] |
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| | Chua, Jacqueline [VerfasserIn] |
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| | Chung, Jaeyoon [VerfasserIn] |
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| | Liao, Jiemin [VerfasserIn] |
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| | Colijn, Johanna M. [VerfasserIn] |
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| | Burdon, Kathryn [VerfasserIn] |
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| | Fritsche, Lars G. [VerfasserIn] |
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| | Swift, Maria K. [VerfasserIn] |
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| | Hilmy, Maryam H. [VerfasserIn] |
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| | Chee, Miao Ling [VerfasserIn] |
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| | Tedja, Milly [VerfasserIn] |
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| | Bonnemaijer, Pieter W. M. [VerfasserIn] |
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| | Gupta, Preeti [VerfasserIn] |
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| | Tan, Queenie S. [VerfasserIn] |
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| | Li, Zheng [VerfasserIn] |
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| | Vithana, Eranga N. [VerfasserIn] |
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| | Ravindran, Ravilla D. [VerfasserIn] |
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| | Chee, Soon-Phaik [VerfasserIn] |
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| | Shi, Yuan [VerfasserIn] |
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| | Liu, Wenting [VerfasserIn] |
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| | Su, Xinyi [VerfasserIn] |
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| | Sim, Xueling [VerfasserIn] |
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| | Shen, Yang [VerfasserIn] |
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| | Wang, Ya Xing [VerfasserIn] |
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| | Li, Hengtong [VerfasserIn] |
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| | Tham, Yih-Chung [VerfasserIn] |
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| | Teo, Yik Ying [VerfasserIn] |
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| | Aung, Tin [VerfasserIn] |
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| | Small, Kerrin S. [VerfasserIn] |
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| | Mitchell, Paul [VerfasserIn] |
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| | Jonas, Jost B. [VerfasserIn] |
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| | Wong, Tien Yin [VerfasserIn] |
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| | Fletcher, Astrid E. [VerfasserIn] |
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| | Klaver, Caroline C. W. [VerfasserIn] |
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| | Klein, Barbara E. K. [VerfasserIn] |
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| | Wang, Jie Jin [VerfasserIn] |
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| | Iyengar, Sudha K. [VerfasserIn] |
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| | Hammond, Christopher J. [VerfasserIn] |
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| | Cheng, Ching-Yu [VerfasserIn] |
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| Titel: | Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract |
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| Verf.angabe: | Ekaterina Yonova-Doing et al. |
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| E-Jahr: | 2020 |
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| Jahr: | 11 December 2020 |
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| Umfang: | 8 S. |
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| Fussnoten: | 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 ; Gesehen am 17.01.2024 |
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| Titel Quelle: | Enthalten in: Communications biology |
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| Ort Quelle: | London : Springer Nature, 2018 |
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| Jahr Quelle: | 2020 |
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| Band/Heft Quelle: | 3(2020), Artikel-ID 755, Seite 1-8 |
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| ISSN Quelle: | 2399-3642 |
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| 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 × 10−19), 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. |
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| DOI: | doi:10.1038/s42003-020-01421-2 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1038/s42003-020-01421-2 |
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| | kostenfrei: Volltext: https://www.nature.com/articles/s42003-020-01421-2 |
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| | DOI: https://doi.org/10.1038/s42003-020-01421-2 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Genome-wide association studies |
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| | Lens diseases |
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| K10plus-PPN: | 1878364928 |
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| Verknüpfungen: | → Zeitschrift |
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Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract / Yonova-Doing, Ekaterina [VerfasserIn]; 11 December 2020 (Online-Ressource)
