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Nature Research, Communications Biology, 1(3), 2020

DOI: 10.1038/s42003-020-01421-2

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

Journal article published in 2020 by Ekaterina Yonova-Doing, Wanting Zhao, Robert P. Igo ORCID, Chaolong Wang ORCID, Periasamy Sundaresan, Kristine E. Lee, Gyungah R. Jun ORCID, Alexessander Couto Alves, Xiaoran Chai, Anita S. Y. Chan ORCID, Mei Chin Lee, Allan Fong, Ava G. Tan, Chiea Chuen Khor ORCID, Emily Y. Chew ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractNuclear 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.