Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
- Yonova-Doing, Ekaterina
- Zhao, Wanting
- Igo, Robert P.
- Wang, Chaolong
- Sundaresan, Periasamy
- Lee, Kristine E.
- Jun, Gyungah R.
- Alves, Alexessander Couto
- Chai, Xiaoran
- Chan, Anita S.Y.
- Lee, Mei Chin
- Fong, Allan
- Tan, Ava G.
- Khor, Chiea Chuen
- Chew, Emily Y.
- Hysi, Pirro G.
- Fan, Qiao
- Chua, Jacqueline
- Chung, Jaeyoon
- Liao, Jiemin
- Colijn, Johanna M.
- Burdon, Kathryn P.
- Fritsche, Lars G.
- Swift, Maria K.
- Hilmy, Maryam H.
- Chee, Miao Ling
- Tedja, Milly
- Bonnemaijer, Pieter W.M.
- Gupta, Preeti
- Tan, Queenie S.
- Li, Zheng
- Vithana, Eranga N.
- Ravindran, Ravilla D.
- Chee, Soon Phaik
- Shi, Yuan
- Liu, Wenting
- Su, Xinyi
- Sim, Xueling
- Shen, Yang
- Wang, Ya Xing
- Li, Hengtong
- Tham, Yih Chung
- Teo, Yik Ying
- Aung, Tin
- Small, Kerrin S.
- Mitchell, Paul
- Jonas, Jost B.
- Wong, Tien Yin
- Fletcher, Astrid E.
- Klaver, Caroline C.W.
- Klein, Barbara E.K.
- Wang, Jie Jin
- Iyengar, Sudha K.
- Hammond, Christopher J.
- Cheng, Ching Yu
DOIAbstract
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 (rs10...
Add to ORKG