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

Eranga N. Vithana, Chiea Chuen Khor, Chunyan Qiao, Monisha E. Nongpiur, Ronnie George, Li Jia Chen, Tan Do, Khaled K 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. ChewDaniel 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, Wei-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 Shun Chiu 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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128 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1142-1146
Number of pages5
JournalNature Genetics
Volume44
Issue number10
DOIs
Publication statusPublished - Oct 2012
Externally publishedYes

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