Cover Image

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 (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-eth...

Full description

Saved in:
Bibliographic Details
Main Authors: 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 (Author) , Fritsche, Lars G. (Author) , Swift, Maria K. (Author) , Hilmy, Maryam H. (Author) , Chee, Miao Ling (Author) , Tedja, Milly (Author) , Bonnemaijer, Pieter W. M. (Author) , Gupta, Preeti (Author) , Tan, Queenie S. (Author) , Li, Zheng (Author) , Vithana, Eranga N. (Author) , Ravindran, Ravilla D. (Author) , Chee, Soon-Phaik (Author) , Shi, Yuan (Author) , Liu, Wenting (Author) , Su, Xinyi (Author) , Sim, Xueling (Author) , Shen, Yang (Author) , Wang, Ya Xing (Author) , Li, Hengtong (Author) , Tham, Yih-Chung (Author) , Teo, Yik Ying (Author) , Aung, Tin (Author) , Small, Kerrin S. (Author) , Mitchell, Paul (Author) , Jonas, Jost B. (Author) , Wong, Tien Yin (Author) , Fletcher, Astrid E. (Author) , Klaver, Caroline C. W. (Author) , Klein, Barbara E. K. (Author) , Wang, Jie Jin (Author) , Iyengar, Sudha K. (Author) , Hammond, Christopher J. (Author) , Cheng, Ching-Yu (Author)
Format: Article (Journal)
Language:English
Published: 11 December 2020
In: Communications biology
Year: 2020, Volume: 3, Pages: 1-8
ISSN:2399-3642
DOI:10.1038/s42003-020-01421-2
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s42003-020-01421-2
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s42003-020-01421-2
Get full text
Author Notes:Ekaterina Yonova-Doing et al.

MARC

LEADER 00000caa a2200000 c 4500
001 1878364928
003 DE-627
005 20250325050347.0
007 cr uuu---uuuuu
008 240117s2020 xx |||||o 00| ||eng c
024 7 |a 10.1038/s42003-020-01421-2  |2 doi 
035 |a (DE-627)1878364928 
035 |a (DE-599)KXP1878364928 
035 |a (OCoLC)1425218118 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Yonova-Doing, Ekaterina  |e VerfasserIn  |0 (DE-588)1316268713  |0 (DE-627)1878365959  |4 aut 
245 1 0 |a Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract  |c Ekaterina Yonova-Doing et al. 
264 1 |c 11 December 2020 
300 |a 8 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a 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 
500 |a Gesehen am 17.01.2024 
520 |a 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. 
650 4 |a Genome-wide association studies 
650 4 |a Lens diseases 
700 1 |a Zhao, Wanting  |e VerfasserIn  |4 aut 
700 1 |a Igo, Robert P.  |e VerfasserIn  |4 aut 
700 1 |a Wang, Chaolong  |e VerfasserIn  |4 aut 
700 1 |a Sundaresan, Periasamy  |e VerfasserIn  |4 aut 
700 1 |a Lee, Kristine E.  |e VerfasserIn  |4 aut 
700 1 |a Jun, Gyungah R.  |e VerfasserIn  |4 aut 
700 1 |a Alves, Alexessander Couto  |e VerfasserIn  |4 aut 
700 1 |a Chai, Xiaoran  |e VerfasserIn  |4 aut 
700 1 |a Chan, Anita S. Y.  |e VerfasserIn  |4 aut 
700 1 |a Lee, Mei Chin  |e VerfasserIn  |4 aut 
700 1 |a Fong, Allan  |e VerfasserIn  |4 aut 
700 1 |a Tan, Ava G.  |e VerfasserIn  |4 aut 
700 1 |8 1\p  |a Khor, Chiea Chuen  |e VerfasserIn  |0 (DE-588)1185543783  |0 (DE-627)1664907882  |4 aut 
700 1 |8 2\p  |a Chew, Emily Y.  |e VerfasserIn  |0 (DE-588)1348623586  |0 (DE-627)1908848030  |4 aut 
700 1 |a Hysi, Pirro G.  |e VerfasserIn  |4 aut 
700 1 |a Fan, Qiao  |e VerfasserIn  |4 aut 
700 1 |a Chua, Jacqueline  |e VerfasserIn  |4 aut 
700 1 |a Chung, Jaeyoon  |e VerfasserIn  |4 aut 
700 1 |a Liao, Jiemin  |e VerfasserIn  |4 aut 
