Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from...

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Main Authors: Vithana, Eranga N. (Author) , Jonas, Jost B. (Author)
Format: Article (Journal)
Language:English
Published: 26 August 2012
In: Nature genetics
Year: 2012, Volume: 44, Issue: 10, Pages: 1142-1146
ISSN:1546-1718
DOI:10.1038/ng.2390
Online Access:Verlag, Volltext: http://dx.doi.org/10.1038/ng.2390
Verlag, Volltext: https://www.nature.com/articles/ng.2390
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Author Notes:Eranga N. Vithana, Chiea-Chuen Khor, Chunyan Qiao, Monisha E. Nongpiur, Ronnie George, Li-Jia Chen, Tan Do, Khaled Abu-Amero, Chor Kai Huang, Sancy Low, Liza-Sharmini A. Tajudin, Shamira A. Perera, Ching-Yu Cheng, Liang Xu, Hongyan Jia, Ching-Lin Ho, Kar Seng Sim, Ren-Yi Wu, Clement C.Y. Tham, Paul T.K. Chew, Daniel H. Su, Francis T. Oen, Sripriya Sarangapani, Nagaswamy Soumittra, Essam A. Osman, Hon-Tym Wong, Guangxian Tang, Sujie Fan, Hailin Meng, Dao T.L. Huong, Hua Wang, Bo Feng, Mani Baskaran, Balekudaru Shantha, Vedam L. Ramprasad, Govindasamy Kumaramanickavel, Sudha K. Iyengar, Alicia C. How, Kelvin Y. Lee, Theru A. Sivakumaran, Victor H. K. Yong, Serena M. L. Ting, Yang Li, Ya-Xing Wang, Wan-Ting Tay, Xueling Sim, Raghavan Lavanya, Belinda K. Cornes, Ying-Feng Zheng, Tina T. Wong, Seng-Chee Loon, Vernon K.Y. Yong, Naushin Waseem, Azhany Yaakub, Kee-Seng Chia, R. Rand Allingham, Michael A. Hauser, Dennis S.C. Lam, Martin L. Hibberd, Shomi S. Bhattacharya, Mingzhi Zhang, Yik Ying Teo, Donald T. Tan, Jost B. Jonas, E.-Shyong Tai, Seang-Mei Saw, Do Nhu Hon, Saleh A. Al-Obeidan, Jianjun Liu, Tran Nguyen Bich Chau, Cameron P. Simmons, Jin-Xin Bei, Yi-Xin Zeng, Paul J. Foster, Lingam Vijaya, Tien-Yin Wong, Chi-Pui Pang, Ningli Wang & Tin Aung

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520 |a Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR) = 1.22; P = 5.33 × 10−12), rs3753841 in COL11A1 (per-allele OR = 1.20; P = 9.22 × 10−10) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR = 1.50; P = 3.29 × 10−9). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG. 
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