AUTHORS
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
Commun Biol. 2020 Dec 11;3(1):755. doi: 10.1038/s42003-020-01421-2.
ABSTRACT
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.
PMID:33311586 | PMC:PMC7733496 | DOI:10.1038/s42003-020-01421-2