700 1 |a Colijn, Johanna M.  |e VerfasserIn  |4 aut 
700 1 |8 3\p  |a Burdon, Kathryn  |e VerfasserIn  |0 (DE-588)1260206815  |0 (DE-627)1859276539  |4 aut 
700 1 |8 4\p  |a Fritsche, Lars G.  |e VerfasserIn  |0 (DE-588)1159513724  |0 (DE-627)1022169769  |0 (DE-576)505004771  |4 aut 
700 1 |a Swift, Maria K.  |e VerfasserIn  |4 aut 
700 1 |a Hilmy, Maryam H.  |e VerfasserIn  |4 aut 
700 1 |a Chee, Miao Ling  |e VerfasserIn  |4 aut 
700 1 |a Tedja, Milly  |e VerfasserIn  |4 aut 
700 1 |a Bonnemaijer, Pieter W. M.  |e VerfasserIn  |4 aut 
700 1 |a Gupta, Preeti  |e VerfasserIn  |4 aut 
700 1 |a Tan, Queenie S.  |e VerfasserIn  |4 aut 
700 1 |8 5\p  |a Li, Zheng  |e VerfasserIn  |0 (DE-588)1151469335  |0 (DE-627)101182051X  |0 (DE-576)497802473  |4 aut 
700 1 |a Vithana, Eranga N.  |e VerfasserIn  |4 aut 
700 1 |a Ravindran, Ravilla D.  |e VerfasserIn  |4 aut 
700 1 |a Chee, Soon-Phaik  |e VerfasserIn  |4 aut 
700 1 |a Shi, Yuan  |e VerfasserIn  |4 aut 
700 1 |a Liu, Wenting  |e VerfasserIn  |4 aut 
700 1 |a Su, Xinyi  |e VerfasserIn  |4 aut 
700 1 |a Sim, Xueling  |e VerfasserIn  |4 aut 
700 1 |a Shen, Yang  |e VerfasserIn  |4 aut 
700 1 |a Wang, Ya Xing  |e VerfasserIn  |4 aut 
700 1 |a Li, Hengtong  |e VerfasserIn  |4 aut 
700 1 |8 6\p  |a Tham, Yih-Chung  |e VerfasserIn  |0 (DE-588)1232245836  |0 (DE-627)1755989210  |4 aut 
700 1 |a Teo, Yik Ying  |e VerfasserIn  |4 aut 
700 1 |a Aung, Tin  |e VerfasserIn  |4 aut 
700 1 |a Small, Kerrin S.  |e VerfasserIn  |4 aut 
700 1 |a Mitchell, Paul  |e VerfasserIn  |4 aut 
700 1 |a Jonas, Jost B.  |d 1958-  |e VerfasserIn  |0 (DE-588)1028286732  |0 (DE-627)730536823  |0 (DE-576)37578537X  |4 aut 
700 1 |a Wong, Tien Yin  |e VerfasserIn  |4 aut 
700 1 |a Fletcher, Astrid E.  |e VerfasserIn  |4 aut 
700 1 |a Klaver, Caroline C. W.  |e VerfasserIn  |4 aut 
700 1 |a Klein, Barbara E. K.  |e VerfasserIn  |4 aut 
700 1 |a Wang, Jie Jin  |e VerfasserIn  |4 aut 
700 1 |a Iyengar, Sudha K.  |e VerfasserIn  |4 aut 
700 1 |a Hammond, Christopher J.  |e VerfasserIn  |4 aut 
700 1 |a Cheng, Ching-Yu  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Communications biology  |d London : Springer Nature, 2018  |g 3(2020), Artikel-ID 755, Seite 1-8  |h Online-Ressource  |w (DE-627)101369080X  |w (DE-600)2919698-X  |w (DE-576)499739132  |x 2399-3642  |7 nnas  |a Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract 
773 1 8 |g volume:3  |g year:2020  |g elocationid:755  |g pages:1-8  |g extent:8  |a Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract 
856 4 0 |u https://doi.org/10.1038/s42003-020-01421-2  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.nature.com/articles/s42003-020-01421-2  |x Verlag  |z kostenfrei  |3 Volltext 
883 |8 1\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 2\p  |a cgwrk  |d 20250301  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 3\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 4\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 5\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 6\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20240117 
993 |a Article 
994 |a 2020 
998 |g 1028286732  |a Jonas, Jost B.  |m 1028286732:Jonas, Jost B.  |d 60000  |e 60000PJ1028286732  |k 0/60000/  |p 47 
999 |a KXP-PPN1878364928  |e 4460115522 
BIB |a Y 
SER |a journal 
