University of Tasmania
Browse
144761 - common variants in SOX.pdf (1.02 MB)

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

Download (1.02 MB)
journal contribution
posted on 2023-05-20, 23:53 authored by Yonova-Doing, E, Zhao, W, Igo Jr, RP, Wang, C, 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, Kathryn BurdonKathryn Burdon, 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, 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, Cheng, C-Y
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.

History

Publication title

Communications Biology

Article number

755

Number

755

Pagination

1-8

ISSN

2399-3642

Department/School

Menzies Institute for Medical Research

Publisher

Nature Publishing Group UK

Place of publication

United Kingdom

Rights statement

© 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, (https://creativecommons.org/licenses/by/4.0/) and indicate if changes were made

Repository Status

  • Open

Socio-economic Objectives

Expanding knowledge in the biomedical and clinical sciences

Usage metrics

    University Of Tasmania

    Categories

    Keywords

    cataractgenetics

    Licence

    In Copyright

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC