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


Yonova-Doing, E and Zhao, W and Igo Jr, RP and Wang, C and Sundaresan, P and Lee, KE and Jun, GR and Couto Alves, A and Chai, X and Chan, ASY and Lee, MC and Fong, A and Tan, AG and Khor, CC and Chew, EY and Hysi, PG and Fan, Q and Chua, J and Chung, J and Liao, J and Colijn, JM and Burdon, KP and Fritsche, LG and Swift, MK and Hilmy, MH and Chee, ML and Tedja, M and Bonnemaijer, PWM and Gupta, P and Tan, QS and Li, Z and Vithana, EN and Ravindran, RD and Chee, S-P and Shi, Y and Liu, W and Shi, Y and Liu, W and Su, X and Sim, X and Shen, Y and Wang, YX and Li, H and Tham, Y-C and Teo, YY and Aung, T and Small, KS and Mitchell, P and Jonas, JB and Wong, TY and Fletcher, AE and Klaver, CCW and Klein, BEK and Wang, JJ and Iyengar, SK and Hammond, CJ and Cheng, C-Y, Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract, Communications Biology, 3, (1) Article 755. ISSN 2399-3642 (2020) [Refereed Article]

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The Author(s) 2020. 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 Attribution 4.0 International (CC BY 4.0) licence, ( and indicate if changes were made

DOI: doi:10.1038/s42003-020-01421-2


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.

Item Details

Item Type:Refereed Article
Keywords:cataract, genetics
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biomedical and clinical sciences
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:144761
Year Published:2020
Web of Science® Times Cited:1
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-06-08
Last Modified:2022-12-06
Downloads:9 View Download Statistics

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