JSO |a {"name":{"displayForm":["Ekaterina Yonova-Doing et al."]},"person":[{"family":"Yonova-Doing","roleDisplay":"VerfasserIn","role":"aut","given":"Ekaterina","display":"Yonova-Doing, Ekaterina"},{"family":"Zhao","roleDisplay":"VerfasserIn","role":"aut","display":"Zhao, Wanting","given":"Wanting"},{"display":"Igo, Robert P.","given":"Robert P.","family":"Igo","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Chaolong","display":"Wang, Chaolong","role":"aut","roleDisplay":"VerfasserIn","family":"Wang"},{"given":"Periasamy","display":"Sundaresan, Periasamy","family":"Sundaresan","role":"aut","roleDisplay":"VerfasserIn"},{"given":"Kristine E.","display":"Lee, Kristine E.","roleDisplay":"VerfasserIn","role":"aut","family":"Lee"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Jun","display":"Jun, Gyungah R.","given":"Gyungah R."},{"display":"Alves, Alexessander Couto","given":"Alexessander Couto","family":"Alves","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Chai","given":"Xiaoran","display":"Chai, Xiaoran"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Chan","given":"Anita S. Y.","display":"Chan, Anita S. Y."},{"role":"aut","roleDisplay":"VerfasserIn","family":"Lee","display":"Lee, Mei Chin","given":"Mei Chin"},{"display":"Fong, Allan","given":"Allan","role":"aut","roleDisplay":"VerfasserIn","family":"Fong"},{"family":"Tan","roleDisplay":"VerfasserIn","role":"aut","display":"Tan, Ava G.","given":"Ava G."},{"display":"Khor, Chiea Chuen","given":"Chiea Chuen","role":"aut","roleDisplay":"VerfasserIn","family":"Khor"},{"given":"Emily Y.","display":"Chew, Emily Y.","family":"Chew","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","role":"aut","family":"Hysi","display":"Hysi, Pirro G.","given":"Pirro G."},{"family":"Fan","roleDisplay":"VerfasserIn","role":"aut","display":"Fan, Qiao","given":"Qiao"},{"family":"Chua","roleDisplay":"VerfasserIn","role":"aut","given":"Jacqueline","display":"Chua, Jacqueline"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Chung","display":"Chung, Jaeyoon","given":"Jaeyoon"},{"family":"Liao","roleDisplay":"VerfasserIn","role":"aut","display":"Liao, Jiemin","given":"Jiemin"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Colijn","given":"Johanna M.","display":"Colijn, Johanna M."},{"display":"Burdon, Kathryn","given":"Kathryn","role":"aut","roleDisplay":"VerfasserIn","family":"Burdon"},{"given":"Lars G.","display":"Fritsche, Lars G.","family":"Fritsche","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Swift","roleDisplay":"VerfasserIn","role":"aut","display":"Swift, Maria K.","given":"Maria K."},{"given":"Maryam H.","display":"Hilmy, Maryam H.","family":"Hilmy","role":"aut","roleDisplay":"VerfasserIn"},{"display":"Chee, Miao Ling","given":"Miao Ling","role":"aut","roleDisplay":"VerfasserIn","family":"Chee"},{"family":"Tedja","role":"aut","roleDisplay":"VerfasserIn","given":"Milly","display":"Tedja, Milly"},{"roleDisplay":"VerfasserIn","role":"aut","family":"Bonnemaijer","display":"Bonnemaijer, Pieter W. M.","given":"Pieter W. M."},{"family":"Gupta","role":"aut","roleDisplay":"VerfasserIn","display":"Gupta, Preeti","given":"Preeti"},{"family":"Tan","roleDisplay":"VerfasserIn","role":"aut","display":"Tan, Queenie S.","given":"Queenie S."},{"given":"Zheng","display":"Li, Zheng","family":"Li","role":"aut","roleDisplay":"VerfasserIn"},{"family":"Vithana","roleDisplay":"VerfasserIn","role":"aut","display":"Vithana, Eranga N.","given":"Eranga N."