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


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Yonova-Doing, E, Zhao, W, Igo Jr, RP, Wang, Chaolong, Sundaresan, P, Lee, KE, Jun, GR, Couto Alves, A, Chai, X, Chan, ASY, Lee, MC, Fong, A, Tan, AG, Khor, CC, Chew, EY, Hysi, PG, Fan, Q, Chua, J, Chung, J, Liao, J, Colijn, JM, Burdon, KP ORCID: 0000-0001-8217-1249, Fritsche, LG, Swift, MK, Hilmy, MH, Chee, ML, Tedja, M, Bonnemaijer, PWM, Gupta, P, Tan, QS, Li, Z, Vithana, EN, Ravindran, RD, Chee, S-P, Shi, Y, Liu, W, Shi, Y, Liu, W, Su, X, Sim, X, Shen, Y, Wang, YX, Li, H, Tham, Y-C, Teo, YY, Aung, T, Small, KS, Mitchell, P, Jonas, JB, Wong, TY, Fletcher, AE, Klaver, CCW, Klein, BEK, Wang, JJ, Iyengar, SK, Hammond, CJ and Cheng, C-Y 2020 , 'Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract' , Communications Biology, vol. 3, no. 1 , pp. 1-8 , doi: 10.1038/s42003-020-01421-2.

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Nuclear cataract is the most common type of age-related cataract and a leading cause ofblindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little isknown about specific genetic factors underlying this condition. Here we report findingsfrom 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 CataractGenetics 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 commongenetic variants in maintaining crystalline lens integrity in the aging eye.

Item Type: Article
Authors/Creators:Yonova-Doing, E and Zhao, W and Igo Jr, RP and Wang, Chaolong 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
Keywords: cataract, genetics
Journal or Publication Title: Communications Biology
Publisher: Nature Publishing Group UK
ISSN: 2399-3642
DOI / ID Number: 10.1038/s42003-020-01421-2
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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

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