},{"given":"Ravilla D.","display":"Ravindran, Ravilla D.","family":"Ravindran","role":"aut","roleDisplay":"VerfasserIn"},{"display":"Chee, Soon-Phaik","given":"Soon-Phaik","family":"Chee","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","role":"aut","family":"Shi","display":"Shi, Yuan","given":"Yuan"},{"display":"Liu, Wenting","given":"Wenting","roleDisplay":"VerfasserIn","role":"aut","family":"Liu"},{"family":"Su","roleDisplay":"VerfasserIn","role":"aut","given":"Xinyi","display":"Su, Xinyi"},{"family":"Sim","roleDisplay":"VerfasserIn","role":"aut","given":"Xueling","display":"Sim, Xueling"},{"family":"Shen","role":"aut","roleDisplay":"VerfasserIn","given":"Yang","display":"Shen, Yang"},{"display":"Wang, Ya Xing","given":"Ya Xing","family":"Wang","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Li","roleDisplay":"VerfasserIn","role":"aut","given":"Hengtong","display":"Li, Hengtong"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Tham","given":"Yih-Chung","display":"Tham, Yih-Chung"},{"display":"Teo, Yik Ying","given":"Yik Ying","roleDisplay":"VerfasserIn","role":"aut","family":"Teo"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Aung","given":"Tin","display":"Aung, Tin"},{"display":"Small, Kerrin S.","given":"Kerrin S.","family":"Small","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Paul","display":"Mitchell, Paul","roleDisplay":"VerfasserIn","role":"aut","family":"Mitchell"},{"display":"Jonas, Jost B.","given":"Jost B.","roleDisplay":"VerfasserIn","role":"aut","family":"Jonas"},{"roleDisplay":"VerfasserIn","role":"aut","family":"Wong","given":"Tien Yin","display":"Wong, Tien Yin"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Fletcher","display":"Fletcher, Astrid E.","given":"Astrid E."},{"given":"Caroline C. W.","display":"Klaver, Caroline C. W.","role":"aut","roleDisplay":"VerfasserIn","family":"Klaver"},{"family":"Klein","roleDisplay":"VerfasserIn","role":"aut","given":"Barbara E. K.","display":"Klein, Barbara E. K."},{"role":"aut","roleDisplay":"VerfasserIn","family":"Wang","given":"Jie Jin","display":"Wang, Jie Jin"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Iyengar","given":"Sudha K.","display":"Iyengar, Sudha K."},{"family":"Hammond","roleDisplay":"VerfasserIn","role":"aut","given":"Christopher J.","display":"Hammond, Christopher J."},{"roleDisplay":"VerfasserIn","role":"aut","family":"Cheng","given":"Ching-Yu","display":"Cheng, Ching-Yu"}],"title":[{"title":"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"}],"id":{"doi":["10.1038/s42003-020-01421-2"],"eki":["1878364928"]},"recId":"1878364928","language":["eng"],"physDesc":[{"extent":"8 S."}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"note":["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"],"relHost":[{"title":[{"title":"Communications biology","title_sort":"Communications biology"}],"disp":"Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataractCommunications biology","language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"id":{"issn":["2399-3642"],"zdb":["2919698-X"],"eki":["101369080X"]},"recId":"101369080X","part":{"extent":"8","pages":"1-8","volume":"3","year":"2020","text":"3(2020), Artikel-ID 755, Seite 1-8"},"origin":[{"publisher":"Springer Nature","publisherPlace":"London","dateIssuedDisp":"[2018]-"}],"pubHistory":["1 (2018)-"],"type":{"media":"Online-Ressource","bibl":"periodical"}}],"origin":[{"dateIssuedDisp":"11 December 2020","dateIssuedKey":"2020"}]} 
SRT |a YONOVADOINCOMMONVARI1120 

Similar Items